An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Lack of stability of a joint or joint prosthesis. Factors involved are intra-articular disease and integrity of extra-articular structures such as joint capsule, ligaments, and muscles.
The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.
A cell line derived from cultured tumor cells.
The cell center, consisting of a pair of CENTRIOLES surrounded by a cloud of amorphous material called the pericentriolar region. During interphase, the centrosome nucleates microtubule outgrowth. The centrosome duplicates and, during mitosis, separates to form the two poles of the mitotic spindle (MITOTIC SPINDLE APPARATUS).
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.
Mapping of the KARYOTYPE of a cell.
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
Injuries to DNA that introduce deviations from its normal, intact structure and which may, if left unrepaired, result in a MUTATION or a block of DNA REPLICATION. These deviations may be caused by physical or chemical agents and occur by natural or unnatural, introduced circumstances. They include the introduction of illegitimate bases during replication or by deamination or other modification of bases; the loss of a base from the DNA backbone leaving an abasic site; single-strand breaks; double strand breaks; and intrastrand (PYRIMIDINE DIMERS) or interstrand crosslinking. Damage can often be repaired (DNA REPAIR). If the damage is extensive, it can induce APOPTOSIS.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
The orderly segregation of CHROMOSOMES during MEIOSIS or MITOSIS.
The total amount (cell number, weight, size or volume) of tumor cells or tissue in the body.
The degree of replication of the chromosome set in the karyotype.
Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
DNA present in neoplastic tissue.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
Genes that inhibit expression of the tumorigenic phenotype. They are normally involved in holding cellular growth in check. When tumor suppressor genes are inactivated or lost, a barrier to normal proliferation is removed and unregulated growth is possible.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
An aurora kinase that localizes to the CENTROSOME during MITOSIS and is involved in centrosome regulation and formation of the MITOTIC SPINDLE. Aurora A overexpression in many malignant tumor types suggests that it may be directly involved in NEOPLASTIC CELL TRANSFORMATION.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.
In a prokaryotic cell or in the nucleus of a eukaryotic cell, a structure consisting of or containing DNA which carries the genetic information essential to the cell. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
Very long DNA molecules and associated proteins, HISTONES, and non-histone chromosomal proteins (CHROMOSOMAL PROTEINS, NON-HISTONE). Normally 46 chromosomes, including two sex chromosomes are found in the nucleus of human cells. They carry the hereditary information of the individual.
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (STROMAL CELLS), and epithelial (EPITHELIAL CELLS) elements. However, not all three are present in every case. Several genes or chromosomal areas have been associated with Wilms tumor which is usually found in childhood as a firm lump in a child's side or ABDOMEN.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes.
A family of highly conserved serine-threonine kinases that are involved in the regulation of MITOSIS. They are involved in many aspects of cell division, including centrosome duplication, SPINDLE APPARATUS formation, chromosome alignment, attachment to the spindle, checkpoint activation, and CYTOKINESIS.
An exchange of segments between the sister chromatids of a chromosome, either between the sister chromatids of a meiotic tetrad or between the sister chromatids of a duplicated somatic chromosome. Its frequency is increased by ultraviolet and ionizing radiation and other mutagenic agents and is particularly high in BLOOM SYNDROME.
Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms.
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.
Established cell cultures that have the potential to propagate indefinitely.
A malignant epithelial tumor with a glandular organization.
Specific loci that show up during KARYOTYPING as a gap (an uncondensed stretch in closer views) on a CHROMATID arm after culturing cells under specific conditions. These sites are associated with an increase in CHROMOSOME FRAGILITY. They are classified as common or rare, and by the specific culture conditions under which they develop. Fragile site loci are named by the letters "FRA" followed by a designation for the specific chromosome, and a letter which refers to which fragile site of that chromosome (e.g. FRAXA refers to fragile site A on the X chromosome. It is a rare, folic acid-sensitive fragile site associated with FRAGILE X SYNDROME.)
Tumors or cancer of the COLON.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Mad2 is a component of the spindle-assembly checkpoint apparatus. It binds to and inhibits the Cdc20 activator subunit of the anaphase-promoting complex, preventing the onset of anaphase until all chromosomes are properly aligned at the metaphase plate. Mad2 is required for proper microtubule capture at KINETOCHORES.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A microtubule structure that forms during CELL DIVISION. It consists of two SPINDLE POLES, and sets of MICROTUBULES that may include the astral microtubules, the polar microtubules, and the kinetochore microtubules.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
All of the processes involved in increasing CELL NUMBER including CELL DIVISION.
Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.
The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
The complex series of phenomena, occurring between the end of one CELL DIVISION and the end of the next, by which cellular material is duplicated and then divided between two daughter cells. The cell cycle includes INTERPHASE, which includes G0 PHASE; G1 PHASE; S PHASE; and G2 PHASE, and CELL DIVISION PHASE.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
A Fanconi anemia complementation group protein that undergoes PHOSPHORYLATION by CDC2 PROTEIN KINASE during MITOSIS. It forms a complex with other FANCONI ANEMIA PROTEINS and helps protect CELLS from DNA DAMAGE by genotoxic agents.
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
The loss of some TELOMERE sequence during DNA REPLICATION of the first several base pairs of a linear DNA molecule; or from DNA DAMAGE. Cells have various mechanisms to restore length (TELOMERE HOMEOSTASIS.) Telomere shortening is involved in the progression of CELL AGING.
Tumors whose cells possess secretory granules and originate from the neuroectoderm, i.e., the cells of the ectoblast or epiblast that program the neuroendocrine system. Common properties across most neuroendocrine tumors include ectopic hormone production (often via APUD CELLS), the presence of tumor-associated antigens, and isozyme composition.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain.
ELECTROMAGNETIC RADIATION or particle radiation (high energy ELEMENTARY PARTICLES) capable of directly or indirectly producing IONS in its passage through matter. The wavelengths of ionizing electromagnetic radiation are equal to or smaller than those of short (far) ultraviolet radiation and include gamma and X-rays.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
The clear constricted portion of the chromosome at which the chromatids are joined and by which the chromosome is attached to the spindle during cell division.
The milieu surrounding neoplasms consisting of cells, vessels, soluble factors, and molecules, that can influence and be influenced by, the neoplasm's growth.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Elements of limited time intervals, contributing to particular results or situations.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Tumors or cancer of the human BREAST.
Induction and quantitative measurement of chromosomal damage leading to the formation of micronuclei (MICRONUCLEI, CHROMOSOME-DEFECTIVE) in cells which have been exposed to genotoxic agents or IONIZING RADIATION.
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A selective increase in the number of copies of a gene coding for a specific protein without a proportional increase in other genes. It occurs naturally via the excision of a copy of the repeating sequence from the chromosome and its extrachromosomal replication in a plasmid, or via the production of an RNA transcript of the entire repeating sequence of ribosomal RNA followed by the reverse transcription of the molecule to produce an additional copy of the original DNA sequence. Laboratory techniques have been introduced for inducing disproportional replication by unequal crossing over, uptake of DNA from lysed cells, or generation of extrachromosomal sequences from rolling circle replication.
Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS.
Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.
The phase of cell nucleus division following PROMETAPHASE, in which the CHROMOSOMES line up across the equatorial plane of the SPINDLE APPARATUS prior to separation.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
The span of viability of a cell characterized by the capacity to perform certain functions such as metabolism, growth, reproduction, some form of responsiveness, and adaptability.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)
A method for comparing two sets of chromosomal DNA by analyzing differences in the copy number and location of specific sequences. It is used to look for large sequence changes such as deletions, duplications, amplifications, or translocations.
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
A benign epithelial tumor with a glandular organization.
An antineoplastic antibiotic produced by Streptomyces caespitosus. It is one of the bi- or tri-functional ALKYLATING AGENTS causing cross-linking of DNA and inhibition of DNA synthesis.
Tumors or cancer of the LIVER.
A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions.
The ability of some cells or tissues to survive lethal doses of IONIZING RADIATION. Tolerance depends on the species, cell type, and physical and chemical variables, including RADIATION-PROTECTIVE AGENTS and RADIATION-SENSITIZING AGENTS.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)
The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.
Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
The cellular signaling system that halts the progression of cells through MITOSIS or MEIOSIS if a defect that will affect CHROMOSOME SEGREGATION is detected.
Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake.
A relatively common neoplasm of the CENTRAL NERVOUS SYSTEM that arises from arachnoidal cells. The majority are well differentiated vascular tumors which grow slowly and have a low potential to be invasive, although malignant subtypes occur. Meningiomas have a predilection to arise from the parasagittal region, cerebral convexity, sphenoidal ridge, olfactory groove, and SPINAL CANAL. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2056-7)
Penetrating electromagnetic radiation emitted when the inner orbital electrons of an atom are excited and release radiant energy. X-ray wavelengths range from 1 pm to 10 nm. Hard X-rays are the higher energy, shorter wavelength X-rays. Soft x-rays or Grenz rays are less energetic and longer in wavelength. The short wavelength end of the X-ray spectrum overlaps the GAMMA RAYS wavelength range. The distinction between gamma rays and X-rays is based on their radiation source.
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A general term for various neoplastic diseases of the lymphoid tissue.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
The phase of cell nucleus division following METAPHASE, in which the CHROMATIDS separate and migrate to opposite poles of the spindle.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
The process by which a DNA molecule is duplicated.
Transplantation between animals of different species.
A Fanconi anemia complementation group protein that regulates the activities of CYTOCHROME P450 REDUCTASE and GLUTATHIONE S-TRANSFERASE. It is found predominately in the CYTOPLASM, but moves to the CELL NUCLEUS in response to FANCE PROTEIN.
Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.
White blood cells formed in the body's lymphoid tissue. The nucleus is round or ovoid with coarse, irregularly clumped chromatin while the cytoplasm is typically pale blue with azurophilic (if any) granules. Most lymphocytes can be classified as either T or B (with subpopulations of each), or NATURAL KILLER CELLS.
A Fanconi anemia complementation group protein that is the most commonly mutated protein in FANCONI ANEMIA. It undergoes PHOSPHORYLATION by PROTEIN KINASE B and forms a complex with FANCC PROTEIN in the CELL NUCLEUS.
A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The process by which the CYTOPLASM of a cell is divided.
Small double-stranded, non-protein coding RNAs (21-31 nucleotides) involved in GENE SILENCING functions, especially RNA INTERFERENCE (RNAi). Endogenously, siRNAs are generated from dsRNAs (RNA, DOUBLE-STRANDED) by the same ribonuclease, Dicer, that generates miRNAs (MICRORNAS). The perfect match of the siRNAs' antisense strand to their target RNAs mediates RNAi by siRNA-guided RNA cleavage. siRNAs fall into different classes including trans-acting siRNA (tasiRNA), repeat-associated RNA (rasiRNA), small-scan RNA (scnRNA), and Piwi protein-interacting RNA (piRNA) and have different specific gene silencing functions.
Slender, cylindrical filaments found in the cytoskeleton of plant and animal cells. They are composed of the protein TUBULIN and are influenced by TUBULIN MODULATORS.
All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA).
A family of proteins that share the F-BOX MOTIF and are involved in protein-protein interactions. They play an important role in process of protein ubiquition by associating with a variety of substrates and then associating into SCF UBIQUITIN LIGASE complexes. They are held in the ubiquitin-ligase complex via binding to SKP DOMAIN PROTEINS.
Actual loss of portion of a chromosome.
Biochemical identification of mutational changes in a nucleotide sequence.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Eukaryotic cell line obtained in a quiescent or stationary phase which undergoes conversion to a state of unregulated growth in culture, resembling an in vitro tumor. It occurs spontaneously or through interaction with viruses, oncogenes, radiation, or drugs/chemicals.
An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or 6-mercaptopurine to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8.
Inbred BALB/c mice are a strain of laboratory mice that have been selectively bred to be genetically identical to each other, making them useful for scientific research and experiments due to their consistent genetic background and predictable responses to various stimuli or treatments.
Areas of increased density of the dinucleotide sequence cytosine--phosphate diester--guanine. They form stretches of DNA several hundred to several thousand base pairs long. In humans there are about 45,000 CpG islands, mostly found at the 5' ends of genes. They are unmethylated except for those on the inactive X chromosome and some associated with imprinted genes.
Mutant mice homozygous for the recessive gene "nude" which fail to develop a thymus. They are useful in tumor studies and studies on immune responses.
In vivo methods of screening investigative anticancer drugs, biologic response modifiers or radiotherapies. Human tumor tissue or cells are transplanted into mice or rats followed by tumor treatment regimens. A variety of outcomes are monitored to assess antitumor effectiveness.
The decrease in the cell's ability to proliferate with the passing of time. Each cell is programmed for a certain number of cell divisions and at the end of that time proliferation halts. The cell enters a quiescent state after which it experiences CELL DEATH via the process of APOPTOSIS.
A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
An expression of the number of mitoses found in a stated number of cells.
A Fanconi anemia complementation group protein. It is an essential component of a nuclear core complex that protects the GENOME against CHROMOSOMAL INSTABILITY. It interacts directly with FANCG PROTEIN and helps stabilize a complex with FANCA PROTEIN and FANCC PROTEIN.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
Penetrating, high-energy electromagnetic radiation emitted from atomic nuclei during NUCLEAR DECAY. The range of wavelengths of emitted radiation is between 0.1 - 100 pm which overlaps the shorter, more energetic hard X-RAYS wavelengths. The distinction between gamma rays and X-rays is based on their radiation source.
Proteins, glycoprotein, or lipoprotein moieties on surfaces of tumor cells that are usually identified by monoclonal antibodies. Many of these are of either embryonic or viral origin.
Substances that increase the risk of NEOPLASMS in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included.
Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.
Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS.
Processes required for CELL ENLARGEMENT and CELL PROLIFERATION.
Nocodazole is an antineoplastic agent which exerts its effect by depolymerizing microtubules.
The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES.
Pathological processes of the OVARIES or the TESTES.
Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
A primary malignant neoplasm of epithelial liver cells. It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. The cells may be uniform or markedly pleomorphic, or form GIANT CELLS. Several classification schemes have been suggested.
Interruption or suppression of the expression of a gene at transcriptional or translational levels.
A sarcoma derived from deep fibrous tissue, characterized by bundles of immature proliferating fibroblasts with variable collagen formation, which tends to invade locally and metastasize by the bloodstream. (Stedman, 25th ed)
Immunologically detectable substances found in the CELL NUCLEUS.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
The result of a positive or negative response (to drugs, for example) in one cell being passed onto other cells via the GAP JUNCTIONS or the intracellular milieu.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
Tumors or cancer of the SKIN.
The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration.
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
Tumors or cancers of the KIDNEY.
A negative regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.
Genes whose abnormal expression, or MUTATION are associated with the development, growth, or progression of NEOPLASMS.
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.
Genes whose gain-of-function alterations lead to NEOPLASTIC CELL TRANSFORMATION. They include, for example, genes for activators or stimulators of CELL PROLIFERATION such as growth factors, growth factor receptors, protein kinases, signal transducers, nuclear phosphoproteins, and transcription factors. A prefix of "v-" before oncogene symbols indicates oncogenes captured and transmitted by RETROVIRUSES; the prefix "c-" before the gene symbol of an oncogene indicates it is the cellular homolog (PROTO-ONCOGENES) of a v-oncogene.
Human COLORECTAL CARCINOMA cell line.
A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms.
A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
Benign and malignant central nervous system neoplasms derived from glial cells (i.e., astrocytes, oligodendrocytes, and ependymocytes). Astrocytes may give rise to astrocytomas (ASTROCYTOMA) or glioblastoma multiforme (see GLIOBLASTOMA). Oligodendrocytes give rise to oligodendrogliomas (OLIGODENDROGLIOMA) and ependymocytes may undergo transformation to become EPENDYMOMA; CHOROID PLEXUS NEOPLASMS; or colloid cysts of the third ventricle. (From Escourolle et al., Manual of Basic Neuropathology, 2nd ed, p21)
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
A characteristic symptom complex.

Chromosomal instability is a term used in genetics to describe a type of genetic alteration where there are abnormalities in the number or structure of chromosomes within cells. Chromosomes are thread-like structures that contain our genetic material, and they usually exist in pairs in the nucleus of a cell.

Chromosomal instability can arise due to various factors, including errors in DNA replication or repair, problems during cell division, or exposure to environmental mutagens. This instability can lead to an increased frequency of chromosomal abnormalities, such as deletions, duplications, translocations, or changes in the number of chromosomes.

Chromosomal instability is associated with several human diseases, including cancer. In cancer cells, chromosomal instability can contribute to tumor heterogeneity, drug resistance, and disease progression. It is also observed in certain genetic disorders, such as Down syndrome, where an extra copy of chromosome 21 is present, and in some rare inherited syndromes, such as Bloom syndrome and Fanconi anemia, which are characterized by a high risk of cancer and other health problems.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

Aneuploidy is a medical term that refers to an abnormal number of chromosomes in a cell. Chromosomes are thread-like structures located inside the nucleus of cells that contain genetic information in the form of genes.

In humans, the normal number of chromosomes in a cell is 46, arranged in 23 pairs. Aneuploidy occurs when there is an extra or missing chromosome in one or more of these pairs. For example, Down syndrome is a condition that results from an extra copy of chromosome 21, also known as trisomy 21.

Aneuploidy can arise during the formation of gametes (sperm or egg cells) due to errors in the process of cell division called meiosis. These errors can result in eggs or sperm with an abnormal number of chromosomes, which can then lead to aneuploidy in the resulting embryo.

Aneuploidy is a significant cause of birth defects and miscarriages. The severity of the condition depends on which chromosomes are affected and the extent of the abnormality. In some cases, aneuploidy may have no noticeable effects, while in others it can lead to serious health problems or developmental delays.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Joint instability is a condition characterized by the loss of normal joint function and increased risk of joint injury due to impaired integrity of the supporting structures, such as ligaments, muscles, or cartilage. This can result in excessive movement or laxity within the joint, leading to decreased stability and increased susceptibility to dislocations or subluxations. Joint instability may cause pain, swelling, and limited range of motion, and it can significantly impact a person's mobility and quality of life. It is often caused by trauma, degenerative conditions, or congenital abnormalities and may require medical intervention, such as physical therapy, bracing, or surgery, to restore joint stability.

Microsatellite instability (MSI) is a genetic phenomenon characterized by alterations in the number of repeat units in microsatellites, which are short repetitive DNA sequences distributed throughout the genome. MSI arises due to defects in the DNA mismatch repair system, leading to accumulation of errors during DNA replication and cell division.

This condition is often associated with certain types of cancer, such as colorectal, endometrial, and gastric cancers. The presence of MSI in tumors may indicate a better prognosis and potential response to immunotherapy, particularly those targeting PD-1 or PD-L1 pathways.

MSI is typically determined through molecular testing, which compares the length of microsatellites in normal and tumor DNA samples. A high level of instability, known as MSI-High (MSI-H), is indicative of a dysfunctional mismatch repair system and increased likelihood of cancer development.

In situ hybridization, fluorescence (FISH) is a type of molecular cytogenetic technique used to detect and localize the presence or absence of specific DNA sequences on chromosomes through the use of fluorescent probes. This technique allows for the direct visualization of genetic material at a cellular level, making it possible to identify chromosomal abnormalities such as deletions, duplications, translocations, and other rearrangements.

The process involves denaturing the DNA in the sample to separate the double-stranded molecules into single strands, then adding fluorescently labeled probes that are complementary to the target DNA sequence. The probe hybridizes to the complementary sequence in the sample, and the location of the probe is detected by fluorescence microscopy.

FISH has a wide range of applications in both clinical and research settings, including prenatal diagnosis, cancer diagnosis and monitoring, and the study of gene expression and regulation. It is a powerful tool for identifying genetic abnormalities and understanding their role in human disease.

A cell line that is derived from tumor cells and has been adapted to grow in culture. These cell lines are often used in research to study the characteristics of cancer cells, including their growth patterns, genetic changes, and responses to various treatments. They can be established from many different types of tumors, such as carcinomas, sarcomas, and leukemias. Once established, these cell lines can be grown and maintained indefinitely in the laboratory, allowing researchers to conduct experiments and studies that would not be feasible using primary tumor cells. It is important to note that tumor cell lines may not always accurately represent the behavior of the original tumor, as they can undergo genetic changes during their time in culture.

A centrosome is a microtubule-organizing center found in animal cells. It consists of two barrel-shaped structures called centrioles, which are surrounded by a protein matrix called the pericentriolar material. The centrosome plays a crucial role in organizing the microtubules that form the cell's cytoskeleton and help to shape the cell, as well as in separating the chromosomes during cell division.

During mitosis, the two centrioles of the centrosome separate and move to opposite poles of the cell, where they nucleate the formation of the spindle fibers that pull the chromosomes apart. The centrosome also helps to ensure that the genetic material is equally distributed between the two resulting daughter cells.

It's worth noting that while centrioles are present in many animal cells, they are not always present in all types of cells. For example, plant cells do not have centrioles or centrosomes, and instead rely on other mechanisms to organize their microtubules.

Tumor suppressor protein p53, also known as p53 or tumor protein p53, is a nuclear phosphoprotein that plays a crucial role in preventing cancer development and maintaining genomic stability. It does so by regulating the cell cycle and acting as a transcription factor for various genes involved in apoptosis (programmed cell death), DNA repair, and cell senescence (permanent cell growth arrest).

In response to cellular stress, such as DNA damage or oncogene activation, p53 becomes activated and accumulates in the nucleus. Activated p53 can then bind to specific DNA sequences and promote the transcription of target genes that help prevent the proliferation of potentially cancerous cells. These targets include genes involved in cell cycle arrest (e.g., CDKN1A/p21), apoptosis (e.g., BAX, PUMA), and DNA repair (e.g., GADD45).

Mutations in the TP53 gene, which encodes p53, are among the most common genetic alterations found in human cancers. These mutations often lead to a loss or reduction of p53's tumor suppressive functions, allowing cancer cells to proliferate uncontrollably and evade apoptosis. As a result, p53 has been referred to as "the guardian of the genome" due to its essential role in preventing tumorigenesis.

Tumor markers are substances that can be found in the body and their presence can indicate the presence of certain types of cancer or other conditions. Biological tumor markers refer to those substances that are produced by cancer cells or by other cells in response to cancer or certain benign (non-cancerous) conditions. These markers can be found in various bodily fluids such as blood, urine, or tissue samples.

Examples of biological tumor markers include:

1. Proteins: Some tumor markers are proteins that are produced by cancer cells or by other cells in response to the presence of cancer. For example, prostate-specific antigen (PSA) is a protein produced by normal prostate cells and in higher amounts by prostate cancer cells.
2. Genetic material: Tumor markers can also include genetic material such as DNA, RNA, or microRNA that are shed by cancer cells into bodily fluids. For example, circulating tumor DNA (ctDNA) is genetic material from cancer cells that can be found in the bloodstream.
3. Metabolites: Tumor markers can also include metabolic products produced by cancer cells or by other cells in response to cancer. For example, lactate dehydrogenase (LDH) is an enzyme that is released into the bloodstream when cancer cells break down glucose for energy.

It's important to note that tumor markers are not specific to cancer and can be elevated in non-cancerous conditions as well. Therefore, they should not be used alone to diagnose cancer but rather as a tool in conjunction with other diagnostic tests and clinical evaluations.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Chromosome fragility refers to the susceptibility of specific regions on chromosomes to break or become unstable during cell division. These fragile sites are prone to forming gaps or breaks in the chromosome structure, which can lead to genetic rearrangements, including deletions, duplications, or translocations.

Chromosome fragility is often associated with certain genetic disorders and syndromes. For example, the most common fragile site in human chromosomes is FRAXA, located on the X chromosome, which is linked to Fragile X Syndrome, a leading cause of inherited intellectual disability and autism.

Environmental factors such as exposure to chemicals or radiation can also increase chromosome fragility, leading to an increased risk of genetic mutations and diseases.

Mitosis is a type of cell division in which the genetic material of a single cell, called the mother cell, is equally distributed into two identical daughter cells. It's a fundamental process that occurs in multicellular organisms for growth, maintenance, and repair, as well as in unicellular organisms for reproduction.

The process of mitosis can be broken down into several stages: prophase, prometaphase, metaphase, anaphase, and telophase. During prophase, the chromosomes condense and become visible, and the nuclear envelope breaks down. In prometaphase, the nuclear membrane is completely disassembled, and the mitotic spindle fibers attach to the chromosomes at their centromeres.

During metaphase, the chromosomes align at the metaphase plate, an imaginary line equidistant from the two spindle poles. In anaphase, sister chromatids are pulled apart by the spindle fibers and move toward opposite poles of the cell. Finally, in telophase, new nuclear envelopes form around each set of chromosomes, and the chromosomes decondense and become less visible.

Mitosis is followed by cytokinesis, a process that divides the cytoplasm of the mother cell into two separate daughter cells. The result of mitosis and cytokinesis is two genetically identical cells, each with the same number and kind of chromosomes as the original parent cell.

A telomere is a region of repetitive DNA sequences found at the end of chromosomes, which protects the genetic data from damage and degradation during cell division. Telomeres naturally shorten as cells divide, and when they become too short, the cell can no longer divide and becomes senescent or dies. This natural process is associated with aging and various age-related diseases. The length of telomeres can also be influenced by various genetic and environmental factors, including stress, diet, and lifestyle.

Neoplastic cell transformation is a process in which a normal cell undergoes genetic alterations that cause it to become cancerous or malignant. This process involves changes in the cell's DNA that result in uncontrolled cell growth and division, loss of contact inhibition, and the ability to invade surrounding tissues and metastasize (spread) to other parts of the body.

Neoplastic transformation can occur as a result of various factors, including genetic mutations, exposure to carcinogens, viral infections, chronic inflammation, and aging. These changes can lead to the activation of oncogenes or the inactivation of tumor suppressor genes, which regulate cell growth and division.

The transformation of normal cells into cancerous cells is a complex and multi-step process that involves multiple genetic and epigenetic alterations. It is characterized by several hallmarks, including sustained proliferative signaling, evasion of growth suppressors, resistance to cell death, enabling replicative immortality, induction of angiogenesis, activation of invasion and metastasis, reprogramming of energy metabolism, and evading immune destruction.

Neoplastic cell transformation is a fundamental concept in cancer biology and is critical for understanding the molecular mechanisms underlying cancer development and progression. It also has important implications for cancer diagnosis, prognosis, and treatment, as identifying the specific genetic alterations that underlie neoplastic transformation can help guide targeted therapies and personalized medicine approaches.

Chromosome breakage is a medical term that refers to the breaking or fragmentation of chromosomes, which are thread-like structures located in the nucleus of cells that carry genetic information. Normally, chromosomes are tightly coiled and consist of two strands called chromatids, joined together at a central point called the centromere.

Chromosome breakage can occur spontaneously or be caused by environmental factors such as radiation or chemicals, or inherited genetic disorders. When a chromosome breaks, it can result in various genetic abnormalities, depending on the location and severity of the break.

For instance, if the break occurs in a region containing important genes, it can lead to the loss or alteration of those genes, causing genetic diseases or birth defects. In some cases, the broken ends of the chromosome may rejoin incorrectly, leading to chromosomal rearrangements such as translocations, deletions, or inversions. These rearrangements can also result in genetic disorders or cancer.

Chromosome breakage is commonly observed in individuals with certain inherited genetic conditions, such as Bloom syndrome, Fanconi anemia, and ataxia-telangiectasia, which are characterized by an increased susceptibility to chromosome breakage due to defects in DNA repair mechanisms.

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Loss of Heterozygosity (LOH) is a term used in genetics to describe the loss of one copy of a gene or a segment of a chromosome, where there was previously a pair of different genes or chromosomal segments (heterozygous). This can occur due to various genetic events such as mutation, deletion, or mitotic recombination.

LOH is often associated with the development of cancer, as it can lead to the loss of tumor suppressor genes, which normally help to regulate cell growth and division. When both copies of a tumor suppressor gene are lost or inactivated, it can result in uncontrolled cell growth and the formation of a tumor.

In medical terms, LOH is used as a biomarker for cancer susceptibility, progression, and prognosis. It can also be used to identify individuals who may be at increased risk for certain types of cancer, or to monitor patients for signs of cancer recurrence.

Chromosome segregation is the process that occurs during cell division (mitosis or meiosis) where replicated chromosomes are separated and distributed equally into two daughter cells. Each chromosome consists of two sister chromatids, which are identical copies of genetic material. During chromosome segregation, these sister chromatids are pulled apart by a structure called the mitotic spindle and moved to opposite poles of the cell. This ensures that each new cell receives one copy of each chromosome, preserving the correct number and composition of chromosomes in the organism.

Tumor burden is a term used to describe the total amount of cancer in the body. It can refer to the number of tumors, the size of the tumors, or the amount of cancer cells in the body. In research and clinical trials, tumor burden is often measured to assess the effectiveness of treatments or to monitor disease progression. High tumor burden can cause various symptoms and complications, depending on the type and location of the cancer. It can also affect a person's prognosis and treatment options.

Ploidy is a term used in genetics to describe the number of sets of chromosomes in a cell or an organism. The ploidy level can have important implications for genetic inheritance and expression, as well as for evolutionary processes such as speciation and hybridization.

In most animals, including humans, the normal ploidy level is diploid, meaning that each cell contains two sets of chromosomes - one set inherited from each parent. However, there are also many examples of polyploidy, in which an organism has more than two sets of chromosomes.

Polyploidy can arise through various mechanisms, such as genome duplication or hybridization between different species. In some cases, polyploidy may confer evolutionary advantages, such as increased genetic diversity and adaptability to new environments. However, it can also lead to reproductive isolation and the formation of new species.

In plants, polyploidy is relatively common and has played a significant role in their evolution and diversification. Many crop plants are polyploids, including wheat, cotton, and tobacco. In some cases, artificial induction of polyploidy has been used to create new varieties with desirable traits for agriculture and horticulture.

Overall, ploidy is an important concept in genetics and evolution, with implications for a wide range of biological processes and phenomena.

Tumor Necrosis Factor-alpha (TNF-α) is a cytokine, a type of small signaling protein involved in immune response and inflammation. It is primarily produced by activated macrophages, although other cell types such as T-cells, natural killer cells, and mast cells can also produce it.

TNF-α plays a crucial role in the body's defense against infection and tissue injury by mediating inflammatory responses, activating immune cells, and inducing apoptosis (programmed cell death) in certain types of cells. It does this by binding to its receptors, TNFR1 and TNFR2, which are found on the surface of many cell types.

In addition to its role in the immune response, TNF-α has been implicated in the pathogenesis of several diseases, including autoimmune disorders such as rheumatoid arthritis, inflammatory bowel disease, and psoriasis, as well as cancer, where it can promote tumor growth and metastasis.

Therapeutic agents that target TNF-α, such as infliximab, adalimumab, and etanercept, have been developed to treat these conditions. However, these drugs can also increase the risk of infections and other side effects, so their use must be carefully monitored.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.

The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.

Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.

Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.

Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.

The term "DNA, neoplasm" is not a standard medical term or concept. DNA refers to deoxyribonucleic acid, which is the genetic material present in the cells of living organisms. A neoplasm, on the other hand, is a tumor or growth of abnormal tissue that can be benign (non-cancerous) or malignant (cancerous).

In some contexts, "DNA, neoplasm" may refer to genetic alterations found in cancer cells. These genetic changes can include mutations, amplifications, deletions, or rearrangements of DNA sequences that contribute to the development and progression of cancer. Identifying these genetic abnormalities can help doctors diagnose and treat certain types of cancer more effectively.

However, it's important to note that "DNA, neoplasm" is not a term that would typically be used in medical reports or research papers without further clarification. If you have any specific questions about DNA changes in cancer cells or neoplasms, I would recommend consulting with a healthcare professional or conducting further research on the topic.

Neoplasms are abnormal growths of cells or tissues in the body that serve no physiological function. They can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are typically slow growing and do not spread to other parts of the body, while malignant neoplasms are aggressive, invasive, and can metastasize to distant sites.

Neoplasms occur when there is a dysregulation in the normal process of cell division and differentiation, leading to uncontrolled growth and accumulation of cells. This can result from genetic mutations or other factors such as viral infections, environmental exposures, or hormonal imbalances.

Neoplasms can develop in any organ or tissue of the body and can cause various symptoms depending on their size, location, and type. Treatment options for neoplasms include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy, among others.

Cell cycle proteins are a group of regulatory proteins that control the progression of the cell cycle, which is the series of events that take place in a eukaryotic cell leading to its division and duplication. These proteins can be classified into several categories based on their functions during different stages of the cell cycle.

The major groups of cell cycle proteins include:

1. Cyclin-dependent kinases (CDKs): CDKs are serine/threonine protein kinases that regulate key transitions in the cell cycle. They require binding to a regulatory subunit called cyclin to become active. Different CDK-cyclin complexes are activated at different stages of the cell cycle.
2. Cyclins: Cyclins are a family of regulatory proteins that bind and activate CDKs. Their levels fluctuate throughout the cell cycle, with specific cyclins expressed during particular phases. For example, cyclin D is important for the G1 to S phase transition, while cyclin B is required for the G2 to M phase transition.
3. CDK inhibitors (CKIs): CKIs are regulatory proteins that bind to and inhibit CDKs, thereby preventing their activation. CKIs can be divided into two main families: the INK4 family and the Cip/Kip family. INK4 family members specifically inhibit CDK4 and CDK6, while Cip/Kip family members inhibit a broader range of CDKs.
4. Anaphase-promoting complex/cyclosome (APC/C): APC/C is an E3 ubiquitin ligase that targets specific proteins for degradation by the 26S proteasome. During the cell cycle, APC/C regulates the metaphase to anaphase transition and the exit from mitosis by targeting securin and cyclin B for degradation.
5. Other regulatory proteins: Several other proteins play crucial roles in regulating the cell cycle, such as p53, a transcription factor that responds to DNA damage and arrests the cell cycle, and the polo-like kinases (PLKs), which are involved in various aspects of mitosis.

Overall, cell cycle proteins work together to ensure the proper progression of the cell cycle, maintain genomic stability, and prevent uncontrolled cell growth, which can lead to cancer.

Polyploidy is a condition in which a cell or an organism has more than two sets of chromosomes, unlike the typical diploid state where there are only two sets (one from each parent). Polyploidy can occur through various mechanisms such as errors during cell division, fusion of egg and sperm cells that have an abnormal number of chromosomes, or through the reproduction process in plants.

Polyploidy is common in the plant kingdom, where it often leads to larger size, increased biomass, and sometimes hybrid vigor. However, in animals, polyploidy is less common and usually occurs in only certain types of cells or tissues, as most animals require a specific number of chromosomes for normal development and reproduction. In humans, polyploidy is typically not compatible with life and can lead to developmental abnormalities and miscarriage.

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder characterized by extreme sensitivity to ionizing radiation, progressive microcephaly, short stature, immunodeficiency, and an increased risk of developing malignancies, particularly lymphoid tumors. The syndrome is caused by mutations in the NBN gene, which encodes a protein called nibrin that plays a critical role in DNA repair and maintenance of genomic stability.

Individuals with NBS typically have microcephaly at birth or develop it in early childhood, accompanied by developmental delay, intellectual disability, and characteristic facial features such as a prominent forehead, recessed jaw, and widely spaced eyes. They may also have skin abnormalities, skeletal anomalies, and hearing loss.

Immunodeficiency is a common feature of NBS, with patients often experiencing recurrent infections due to impaired immune function. They may have low levels of immunoglobulins and T-cell lymphopenia, which can increase their susceptibility to infections.

NBS is associated with an increased risk of malignancies, particularly lymphoid tumors such as B-cell non-Hodgkin lymphoma and leukemia. The risk of cancer increases with age, and most patients develop a malignancy by their mid-20s.

The diagnosis of NBS is typically made based on clinical features, genetic testing, and confirmation of biallelic mutations in the NBN gene. Treatment may involve management of infections, immunoglobulin replacement therapy, and chemotherapy or radiation therapy for malignancies. However, these treatments can be challenging due to the increased sensitivity to ionizing radiation and potential toxicity of chemotherapeutic agents.

Overall, NBS is a rare but serious disorder that requires multidisciplinary care from specialists in genetics, immunology, oncology, and other fields.

Tumor suppressor genes are a type of gene that helps to regulate and prevent cells from growing and dividing too rapidly or in an uncontrolled manner. They play a critical role in preventing the formation of tumors and cancer. When functioning properly, tumor suppressor genes help to repair damaged DNA, control the cell cycle, and trigger programmed cell death (apoptosis) when necessary. However, when these genes are mutated or altered, they can lose their ability to function correctly, leading to uncontrolled cell growth and the development of tumors. Examples of tumor suppressor genes include TP53, BRCA1, and BRCA2.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Aurora Kinase A is a type of serine/threonine kinase that plays a crucial role in the regulation of cell division and mitosis. It is encoded by the AURKA gene in humans. This enzyme is responsible for proper chromosome alignment and segregation during mitosis, and its dysregulation has been implicated in various types of cancer. Aurora Kinase A is often overexpressed in cancer cells, leading to chromosomal instability and aneuploidy, which contribute to tumor growth and progression. Inhibitors of Aurora Kinase A are being investigated as potential cancer therapeutics.

Protein-Serine-Threonine Kinases (PSTKs) are a type of protein kinase that catalyzes the transfer of a phosphate group from ATP to the hydroxyl side chains of serine or threonine residues on target proteins. This phosphorylation process plays a crucial role in various cellular signaling pathways, including regulation of metabolism, gene expression, cell cycle progression, and apoptosis. PSTKs are involved in many physiological and pathological processes, and their dysregulation has been implicated in several diseases, such as cancer, diabetes, and neurodegenerative disorders.

Chromosomes are thread-like structures that exist in the nucleus of cells, carrying genetic information in the form of genes. They are composed of DNA and proteins, and are typically present in pairs in the nucleus, with one set inherited from each parent. In humans, there are 23 pairs of chromosomes for a total of 46 chromosomes. Chromosomes come in different shapes and forms, including sex chromosomes (X and Y) that determine the biological sex of an individual. Changes or abnormalities in the number or structure of chromosomes can lead to genetic disorders and diseases.

Colorectal neoplasms refer to abnormal growths in the colon or rectum, which can be benign or malignant. These growths can arise from the inner lining (mucosa) of the colon or rectum and can take various forms such as polyps, adenomas, or carcinomas.

Benign neoplasms, such as hyperplastic polyps and inflammatory polyps, are not cancerous but may need to be removed to prevent the development of malignant tumors. Adenomas, on the other hand, are precancerous lesions that can develop into colorectal cancer if left untreated.

Colorectal cancer is a malignant neoplasm that arises from the uncontrolled growth and division of cells in the colon or rectum. It is one of the most common types of cancer worldwide and can spread to other parts of the body through the bloodstream or lymphatic system.

Regular screening for colorectal neoplasms is recommended for individuals over the age of 50, as early detection and removal of precancerous lesions can significantly reduce the risk of developing colorectal cancer.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Chromosomes are thread-like structures that contain genetic material, i.e., DNA and proteins, present in the nucleus of human cells. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes, in each diploid cell. Twenty-two of these pairs are called autosomal chromosomes, which come in identical pairs and contain genes that determine various traits unrelated to sex.

The last pair is referred to as the sex chromosomes (X and Y), which determines a person's biological sex. Females have two X chromosomes (46, XX), while males possess one X and one Y chromosome (46, XY). Chromosomes vary in size, with the largest being chromosome 1 and the smallest being the Y chromosome.

Human chromosomes are typically visualized during mitosis or meiosis using staining techniques that highlight their banding patterns, allowing for identification of specific regions and genes. Chromosomal abnormalities can lead to various genetic disorders, including Down syndrome (trisomy 21), Turner syndrome (monosomy X), and Klinefelter syndrome (XXY).

Wilms tumor, also known as nephroblastoma, is a type of kidney cancer that primarily affects children. It occurs in the cells of the developing kidneys and is named after Dr. Max Wilms, who first described this type of tumor in 1899. Wilms tumor typically develops before the age of 5, with most cases occurring in children under the age of 3.

The medical definition of Wilms tumor is:

A malignant, embryonal kidney tumor originating from the metanephric blastema, which is a mass of undifferentiated cells in the developing kidney. Wilms tumor is characterized by its rapid growth and potential for spread (metastasis) to other parts of the body, particularly the lungs and liver. The tumor usually presents as a large, firm, and irregular mass in the abdomen, and it may be associated with various symptoms such as abdominal pain, swelling, or blood in the urine.

Wilms tumor is typically treated with a combination of surgery, chemotherapy, and radiation therapy. The prognosis for children with Wilms tumor has improved significantly over the past few decades due to advances in treatment methods and early detection.

Bloom syndrome is a rare genetic disorder characterized by short stature, sun-sensitive skin rash, and an increased risk of developing cancer. It is caused by mutations in the BLM gene, which provides instructions for making a protein that helps prevent tangles and knots from forming in DNA during cell division. As a result, cells with Bloom syndrome have a high rate of genetic recombination, leading to chromosomal instability and an increased risk of cancer.

Individuals with Bloom syndrome typically have a distinctive facial appearance, including a narrow face, small jaw, and a prominent nose. They may also have learning disabilities, fertility problems, and an increased susceptibility to infections. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Bloom syndrome is typically diagnosed through genetic testing and chromosome analysis. Treatment is focused on managing the symptoms and reducing the risk of cancer through regular screenings and lifestyle modifications.

A neoplasm is a tumor or growth that is formed by an abnormal and excessive proliferation of cells, which can be benign or malignant. Neoplasm proteins are therefore any proteins that are expressed or produced in these neoplastic cells. These proteins can play various roles in the development, progression, and maintenance of neoplasms.

Some neoplasm proteins may contribute to the uncontrolled cell growth and division seen in cancer, such as oncogenic proteins that promote cell cycle progression or inhibit apoptosis (programmed cell death). Others may help the neoplastic cells evade the immune system, allowing them to proliferate undetected. Still others may be involved in angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen.

Neoplasm proteins can also serve as biomarkers for cancer diagnosis, prognosis, or treatment response. For example, the presence or level of certain neoplasm proteins in biological samples such as blood or tissue may indicate the presence of a specific type of cancer, help predict the likelihood of cancer recurrence, or suggest whether a particular therapy will be effective.

Overall, understanding the roles and behaviors of neoplasm proteins can provide valuable insights into the biology of cancer and inform the development of new diagnostic and therapeutic strategies.

Micronuclei, chromosome-defective, refer to small additional nuclei that form during cell division when the genetic material is not properly divided between the two resulting daughter cells. These micronuclei can contain whole chromosomes or fragments of chromosomes that were not incorporated into either of the main nuclei during cell division. Chromosome-defective micronuclei are often associated with genomic instability, DNA damage, and chromosomal aberrations, which can lead to various health issues, including cancer and developmental defects. They can be used as a biomarker for genetic damage in cells and are commonly observed in response to exposure to mutagenic agents such as radiation or chemicals.

Aurora kinases are a family of serine/threonine protein kinases that play crucial roles in the regulation of cell division. There are three members of the Aurora kinase family, designated as Aurora A, Aurora B, and Aurora C. These kinases are involved in the proper separation of chromosomes during mitosis and meiosis, and their dysregulation has been implicated in various types of cancer.

Aurora A is primarily located at the centrosomes and spindle poles during cell division, where it regulates centrosome maturation, bipolar spindle formation, and chromosome segregation. Aurora B, on the other hand, is a component of the chromosomal passenger complex (CPC) that localizes to the centromeres during prophase and moves to the spindle midzone during anaphase. It plays essential roles in kinetochore-microtubule attachment, chromosome alignment, and cytokinesis. Aurora C is most similar to Aurora B and appears to have overlapping functions with it, although its specific roles are less well understood.

Dysregulation of Aurora kinases has been associated with various types of cancer, including breast, ovarian, colon, and lung cancers. Overexpression or amplification of Aurora A is observed in many cancers, leading to chromosomal instability and aneuploidy. Inhibition of Aurora kinases has emerged as a potential therapeutic strategy for cancer treatment, with several small molecule inhibitors currently under investigation in clinical trials.

Sister chromatid exchange (SCE) is a type of genetic recombination that takes place between two identical sister chromatids during the DNA repair process in meiosis or mitosis. It results in an exchange of genetic material between the two chromatids, creating a new combination of genes on each chromatid. This event is a normal part of cell division and helps to increase genetic variability within a population. However, an increased rate of SCEs can also be indicative of exposure to certain genotoxic agents or conditions that cause DNA damage.

Experimental neoplasms refer to abnormal growths or tumors that are induced and studied in a controlled laboratory setting, typically in animals or cell cultures. These studies are conducted to understand the fundamental mechanisms of cancer development, progression, and potential treatment strategies. By manipulating various factors such as genetic mutations, environmental exposures, and pharmacological interventions, researchers can gain valuable insights into the complex processes underlying neoplasm formation and identify novel targets for cancer therapy. It is important to note that experimental neoplasms may not always accurately represent human cancers, and further research is needed to translate these findings into clinically relevant applications.

Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.

Telomerase is an enzyme that adds repetitive DNA sequences (telomeres) to the ends of chromosomes, which are lost during each cell division due to the incomplete replication of the ends of linear chromosomes. Telomerase is not actively present in most somatic cells, but it is highly expressed in germ cells and stem cells, allowing them to divide indefinitely. However, in many types of cancer cells, telomerase is abnormally activated, which leads to the maintenance or lengthening of telomeres, contributing to their unlimited replicative potential and tumorigenesis.

A cell line is a culture of cells that are grown in a laboratory for use in research. These cells are usually taken from a single cell or group of cells, and they are able to divide and grow continuously in the lab. Cell lines can come from many different sources, including animals, plants, and humans. They are often used in scientific research to study cellular processes, disease mechanisms, and to test new drugs or treatments. Some common types of human cell lines include HeLa cells (which come from a cancer patient named Henrietta Lacks), HEK293 cells (which come from embryonic kidney cells), and HUVEC cells (which come from umbilical vein endothelial cells). It is important to note that cell lines are not the same as primary cells, which are cells that are taken directly from a living organism and have not been grown in the lab.

Adenocarcinoma is a type of cancer that arises from glandular epithelial cells. These cells line the inside of many internal organs, including the breasts, prostate, colon, and lungs. Adenocarcinomas can occur in any of these organs, as well as in other locations where glands are present.

The term "adenocarcinoma" is used to describe a cancer that has features of glandular tissue, such as mucus-secreting cells or cells that produce hormones. These cancers often form glandular structures within the tumor mass and may produce mucus or other substances.

Adenocarcinomas are typically slow-growing and tend to spread (metastasize) to other parts of the body through the lymphatic system or bloodstream. They can be treated with surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these treatments. The prognosis for adenocarcinoma depends on several factors, including the location and stage of the cancer, as well as the patient's overall health and age.

Chromosome fragile sites are specific locations along the length of a chromosome that are prone to breakage or rearrangement when exposed to certain chemicals or conditions, such as replication stress during cell division. These sites are often characterized by the presence of repetitive DNA sequences and proteins that help maintain the stability of the chromosome.

Fragile sites can be classified into two categories: common and rare. Common fragile sites are present in most individuals and are typically not associated with genetic disorders, while rare fragile sites are less common and may be linked to specific genetic conditions or increased risk for cancer.

When a chromosome breaks at a fragile site, it can lead to various genetic abnormalities such as deletions, duplications, inversions, or translocations of genetic material. These changes can have significant consequences on gene expression and function, potentially leading to developmental disorders, intellectual disability, cancer, or other health issues.

It is important to note that not all fragile sites will result in genetic abnormalities, as some may remain stable under normal conditions. However, certain factors such as environmental exposures, aging, or inherited genetic predispositions can increase the likelihood of chromosomal instability at fragile sites.

Colonic neoplasms refer to abnormal growths in the large intestine, also known as the colon. These growths can be benign (non-cancerous) or malignant (cancerous). The two most common types of colonic neoplasms are adenomas and carcinomas.

Adenomas are benign tumors that can develop into cancer over time if left untreated. They are often found during routine colonoscopies and can be removed during the procedure.

Carcinomas, on the other hand, are malignant tumors that invade surrounding tissues and can spread to other parts of the body. Colorectal cancer is the third leading cause of cancer-related deaths in the United States, and colonic neoplasms are a significant risk factor for developing this type of cancer.

Regular screenings for colonic neoplasms are recommended for individuals over the age of 50 or those with a family history of colorectal cancer or other risk factors. Early detection and removal of colonic neoplasms can significantly reduce the risk of developing colorectal cancer.

DNA methylation is a process by which methyl groups (-CH3) are added to the cytosine ring of DNA molecules, often at the 5' position of cytospine phosphate-deoxyguanosine (CpG) dinucleotides. This modification is catalyzed by DNA methyltransferase enzymes and results in the formation of 5-methylcytosine.

DNA methylation plays a crucial role in the regulation of gene expression, genomic imprinting, X chromosome inactivation, and suppression of transposable elements. Abnormal DNA methylation patterns have been associated with various diseases, including cancer, where tumor suppressor genes are often silenced by promoter methylation.

In summary, DNA methylation is a fundamental epigenetic modification that influences gene expression and genome stability, and its dysregulation has important implications for human health and disease.

The Mad2 (Mitotic Arrest Deficient 2) proteins are a part of the spindle assembly checkpoint (SAC), which is a crucial surveillance mechanism that ensures accurate chromosome segregation during cell division. The primary function of Mad2 proteins is to prevent the onset of anaphase until all chromosomes have achieved proper attachment and tension on the mitotic spindle.

Mad2 proteins exist in two major conformational states: open (O-Mad2) and closed (C-Mad2). The transition between these two forms plays a critical role in the regulation of the SAC. In response to unattached kinetochores, Mad2 proteins bind to and inhibit the anaphase-promoting complex/cyclosome (APC/C), thereby preventing premature chromosome separation.

There are two main isoforms of Mad2 in humans: Mad2L1 (Mad2A) and Mad2L2 (Mad2B). While both isoforms share similar functions, they exhibit distinct biochemical properties and interact with other SAC components differently. Dysregulation of the Mad2 proteins has been implicated in various diseases, including cancer and neurological disorders.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

The spindle apparatus is a microtubule-based structure that plays a crucial role in the process of cell division, specifically during mitosis and meiosis. It consists of three main components:

1. The spindle poles: These are organized structures composed of microtubules and associated proteins that serve as the anchoring points for the spindle fibers. In animal cells, these poles are typically formed by centrosomes, while in plant cells, they form around nucleation sites called microtubule-organizing centers (MTOCs).
2. The spindle fibers: These are dynamic arrays of microtubules that extend between the two spindle poles. They can be categorized into three types: kinetochore fibers, which connect to the kinetochores on chromosomes; astral fibers, which radiate from the spindle poles and help position the spindle within the cell; and interpolar fibers, which lie between the two spindle poles and contribute to their separation during anaphase.
3. Regulatory proteins: Various motor proteins, such as dynein and kinesin, as well as non-motor proteins like tubulin and septins, are involved in the assembly, maintenance, and dynamics of the spindle apparatus. These proteins help to generate forces that move chromosomes, position the spindle, and ultimately segregate genetic material between two daughter cells during cell division.

The spindle apparatus is essential for ensuring accurate chromosome separation and maintaining genomic stability during cell division. Dysfunction of the spindle apparatus can lead to various abnormalities, including aneuploidy (abnormal number of chromosomes) and chromosomal instability, which have been implicated in several diseases, such as cancer and developmental disorders.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

A carcinoid tumor is a type of slow-growing neuroendocrine tumor that usually originates in the digestive tract, particularly in the small intestine. These tumors can also arise in other areas such as the lungs, appendix, and rarely in other organs. Carcinoid tumors develop from cells of the diffuse endocrine system (also known as the neuroendocrine system) that are capable of producing hormones or biologically active amines.

Carcinoid tumors can produce and release various hormones and bioactive substances, such as serotonin, histamine, bradykinins, prostaglandins, and tachykinins, which can lead to a variety of symptoms. The most common syndrome associated with carcinoid tumors is the carcinoid syndrome, characterized by flushing, diarrhea, abdominal cramping, and wheezing or difficulty breathing.

Carcinoid tumors are typically classified as functional or nonfunctional based on whether they produce and secrete hormones that cause symptoms. Functional carcinoid tumors account for approximately 30% of cases and can lead to the development of carcinoid syndrome, while nonfunctional tumors do not produce significant amounts of hormones and are often asymptomatic until they grow large enough to cause local or distant complications.

Treatment options for carcinoid tumors depend on the location, size, and extent of the tumor, as well as whether it is functional or nonfunctional. Treatment may include surgery, medications (such as somatostatin analogs, chemotherapy, or targeted therapies), and radiation therapy. Regular follow-up with imaging studies and biochemical tests is essential to monitor for recurrence and assess treatment response.

Cell division is the process by which a single eukaryotic cell (a cell with a true nucleus) divides into two identical daughter cells. This complex process involves several stages, including replication of DNA, separation of chromosomes, and division of the cytoplasm. There are two main types of cell division: mitosis and meiosis.

Mitosis is the type of cell division that results in two genetically identical daughter cells. It is a fundamental process for growth, development, and tissue repair in multicellular organisms. The stages of mitosis include prophase, prometaphase, metaphase, anaphase, and telophase, followed by cytokinesis, which divides the cytoplasm.

Meiosis, on the other hand, is a type of cell division that occurs in the gonads (ovaries and testes) during the production of gametes (sex cells). Meiosis results in four genetically unique daughter cells, each with half the number of chromosomes as the parent cell. This process is essential for sexual reproduction and genetic diversity. The stages of meiosis include meiosis I and meiosis II, which are further divided into prophase, prometaphase, metaphase, anaphase, and telophase.

In summary, cell division is the process by which a single cell divides into two daughter cells, either through mitosis or meiosis. This process is critical for growth, development, tissue repair, and sexual reproduction in multicellular organisms.

Cell proliferation is the process by which cells increase in number, typically through the process of cell division. In the context of biology and medicine, it refers to the reproduction of cells that makes up living tissue, allowing growth, maintenance, and repair. It involves several stages including the transition from a phase of quiescence (G0 phase) to an active phase (G1 phase), DNA replication in the S phase, and mitosis or M phase, where the cell divides into two daughter cells.

Abnormal or uncontrolled cell proliferation is a characteristic feature of many diseases, including cancer, where deregulated cell cycle control leads to excessive and unregulated growth of cells, forming tumors that can invade surrounding tissues and metastasize to distant sites in the body.

Cytogenetic analysis is a laboratory technique used to identify and study the structure and function of chromosomes, which are the structures in the cell that contain genetic material. This type of analysis involves examining the number, size, shape, and banding pattern of chromosomes in cells, typically during metaphase when they are at their most condensed state.

There are several methods used for cytogenetic analysis, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). Karyotyping involves staining the chromosomes with a dye to visualize their banding patterns and then arranging them in pairs based on their size and shape. FISH uses fluorescent probes to label specific DNA sequences, allowing for the detection of genetic abnormalities such as deletions, duplications, or translocations. CGH compares the DNA content of two samples to identify differences in copy number, which can be used to detect chromosomal imbalances.

Cytogenetic analysis is an important tool in medical genetics and is used for a variety of purposes, including prenatal diagnosis, cancer diagnosis and monitoring, and the identification of genetic disorders.

Spectral karyotyping (SKY) is a molecular cytogenetic technique used to analyze the chromosomal composition and structure of cells. It involves the use of fluorescent probes that bind specifically to each chromosome pair, with each probe labeled with a different color. This allows for the visualization of individual chromosomes in multiple colors throughout the genome, creating a "spectrum" of colors for each chromosome pair.

The technique is particularly useful in identifying complex chromosomal rearrangements, such as translocations, deletions, and duplications, that may be associated with various genetic disorders or cancer. By comparing the spectral karyotype of a patient's cells to a normal reference karyotype, researchers and clinicians can identify abnormalities and gain insights into the underlying genetic causes of diseases.

Overall, spectral karyotyping is an important tool in the field of genetics and genomics, providing a powerful means of visualizing and analyzing chromosomal structure and composition at the molecular level.

Diploidy is a term used in genetics to describe the state of having two sets of chromosomes in each cell. In diploid organisms, one set of chromosomes is inherited from each parent, resulting in a total of 2 sets of chromosomes.

In humans, for example, most cells are diploid and contain 46 chromosomes arranged in 23 pairs. This includes 22 pairs of autosomal chromosomes and one pair of sex chromosomes (XX in females or XY in males). Diploidy is a characteristic feature of many complex organisms, including animals, plants, and fungi.

Diploid cells can undergo a process called meiosis, which results in the formation of haploid cells that contain only one set of chromosomes. These haploid cells can then combine with other haploid cells during fertilization to form a new diploid organism.

Abnormalities in diploidy can lead to genetic disorders, such as Down syndrome, which occurs when an individual has three copies of chromosome 21 instead of the typical two. This extra copy of the chromosome can result in developmental delays and intellectual disabilities.

The cell cycle is a series of events that take place in a cell leading to its division and duplication. It consists of four main phases: G1 phase, S phase, G2 phase, and M phase.

During the G1 phase, the cell grows in size and synthesizes mRNA and proteins in preparation for DNA replication. In the S phase, the cell's DNA is copied, resulting in two complete sets of chromosomes. During the G2 phase, the cell continues to grow and produces more proteins and organelles necessary for cell division.

The M phase is the final stage of the cell cycle and consists of mitosis (nuclear division) and cytokinesis (cytoplasmic division). Mitosis results in two genetically identical daughter nuclei, while cytokinesis divides the cytoplasm and creates two separate daughter cells.

The cell cycle is regulated by various checkpoints that ensure the proper completion of each phase before progressing to the next. These checkpoints help prevent errors in DNA replication and division, which can lead to mutations and cancer.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a laboratory technique used in molecular biology to amplify and detect specific DNA sequences. This technique is particularly useful for the detection and quantification of RNA viruses, as well as for the analysis of gene expression.

The process involves two main steps: reverse transcription and polymerase chain reaction (PCR). In the first step, reverse transcriptase enzyme is used to convert RNA into complementary DNA (cDNA) by reading the template provided by the RNA molecule. This cDNA then serves as a template for the PCR amplification step.

In the second step, the PCR reaction uses two primers that flank the target DNA sequence and a thermostable polymerase enzyme to repeatedly copy the targeted cDNA sequence. The reaction mixture is heated and cooled in cycles, allowing the primers to anneal to the template, and the polymerase to extend the new strand. This results in exponential amplification of the target DNA sequence, making it possible to detect even small amounts of RNA or cDNA.

RT-PCR is a sensitive and specific technique that has many applications in medical research and diagnostics, including the detection of viruses such as HIV, hepatitis C virus, and SARS-CoV-2 (the virus that causes COVID-19). It can also be used to study gene expression, identify genetic mutations, and diagnose genetic disorders.

p53 is a tumor suppressor gene that encodes a protein responsible for controlling cell growth and division. The p53 protein plays a crucial role in preventing the development of cancer by regulating the cell cycle and activating DNA repair processes when genetic damage is detected. If the damage is too severe to be repaired, p53 can trigger apoptosis, or programmed cell death, to prevent the propagation of potentially cancerous cells. Mutations in the TP53 gene, which encodes the p53 protein, are among the most common genetic alterations found in human cancers and are often associated with a poor prognosis.

Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies. It is caused by mutations in genes responsible for the repair of DNA damage. There are several complementation groups (A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P) in Fanconi anemia, based on the genetic defect and the protein it affects.

FA Complementation Group G Protein is also known as FANCG protein or FACA protein. It is a component of the FA/BRCA DNA repair pathway, which plays a crucial role in maintaining genomic stability by repairing DNA interstrand crosslinks (ICLs) and other forms of DNA damage. The FANCG protein functions as a bridge between the upstream FA complex and the downstream FANCD2/FANCI complex in this pathway.

Mutations in the FANCG gene can lead to Fanconi anemia Complementation Group G, which is characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies, similar to other FA complementation groups. The diagnosis of FA Complementation Group G typically involves genetic testing to identify mutations in the FANCG gene. Treatment may include hematopoietic stem cell transplantation, androgen therapy, and surveillance for malignancies.

Fanconi anemia (FA) is a genetic disorder characterized by various developmental abnormalities, bone marrow failure, and increased risk of malignancies. It is caused by mutations in genes involved in the FA complementation group, which are responsible for repairing damaged DNA.

The FA complementation group proteins include FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, and FAAP100. These proteins work together to form the FA core complex, which is responsible for monoubiquitinating FANCD2 and FANCI in response to DNA damage. This modification allows for the recruitment of downstream effectors that facilitate DNA repair and maintain genomic stability.

Defects in any of these FA complementation group proteins can lead to Fanconi anemia, with varying clinical manifestations depending on the specific gene involved and the severity of the mutation.

Neoplastic gene expression regulation refers to the processes that control the production of proteins and other molecules from genes in neoplastic cells, or cells that are part of a tumor or cancer. In a normal cell, gene expression is tightly regulated to ensure that the right genes are turned on or off at the right time. However, in cancer cells, this regulation can be disrupted, leading to the overexpression or underexpression of certain genes.

Neoplastic gene expression regulation can be affected by a variety of factors, including genetic mutations, epigenetic changes, and signals from the tumor microenvironment. These changes can lead to the activation of oncogenes (genes that promote cancer growth and development) or the inactivation of tumor suppressor genes (genes that prevent cancer).

Understanding neoplastic gene expression regulation is important for developing new therapies for cancer, as targeting specific genes or pathways involved in this process can help to inhibit cancer growth and progression.

Telomere shortening is the gradual loss of repetitive DNA sequences and associated proteins from the ends of chromosomes that occurs naturally as cells divide. Telomeres are protective caps at the ends of chromosomes, which prevent the loss of genetic information during cell division. However, each time a cell divides, its telomeres become slightly shorter. When telomeres reach a critically short length, the cell can no longer divide and becomes senescent or dies. This process is thought to contribute to aging and age-related diseases, as well as to the development of cancer.

Neuroendocrine tumors (NETs) are a diverse group of neoplasms that arise from cells of the neuroendocrine system, which is composed of dispersed neuroendocrine cells throughout the body, often in close association with nerves and blood vessels. These cells have the ability to produce and secrete hormones or hormone-like substances in response to various stimuli. NETs can occur in a variety of organs, including the lungs, pancreas, small intestine, colon, rectum, stomach, and thyroid gland, as well as in some less common sites such as the thymus, adrenal glands, and nervous system.

NETs can be functional or nonfunctional, depending on whether they produce and secrete hormones or hormone-like substances that cause specific symptoms related to hormonal excess. Functional NETs may give rise to a variety of clinical syndromes, such as carcinoid syndrome, Zollinger-Ellison syndrome, pancreatic neuroendocrine tumor syndrome (also known as Verner-Morrison or WDHA syndrome), and others. Nonfunctional NETs are more likely to present with symptoms related to the size and location of the tumor, such as abdominal pain, intestinal obstruction, or bleeding.

The diagnosis of NETs typically involves a combination of imaging studies, biochemical tests (e.g., measurement of serum hormone levels), and histopathological examination of tissue samples obtained through biopsy or surgical resection. Treatment options depend on the type, location, stage, and grade of the tumor, as well as the presence or absence of functional symptoms. They may include surgery, radiation therapy, chemotherapy, targeted therapy, and/or peptide receptor radionuclide therapy (PRRT).

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

Brain neoplasms, also known as brain tumors, are abnormal growths of cells within the brain. These growths can be benign (non-cancerous) or malignant (cancerous). Benign brain tumors typically grow slowly and do not spread to other parts of the body. However, they can still cause serious problems if they press on sensitive areas of the brain. Malignant brain tumors, on the other hand, are cancerous and can grow quickly, invading surrounding brain tissue and spreading to other parts of the brain or spinal cord.

Brain neoplasms can arise from various types of cells within the brain, including glial cells (which provide support and insulation for nerve cells), neurons (nerve cells that transmit signals in the brain), and meninges (the membranes that cover the brain and spinal cord). They can also result from the spread of cancer cells from other parts of the body, known as metastatic brain tumors.

Symptoms of brain neoplasms may vary depending on their size, location, and growth rate. Common symptoms include headaches, seizures, weakness or paralysis in the limbs, difficulty with balance and coordination, changes in speech or vision, confusion, memory loss, and changes in behavior or personality.

Treatment for brain neoplasms depends on several factors, including the type, size, location, and grade of the tumor, as well as the patient's age and overall health. Treatment options may include surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these approaches. Regular follow-up care is essential to monitor for recurrence and manage any long-term effects of treatment.

Ionizing radiation is a type of radiation that carries enough energy to ionize atoms or molecules, which means it can knock electrons out of their orbits and create ions. These charged particles can cause damage to living tissue and DNA, making ionizing radiation dangerous to human health. Examples of ionizing radiation include X-rays, gamma rays, and some forms of subatomic particles such as alpha and beta particles. The amount and duration of exposure to ionizing radiation are important factors in determining the potential health effects, which can range from mild skin irritation to an increased risk of cancer and other diseases.

"Cells, cultured" is a medical term that refers to cells that have been removed from an organism and grown in controlled laboratory conditions outside of the body. This process is called cell culture and it allows scientists to study cells in a more controlled and accessible environment than they would have inside the body. Cultured cells can be derived from a variety of sources, including tissues, organs, or fluids from humans, animals, or cell lines that have been previously established in the laboratory.

Cell culture involves several steps, including isolation of the cells from the tissue, purification and characterization of the cells, and maintenance of the cells in appropriate growth conditions. The cells are typically grown in specialized media that contain nutrients, growth factors, and other components necessary for their survival and proliferation. Cultured cells can be used for a variety of purposes, including basic research, drug development and testing, and production of biological products such as vaccines and gene therapies.

It is important to note that cultured cells may behave differently than they do in the body, and results obtained from cell culture studies may not always translate directly to human physiology or disease. Therefore, it is essential to validate findings from cell culture experiments using additional models and ultimately in clinical trials involving human subjects.

RecQ helicases are a group of enzymes that belong to the RecQ family, which are named after the E. coli RecQ protein. These helicases play crucial roles in maintaining genomic stability by participating in various DNA metabolic processes such as DNA replication, repair, recombination, and transcription. They are highly conserved across different species, including bacteria, yeast, plants, and mammals.

In humans, there are five RecQ helicases: RECQL1, RECQL4, RECQL5, BLM (RecQ-like helicase), and WRN (Werner syndrome ATP-dependent helicase). Defects in these proteins have been linked to various genetic disorders. For instance, mutations in the BLM gene cause Bloom's syndrome, while mutations in the WRN gene lead to Werner syndrome, both of which are characterized by genomic instability and increased cancer predisposition.

RecQ helicases possess 3'-5' DNA helicase activity, unwinding double-stranded DNA into single strands, and can also perform other functions like branch migration, strand annealing, and removal of protein-DNA crosslinks. Their roles in DNA metabolism help prevent and resolve DNA damage, maintain proper chromosome segregation during cell division, and ensure the integrity of the genome.

A centromere is a specialized region found on chromosomes that plays a crucial role in the separation of replicated chromosomes during cell division. It is the point where the sister chromatids (the two copies of a chromosome formed during DNA replication) are joined together. The centromere contains highly repeated DNA sequences and proteins that form a complex structure known as the kinetochore, which serves as an attachment site for microtubules of the mitotic spindle during cell division.

During mitosis or meiosis, the kinetochore facilitates the movement of chromosomes by interacting with the microtubules, allowing for the accurate distribution of genetic material to the daughter cells. Centromeres can vary in their position and structure among different species, ranging from being located near the middle of the chromosome (metacentric) to being positioned closer to one end (acrocentric). The precise location and characteristics of centromeres are essential for proper chromosome segregation and maintenance of genomic stability.

The tumor microenvironment (TME) is a complex and dynamic setting that consists of various cellular and non-cellular components, which interact with each other and contribute to the growth, progression, and dissemination of cancer. The TME includes:

1. Cancer cells: These are the malignant cells that grow uncontrollably, invade surrounding tissues, and can spread to distant organs.
2. Stromal cells: These are non-cancerous cells present within the tumor, including fibroblasts, immune cells, adipocytes, and endothelial cells. They play a crucial role in supporting the growth of cancer cells by providing structural and nutritional support, modulating the immune response, and promoting angiogenesis (the formation of new blood vessels).
3. Extracellular matrix (ECM): This is the non-cellular component of the TME, consisting of a network of proteins, glycoproteins, and polysaccharides that provide structural support and regulate cell behavior. The ECM can be remodeled by both cancer and stromal cells, leading to changes in tissue stiffness, architecture, and signaling pathways.
4. Soluble factors: These include various cytokines, chemokines, growth factors, and metabolites that are secreted by both cancer and stromal cells. They can act as signaling molecules, influencing cell behavior, survival, proliferation, and migration.
5. Blood vessels: The formation of new blood vessels (angiogenesis) within the TME is essential for providing nutrients and oxygen to support the growth of cancer cells. The vasculature in the TME is often disorganized, leading to hypoxic (low oxygen) regions and altered drug delivery.
6. Immune cells: The TME contains various immune cell populations, such as tumor-associated macrophages (TAMs), dendritic cells, natural killer (NK) cells, and different subsets of T lymphocytes. These cells can either promote or inhibit the growth and progression of cancer, depending on their phenotype and activation status.
7. Niche: A specific microenvironment within the TME that supports the survival and function of cancer stem cells (CSCs) or tumor-initiating cells. The niche is often characterized by unique cellular components, signaling molecules, and physical properties that contribute to the maintenance and propagation of CSCs.

Understanding the complex interactions between these various components in the TME can provide valuable insights into cancer biology and help inform the development of novel therapeutic strategies.

Gene dosage, in genetic terms, refers to the number of copies of a particular gene present in an organism's genome. Each gene usually has two copies (alleles) in diploid organisms, one inherited from each parent. An increase or decrease in the number of copies of a specific gene can lead to changes in the amount of protein it encodes, which can subsequently affect various biological processes and phenotypic traits.

For example, gene dosage imbalances have been associated with several genetic disorders, such as Down syndrome (trisomy 21), where an individual has three copies of chromosome 21 instead of the typical two copies, leading to developmental delays and intellectual disabilities. Similarly, in certain cases of cancer, gene amplification (an increase in the number of copies of a particular gene) can result in overexpression of oncogenes, contributing to tumor growth and progression.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Breast neoplasms refer to abnormal growths in the breast tissue that can be benign or malignant. Benign breast neoplasms are non-cancerous tumors or growths, while malignant breast neoplasms are cancerous tumors that can invade surrounding tissues and spread to other parts of the body.

Breast neoplasms can arise from different types of cells in the breast, including milk ducts, milk sacs (lobules), or connective tissue. The most common type of breast cancer is ductal carcinoma, which starts in the milk ducts and can spread to other parts of the breast and nearby structures.

Breast neoplasms are usually detected through screening methods such as mammography, ultrasound, or MRI, or through self-examination or clinical examination. Treatment options for breast neoplasms depend on several factors, including the type and stage of the tumor, the patient's age and overall health, and personal preferences. Treatment may include surgery, radiation therapy, chemotherapy, hormone therapy, or targeted therapy.

A micronucleus test is a type of genetic toxicology assay used to detect the presence of micronuclei in cells, which are small chromosomal fragments or whole chromosomes that have been missegregated during cell division. The test measures the frequency of micronuclei in cells exposed to a potential genotoxic agent, such as a chemical or radiation, and compares it to the frequency in untreated control cells.

The assay is typically performed on cultured mammalian cells, such as human lymphocytes or Chinese hamster ovary (CHO) cells, and involves exposing the cells to the test agent for a specific period of time, followed by staining and examination of the cells under a microscope. The micronuclei are identified based on their size, shape, and staining characteristics, and the frequency of micronucleated cells is calculated as a measure of genotoxic potential.

Micronucleus tests are widely used in regulatory toxicology to assess the genetic safety of chemicals, drugs, and other substances, and can provide valuable information on potential risks to human health. The test is also used in basic research to study the mechanisms of genotoxicity and chromosomal instability.

Neoplasm staging is a systematic process used in medicine to describe the extent of spread of a cancer, including the size and location of the original (primary) tumor and whether it has metastasized (spread) to other parts of the body. The most widely accepted system for this purpose is the TNM classification system developed by the American Joint Committee on Cancer (AJCC) and the Union for International Cancer Control (UICC).

In this system, T stands for tumor, and it describes the size and extent of the primary tumor. N stands for nodes, and it indicates whether the cancer has spread to nearby lymph nodes. M stands for metastasis, and it shows whether the cancer has spread to distant parts of the body.

Each letter is followed by a number that provides more details about the extent of the disease. For example, a T1N0M0 cancer means that the primary tumor is small and has not spread to nearby lymph nodes or distant sites. The higher the numbers, the more advanced the cancer.

Staging helps doctors determine the most appropriate treatment for each patient and estimate the patient's prognosis. It is an essential tool for communication among members of the healthcare team and for comparing outcomes of treatments in clinical trials.

Immunohistochemistry (IHC) is a technique used in pathology and laboratory medicine to identify specific proteins or antigens in tissue sections. It combines the principles of immunology and histology to detect the presence and location of these target molecules within cells and tissues. This technique utilizes antibodies that are specific to the protein or antigen of interest, which are then tagged with a detection system such as a chromogen or fluorophore. The stained tissue sections can be examined under a microscope, allowing for the visualization and analysis of the distribution and expression patterns of the target molecule in the context of the tissue architecture. Immunohistochemistry is widely used in diagnostic pathology to help identify various diseases, including cancer, infectious diseases, and immune-mediated disorders.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Gene amplification is a process in molecular biology where a specific gene or set of genes are copied multiple times, leading to an increased number of copies of that gene within the genome. This can occur naturally in cells as a response to various stimuli, such as stress or exposure to certain chemicals, but it can also be induced artificially through laboratory techniques for research purposes.

In cancer biology, gene amplification is often associated with tumor development and progression, where the amplified genes can contribute to increased cell growth, survival, and drug resistance. For example, the overamplification of the HER2/neu gene in breast cancer has been linked to more aggressive tumors and poorer patient outcomes.

In diagnostic and research settings, gene amplification techniques like polymerase chain reaction (PCR) are commonly used to detect and analyze specific genes or genetic sequences of interest. These methods allow researchers to quickly and efficiently generate many copies of a particular DNA sequence, facilitating downstream analysis and detection of low-abundance targets.

'Mammary neoplasms, experimental' is not a recognized medical term. However, I can provide definitions for the individual terms:

1. Mammary: Pertaining to the breast or mammary glands in females, which are responsible for milk production.
2. Neoplasms: Abnormal growths of tissue, also known as tumors or masses, that can be benign (non-cancerous) or malignant (cancerous).
3. Experimental: Relating to a scientific experiment or study, typically conducted in a controlled setting to test hypotheses and gather data.

In the context of medical research, 'experimental mammary neoplasms' may refer to artificially induced breast tumors in laboratory animals (such as rats or mice) for the purpose of studying the development, progression, treatment, and prevention of breast cancer. These studies can help researchers better understand the biology of breast cancer and develop new therapies and strategies for its diagnosis and management.

Double-stranded DNA breaks (DSBs) refer to a type of damage that occurs in the DNA molecule when both strands of the double helix are severed or broken at the same location. This kind of damage is particularly harmful to cells because it can disrupt the integrity and continuity of the genetic material, potentially leading to genomic instability, mutations, and cell death if not properly repaired.

DSBs can arise from various sources, including exposure to ionizing radiation, chemical agents, free radicals, reactive oxygen species (ROS), and errors during DNA replication or repair processes. Unrepaired or incorrectly repaired DSBs have been implicated in numerous human diseases, such as cancer, neurodegenerative disorders, and premature aging.

Cells possess several mechanisms to repair double-stranded DNA breaks, including homologous recombination (HR) and non-homologous end joining (NHEJ). HR is a more accurate repair pathway that uses a homologous template, typically the sister chromatid, to restore the original DNA sequence. NHEJ, on the other hand, directly ligates the broken ends together, often resulting in small deletions or insertions at the break site and increased risk of errors. The choice between these two pathways depends on various factors, such as the cell cycle stage, the presence of nearby breaks, and the availability of repair proteins.

In summary, double-stranded DNA breaks are severe forms of DNA damage that can have detrimental consequences for cells if not properly repaired. Cells employ multiple mechanisms to address DSBs, with homologous recombination and non-homologous end joining being the primary repair pathways.

Metaphase is a phase in the cell division process (mitosis or meiosis) where the chromosomes align in the middle of the cell, also known as the metaphase plate or equatorial plane. During this stage, each chromosome consists of two sister chromatids attached to each other by a protein complex called the centromere. The spindle fibers from opposite poles of the cell attach to the centromeres of each chromosome, and through a process called congression, they align the chromosomes in the middle of the cell. This alignment allows for accurate segregation of genetic material during the subsequent anaphase stage.

Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.

Examples of biological models include:

1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.

Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.

Cell survival refers to the ability of a cell to continue living and functioning normally, despite being exposed to potentially harmful conditions or treatments. This can include exposure to toxins, radiation, chemotherapeutic drugs, or other stressors that can damage cells or interfere with their normal processes.

In scientific research, measures of cell survival are often used to evaluate the effectiveness of various therapies or treatments. For example, researchers may expose cells to a particular drug or treatment and then measure the percentage of cells that survive to assess its potential therapeutic value. Similarly, in toxicology studies, measures of cell survival can help to determine the safety of various chemicals or substances.

It's important to note that cell survival is not the same as cell proliferation, which refers to the ability of cells to divide and multiply. While some treatments may promote cell survival, they may also inhibit cell proliferation, making them useful for treating diseases such as cancer. Conversely, other treatments may be designed to specifically target and kill cancer cells, even if it means sacrificing some healthy cells in the process.

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

Squamous cell carcinoma is a type of skin cancer that begins in the squamous cells, which are flat, thin cells that form the outer layer of the skin (epidermis). It commonly occurs on sun-exposed areas such as the face, ears, lips, and backs of the hands. Squamous cell carcinoma can also develop in other areas of the body including the mouth, lungs, and cervix.

This type of cancer usually develops slowly and may appear as a rough or scaly patch of skin, a red, firm nodule, or a sore or ulcer that doesn't heal. While squamous cell carcinoma is not as aggressive as some other types of cancer, it can metastasize (spread) to other parts of the body if left untreated, making early detection and treatment important.

Risk factors for developing squamous cell carcinoma include prolonged exposure to ultraviolet (UV) radiation from the sun or tanning beds, fair skin, a history of sunburns, a weakened immune system, and older age. Prevention measures include protecting your skin from the sun by wearing protective clothing, using a broad-spectrum sunscreen with an SPF of at least 30, avoiding tanning beds, and getting regular skin examinations.

Comparative genomic hybridization (CGH) is a molecular cytogenetic technique used to detect and measure changes in the DNA content of an individual's genome. It is a type of microarray-based analysis that compares the DNA of two samples, typically a test sample and a reference sample, to identify copy number variations (CNVs), including gains or losses of genetic material.

In CGH, the DNA from both samples is labeled with different fluorescent dyes, typically one sample with a green fluorophore and the other with a red fluorophore. The labeled DNAs are then co-hybridized to a microarray, which contains thousands of DNA probes representing specific genomic regions. The intensity of each spot on the array reflects the amount of DNA from each sample that has hybridized to the probe.

By comparing the ratio of green to red fluorescence intensities for each probe, CGH can detect gains or losses of genetic material in the test sample relative to the reference sample. A ratio of 1 indicates no difference in copy number between the two samples, while a ratio greater than 1 suggests a gain of genetic material, and a ratio less than 1 suggests a loss.

CGH is a powerful tool for detecting genomic imbalances associated with various genetic disorders, including cancer, developmental delay, intellectual disability, and congenital abnormalities. It can also be used to study the genomics of organisms in evolutionary biology and ecological studies.

Ataxia telangiectasia mutated (ATM) proteins are a type of protein that play a crucial role in the maintenance and repair of DNA in cells. The ATM gene produces these proteins, which are involved in several important cellular processes such as:

1. DNA damage response: When DNA is damaged, ATM proteins help to detect and respond to the damage by activating various signaling pathways that lead to DNA repair or apoptosis (programmed cell death) if the damage is too severe.
2. Cell cycle regulation: ATM proteins regulate the cell cycle by controlling checkpoints that ensure proper DNA replication and division. This helps prevent the propagation of cells with damaged DNA.
3. Telomere maintenance: ATM proteins help maintain telomeres, which are the protective caps at the ends of chromosomes. Telomeres shorten as cells divide, and when they become too short, cells can no longer divide and enter a state of senescence or die.

Mutations in the ATM gene can lead to Ataxia-telangiectasia (A-T), a rare inherited disorder characterized by neurological problems, immune system dysfunction, increased risk of cancer, and sensitivity to ionizing radiation. People with A-T have defective ATM proteins that cannot properly respond to DNA damage, leading to genomic instability and increased susceptibility to disease.

Kinetochores are specialized protein structures that form on the centromere region of a chromosome. They play a crucial role in the process of cell division, specifically during mitosis and meiosis. The primary function of kinetochores is to connect the chromosomes to the microtubules of the spindle apparatus, which is responsible for separating the sister chromatids during cell division. Through this connection, kinetochores facilitate the movement of chromosomes towards opposite poles of the cell during anaphase, ensuring equal distribution of genetic material to each resulting daughter cell.

Western blotting is a laboratory technique used in molecular biology to detect and quantify specific proteins in a mixture of many different proteins. This technique is commonly used to confirm the expression of a protein of interest, determine its size, and investigate its post-translational modifications. The name "Western" blotting distinguishes this technique from Southern blotting (for DNA) and Northern blotting (for RNA).

The Western blotting procedure involves several steps:

1. Protein extraction: The sample containing the proteins of interest is first extracted, often by breaking open cells or tissues and using a buffer to extract the proteins.
2. Separation of proteins by electrophoresis: The extracted proteins are then separated based on their size by loading them onto a polyacrylamide gel and running an electric current through the gel (a process called sodium dodecyl sulfate-polyacrylamide gel electrophoresis or SDS-PAGE). This separates the proteins according to their molecular weight, with smaller proteins migrating faster than larger ones.
3. Transfer of proteins to a membrane: After separation, the proteins are transferred from the gel onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric current in a process called blotting. This creates a replica of the protein pattern on the gel but now immobilized on the membrane for further analysis.
4. Blocking: The membrane is then blocked with a blocking agent, such as non-fat dry milk or bovine serum albumin (BSA), to prevent non-specific binding of antibodies in subsequent steps.
5. Primary antibody incubation: A primary antibody that specifically recognizes the protein of interest is added and allowed to bind to its target protein on the membrane. This step may be performed at room temperature or 4°C overnight, depending on the antibody's properties.
6. Washing: The membrane is washed with a buffer to remove unbound primary antibodies.
7. Secondary antibody incubation: A secondary antibody that recognizes the primary antibody (often coupled to an enzyme or fluorophore) is added and allowed to bind to the primary antibody. This step may involve using a horseradish peroxidase (HRP)-conjugated or alkaline phosphatase (AP)-conjugated secondary antibody, depending on the detection method used later.
8. Washing: The membrane is washed again to remove unbound secondary antibodies.
9. Detection: A detection reagent is added to visualize the protein of interest by detecting the signal generated from the enzyme-conjugated or fluorophore-conjugated secondary antibody. This can be done using chemiluminescent, colorimetric, or fluorescent methods.
10. Analysis: The resulting image is analyzed to determine the presence and quantity of the protein of interest in the sample.

Western blotting is a powerful technique for identifying and quantifying specific proteins within complex mixtures. It can be used to study protein expression, post-translational modifications, protein-protein interactions, and more. However, it requires careful optimization and validation to ensure accurate and reproducible results.

An adenoma is a benign (noncancerous) tumor that develops from glandular epithelial cells. These types of cells are responsible for producing and releasing fluids, such as hormones or digestive enzymes, into the surrounding tissues. Adenomas can occur in various organs and glands throughout the body, including the thyroid, pituitary, adrenal, and digestive systems.

Depending on their location, adenomas may cause different symptoms or remain asymptomatic. Some common examples of adenomas include:

1. Colorectal adenoma (also known as a polyp): These growths occur in the lining of the colon or rectum and can develop into colorectal cancer if left untreated. Regular screenings, such as colonoscopies, are essential for early detection and removal of these polyps.
2. Thyroid adenoma: This type of adenoma affects the thyroid gland and may result in an overproduction or underproduction of hormones, leading to conditions like hyperthyroidism (overactive thyroid) or hypothyroidism (underactive thyroid).
3. Pituitary adenoma: These growths occur in the pituitary gland, which is located at the base of the brain and controls various hormonal functions. Depending on their size and location, pituitary adenomas can cause vision problems, headaches, or hormonal imbalances that affect growth, reproduction, and metabolism.
4. Liver adenoma: These rare benign tumors develop in the liver and may not cause any symptoms unless they become large enough to press on surrounding organs or structures. In some cases, liver adenomas can rupture and cause internal bleeding.
5. Adrenal adenoma: These growths occur in the adrenal glands, which are located above the kidneys and produce hormones that regulate stress responses, metabolism, and blood pressure. Most adrenal adenomas are nonfunctioning, meaning they do not secrete excess hormones. However, functioning adrenal adenomas can lead to conditions like Cushing's syndrome or Conn's syndrome, depending on the type of hormone being overproduced.

It is essential to monitor and manage benign tumors like adenomas to prevent potential complications, such as rupture, bleeding, or hormonal imbalances. Treatment options may include surveillance with imaging studies, medication to manage hormonal issues, or surgical removal of the tumor in certain cases.

Mitomycin is an antineoplastic antibiotic derived from Streptomyces caespitosus. It is primarily used in cancer chemotherapy, particularly in the treatment of various carcinomas including gastrointestinal tract malignancies and breast cancer. Mitomycin works by forming cross-links in DNA, thereby inhibiting its replication and transcription, which ultimately leads to cell death.

In addition to its systemic use, mitomycin is also used topically in ophthalmology for the treatment of certain eye conditions such as glaucoma and various ocular surface disorders. The topical application of mitomycin can help reduce scarring and fibrosis by inhibiting the proliferation of fibroblasts.

It's important to note that mitomycin has a narrow therapeutic index, meaning there is only a small range between an effective dose and a toxic one. Therefore, its use should be closely monitored to minimize side effects, which can include myelosuppression, mucositis, alopecia, and potential secondary malignancies.

Liver neoplasms refer to abnormal growths in the liver that can be benign or malignant. Benign liver neoplasms are non-cancerous tumors that do not spread to other parts of the body, while malignant liver neoplasms are cancerous tumors that can invade and destroy surrounding tissue and spread to other organs.

Liver neoplasms can be primary, meaning they originate in the liver, or secondary, meaning they have metastasized (spread) to the liver from another part of the body. Primary liver neoplasms can be further classified into different types based on their cell of origin and behavior, including hepatocellular carcinoma, cholangiocarcinoma, and hepatic hemangioma.

The diagnosis of liver neoplasms typically involves a combination of imaging studies, such as ultrasound, CT scan, or MRI, and biopsy to confirm the type and stage of the tumor. Treatment options depend on the type and extent of the neoplasm and may include surgery, radiation therapy, chemotherapy, or liver transplantation.

Pathologic neovascularization is the abnormal growth of new blood vessels in previously avascular tissue or excessive growth within existing vasculature, which occurs as a result of hypoxia, inflammation, or angiogenic stimuli. These newly formed vessels are often disorganized, fragile, and lack proper vessel hierarchy, leading to impaired blood flow and increased vascular permeability. Pathologic neovascularization can be observed in various diseases such as cancer, diabetic retinopathy, age-related macular degeneration, and chronic inflammation. This process contributes to disease progression by promoting tumor growth, metastasis, and edema formation, ultimately leading to tissue damage and organ dysfunction.

Radiation tolerance, in the context of medicine and particularly radiation oncology, refers to the ability of tissues or organs to withstand and recover from exposure to ionizing radiation without experiencing significant damage or loss of function. It is often used to describe the maximum dose of radiation that can be safely delivered to a specific area of the body during radiotherapy treatments.

Radiation tolerance varies depending on the type and location of the tissue or organ. For example, some tissues such as the brain, spinal cord, and lungs have lower radiation tolerance than others like the skin or bone. Factors that can affect radiation tolerance include the total dose of radiation, the fractionation schedule (the number and size of radiation doses), the volume of tissue treated, and the individual patient's overall health and genetic factors.

Assessing radiation tolerance is critical in designing safe and effective radiotherapy plans for cancer patients, as excessive radiation exposure can lead to serious side effects such as radiation-induced injury, fibrosis, or even secondary malignancies.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Nucleic acid hybridization is a process in molecular biology where two single-stranded nucleic acids (DNA, RNA) with complementary sequences pair together to form a double-stranded molecule through hydrogen bonding. The strands can be from the same type of nucleic acid or different types (i.e., DNA-RNA or DNA-cDNA). This process is commonly used in various laboratory techniques, such as Southern blotting, Northern blotting, polymerase chain reaction (PCR), and microarray analysis, to detect, isolate, and analyze specific nucleic acid sequences. The hybridization temperature and conditions are critical to ensure the specificity of the interaction between the two strands.

Neoplasm metastasis is the spread of cancer cells from the primary site (where the original or primary tumor formed) to other places in the body. This happens when cancer cells break away from the original (primary) tumor and enter the bloodstream or lymphatic system. The cancer cells can then travel to other parts of the body and form new tumors, called secondary tumors or metastases.

Metastasis is a key feature of malignant neoplasms (cancers), and it is one of the main ways that cancer can cause harm in the body. The metastatic tumors may continue to grow and may cause damage to the organs and tissues where they are located. They can also release additional cancer cells into the bloodstream or lymphatic system, leading to further spread of the cancer.

The metastatic tumors are named based on the location where they are found, as well as the type of primary cancer. For example, if a patient has a primary lung cancer that has metastasized to the liver, the metastatic tumor would be called a liver metastasis from lung cancer.

It is important to note that the presence of metastases can significantly affect a person's prognosis and treatment options. In general, metastatic cancer is more difficult to treat than cancer that has not spread beyond its original site. However, there are many factors that can influence a person's prognosis and response to treatment, so it is important for each individual to discuss their specific situation with their healthcare team.

Ras genes are a group of genes that encode for proteins involved in cell signaling pathways that regulate cell growth, differentiation, and survival. Mutations in Ras genes have been associated with various types of cancer, as well as other diseases such as developmental disorders and autoimmune diseases. The Ras protein family includes H-Ras, K-Ras, and N-Ras, which are activated by growth factor receptors and other signals to activate downstream effectors involved in cell proliferation and survival. Abnormal activation of Ras signaling due to mutations or dysregulation can contribute to tumor development and progression.

Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.

Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.

M Phase cell cycle checkpoints are control mechanisms that ensure the proper completion of the M phase (mitosis or meiosis) of the cell cycle. These checkpoints verify that certain conditions are met before the cell proceeds to the next phase of the cell cycle, thus helping to maintain genomic stability and prevent errors such as chromosomal mutations or aneuploidy.

There are two main M Phase cell cycle checkpoints:

1. The G2/M Checkpoint: This checkpoint is activated at the end of the G2 phase and verifies that all DNA has been replicated accurately, and that there are no DNA damages or other issues that could interfere with mitosis. If any problems are detected, the cell cycle is halted until they can be resolved.
2. The Mitotic Spindle Checkpoint: This checkpoint ensures that all chromosomes have attached properly to the spindle apparatus and that they will be equally distributed to the two resulting daughter cells during mitosis. If any chromosomes are not properly attached or if there is an issue with the spindle apparatus, the cell cycle is paused until these problems are corrected.

These checkpoints play a crucial role in maintaining genomic stability and preventing the development of cancer and other diseases.

Flow cytometry is a medical and research technique used to measure physical and chemical characteristics of cells or particles, one cell at a time, as they flow in a fluid stream through a beam of light. The properties measured include:

* Cell size (light scatter)
* Cell internal complexity (granularity, also light scatter)
* Presence or absence of specific proteins or other molecules on the cell surface or inside the cell (using fluorescent antibodies or other fluorescent probes)

The technique is widely used in cell counting, cell sorting, protein engineering, biomarker discovery and monitoring disease progression, particularly in hematology, immunology, and cancer research.

A meningioma is a type of slow-growing tumor that forms on the membranes (meninges) surrounding the brain and spinal cord. It's usually benign, meaning it doesn't spread to other parts of the body, but it can still cause serious problems if it grows and presses on nearby tissues.

Meningiomas most commonly occur in adults, and are more common in women than men. They can cause various symptoms depending on their location and size, including headaches, seizures, vision or hearing problems, memory loss, and changes in personality or behavior. In some cases, they may not cause any symptoms at all and are discovered only during imaging tests for other conditions.

Treatment options for meningiomas include monitoring with regular imaging scans, surgery to remove the tumor, and radiation therapy to shrink or kill the tumor cells. The best treatment approach depends on factors such as the size and location of the tumor, the patient's age and overall health, and their personal preferences.

X-rays, also known as radiographs, are a type of electromagnetic radiation with higher energy and shorter wavelength than visible light. In medical imaging, X-rays are used to produce images of the body's internal structures, such as bones and organs, by passing the X-rays through the body and capturing the resulting shadows or patterns on a specialized film or digital detector.

The amount of X-ray radiation used is carefully controlled to minimize exposure and ensure patient safety. Different parts of the body absorb X-rays at different rates, allowing for contrast between soft tissues and denser structures like bone. This property makes X-rays an essential tool in diagnosing and monitoring a wide range of medical conditions, including fractures, tumors, infections, and foreign objects within the body.

Gene expression profiling is a laboratory technique used to measure the activity (expression) of thousands of genes at once. This technique allows researchers and clinicians to identify which genes are turned on or off in a particular cell, tissue, or organism under specific conditions, such as during health, disease, development, or in response to various treatments.

The process typically involves isolating RNA from the cells or tissues of interest, converting it into complementary DNA (cDNA), and then using microarray or high-throughput sequencing technologies to determine which genes are expressed and at what levels. The resulting data can be used to identify patterns of gene expression that are associated with specific biological states or processes, providing valuable insights into the underlying molecular mechanisms of diseases and potential targets for therapeutic intervention.

In recent years, gene expression profiling has become an essential tool in various fields, including cancer research, drug discovery, and personalized medicine, where it is used to identify biomarkers of disease, predict patient outcomes, and guide treatment decisions.

Human chromosome pair 4 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical or very similar in length and gene content. Chromosomes are made up of DNA, which contains genetic information, and proteins that package and organize the DNA.

Human chromosomes are numbered from 1 to 22, with chromosome pair 4 being one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome pair 4 is a medium-sized pair and contains an estimated 1,800-2,000 genes. These genes provide instructions for making proteins that are essential for various functions in the body, such as development, growth, and metabolism.

Abnormalities in chromosome pair 4 can lead to genetic disorders, including Wolf-Hirschhorn syndrome, which is caused by a deletion of part of the short arm of chromosome 4, and 4p16.3 microdeletion syndrome, which is caused by a deletion of a specific region on the short arm of chromosome 4. These conditions can result in developmental delays, intellectual disability, physical abnormalities, and other health problems.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Human chromosome pair 17 consists of two rod-shaped structures present in the nucleus of each human cell. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex called chromatin. Chromosomes carry genetic information in the form of genes, which are segments of DNA that contain instructions for the development and function of an organism.

Human cells typically have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 17 is one of the autosomal pairs, meaning it is not a sex chromosome (X or Y). Chromosome 17 is a medium-sized chromosome and contains an estimated 800 million base pairs of DNA. It contains approximately 1,500 genes that provide instructions for making proteins and regulating various cellular processes.

Chromosome 17 is associated with several genetic disorders, including inherited cancer syndromes such as Li-Fraumeni syndrome and hereditary nonpolyposis colorectal cancer (HNPCC). Mutations in genes located on chromosome 17 can increase the risk of developing various types of cancer, including breast, ovarian, colon, and pancreatic cancer.

Lymphoma is a type of cancer that originates from the white blood cells called lymphocytes, which are part of the immune system. These cells are found in various parts of the body such as the lymph nodes, spleen, bone marrow, and other organs. Lymphoma can be classified into two main types: Hodgkin lymphoma (HL) and non-Hodgkin lymphoma (NHL).

HL is characterized by the presence of a specific type of abnormal lymphocyte called Reed-Sternberg cells, while NHL includes a diverse group of lymphomas that lack these cells. The symptoms of lymphoma may include swollen lymph nodes, fever, night sweats, weight loss, and fatigue.

The exact cause of lymphoma is not known, but it is believed to result from genetic mutations in the lymphocytes that lead to uncontrolled cell growth and division. Exposure to certain viruses, chemicals, and radiation may increase the risk of developing lymphoma. Treatment options for lymphoma depend on various factors such as the type and stage of the disease, age, and overall health of the patient. Common treatments include chemotherapy, radiation therapy, immunotherapy, and stem cell transplantation.

Transfection is a term used in molecular biology that refers to the process of deliberately introducing foreign genetic material (DNA, RNA or artificial gene constructs) into cells. This is typically done using chemical or physical methods, such as lipofection or electroporation. Transfection is widely used in research and medical settings for various purposes, including studying gene function, producing proteins, developing gene therapies, and creating genetically modified organisms. It's important to note that transfection is different from transduction, which is the process of introducing genetic material into cells using viruses as vectors.

Prognosis is a medical term that refers to the prediction of the likely outcome or course of a disease, including the chances of recovery or recurrence, based on the patient's symptoms, medical history, physical examination, and diagnostic tests. It is an important aspect of clinical decision-making and patient communication, as it helps doctors and patients make informed decisions about treatment options, set realistic expectations, and plan for future care.

Prognosis can be expressed in various ways, such as percentages, categories (e.g., good, fair, poor), or survival rates, depending on the nature of the disease and the available evidence. However, it is important to note that prognosis is not an exact science and may vary depending on individual factors, such as age, overall health status, and response to treatment. Therefore, it should be used as a guide rather than a definitive forecast.

Anaphase is a stage in the cell division process called mitosis, where sister chromatids (the two copies of each chromosome formed during DNA replication) separate at the centromeres and move toward opposite poles of the cell. This separation is facilitated by the attachment of microtubules from the spindle apparatus to the kinetochores, protein structures located on the centromeres of each sister chromatid. Anaphase is followed by telophase, during which the nuclear membrane reforms around each set of separated chromosomes, and cytokinesis, the division of the cytoplasm to form two separate daughter cells.

Translocation, genetic, refers to a type of chromosomal abnormality in which a segment of a chromosome is transferred from one chromosome to another, resulting in an altered genome. This can occur between two non-homologous chromosomes (non-reciprocal translocation) or between two homologous chromosomes (reciprocal translocation). Genetic translocations can lead to various clinical consequences, depending on the genes involved and the location of the translocation. Some translocations may result in no apparent effects, while others can cause developmental abnormalities, cancer, or other genetic disorders. In some cases, translocations can also increase the risk of having offspring with genetic conditions.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

DNA replication is the biological process by which DNA makes an identical copy of itself during cell division. It is a fundamental mechanism that allows genetic information to be passed down from one generation of cells to the next. During DNA replication, each strand of the double helix serves as a template for the synthesis of a new complementary strand. This results in the creation of two identical DNA molecules. The enzymes responsible for DNA replication include helicase, which unwinds the double helix, and polymerase, which adds nucleotides to the growing strands.

Heterologous transplantation is a type of transplantation where an organ or tissue is transferred from one species to another. This is in contrast to allogeneic transplantation, where the donor and recipient are of the same species, or autologous transplantation, where the donor and recipient are the same individual.

In heterologous transplantation, the immune systems of the donor and recipient are significantly different, which can lead to a strong immune response against the transplanted organ or tissue. This is known as a graft-versus-host disease (GVHD), where the immune cells in the transplanted tissue attack the recipient's body.

Heterologous transplantation is not commonly performed in clinical medicine due to the high risk of rejection and GVHD. However, it may be used in research settings to study the biology of transplantation and to develop new therapies for transplant rejection.

Fanconi anemia complementation group C protein, also known as FANCC protein, is a component of the Fanconi anemia (FA) DNA repair pathway. This protein plays a critical role in protecting cells from oxidative stress and maintaining genomic stability. Mutations in the FANCC gene can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of cancer.

FANCC protein functions as part of a complex that includes other FA proteins, which work together to repair DNA damage caused by interstrand crosslinks (ICLs) - a type of DNA lesion that can lead to genomic instability and cancer. When the FA pathway is activated in response to ICLs, FANCC protein undergoes monoubiquitination, which allows it to interact with other proteins involved in DNA repair and chromatin remodeling.

Defects in the FANCC protein can result in impaired DNA repair and increased sensitivity to DNA-damaging agents, leading to the characteristic features of Fanconi anemia. Additionally, mutations in the FANCC gene have been associated with an increased risk of developing acute myeloid leukemia (AML) and other cancers.

A precancerous condition, also known as a premalignant condition, is a state of abnormal cellular growth and development that has a higher-than-normal potential to progress into cancer. These conditions are characterized by the presence of certain anomalies in the cells, such as dysplasia (abnormal changes in cell shape or size), which can indicate an increased risk for malignant transformation.

It is important to note that not all precancerous conditions will eventually develop into cancer, and some may even regress on their own. However, individuals with precancerous conditions are often at a higher risk of developing cancer compared to the general population. Regular monitoring and appropriate medical interventions, if necessary, can help manage this risk and potentially prevent or detect cancer at an early stage when it is more treatable.

Examples of precancerous conditions include:

1. Dysplasia in the cervix (cervical intraepithelial neoplasia or CIN)
2. Atypical ductal hyperplasia or lobular hyperplasia in the breast
3. Actinic keratosis on the skin
4. Leukoplakia in the mouth
5. Barrett's esophagus in the digestive tract

Regular medical check-ups, screenings, and lifestyle modifications are crucial for individuals with precancerous conditions to monitor their health and reduce the risk of cancer development.

Apoptosis is a programmed and controlled cell death process that occurs in multicellular organisms. It is a natural process that helps maintain tissue homeostasis by eliminating damaged, infected, or unwanted cells. During apoptosis, the cell undergoes a series of morphological changes, including cell shrinkage, chromatin condensation, and fragmentation into membrane-bound vesicles called apoptotic bodies. These bodies are then recognized and engulfed by neighboring cells or phagocytic cells, preventing an inflammatory response. Apoptosis is regulated by a complex network of intracellular signaling pathways that involve proteins such as caspases, Bcl-2 family members, and inhibitors of apoptosis (IAPs).

Lymphocytes are a type of white blood cell that is an essential part of the immune system. They are responsible for recognizing and responding to potentially harmful substances such as viruses, bacteria, and other foreign invaders. There are two main types of lymphocytes: B-lymphocytes (B-cells) and T-lymphocytes (T-cells).

B-lymphocytes produce antibodies, which are proteins that help to neutralize or destroy foreign substances. When a B-cell encounters a foreign substance, it becomes activated and begins to divide and differentiate into plasma cells, which produce and secrete large amounts of antibodies. These antibodies bind to the foreign substance, marking it for destruction by other immune cells.

T-lymphocytes, on the other hand, are involved in cell-mediated immunity. They directly attack and destroy infected cells or cancerous cells. T-cells can also help to regulate the immune response by producing chemical signals that activate or inhibit other immune cells.

Lymphocytes are produced in the bone marrow and mature in either the bone marrow (B-cells) or the thymus gland (T-cells). They circulate throughout the body in the blood and lymphatic system, where they can be found in high concentrations in lymph nodes, the spleen, and other lymphoid organs.

Abnormalities in the number or function of lymphocytes can lead to a variety of immune-related disorders, including immunodeficiency diseases, autoimmune disorders, and cancer.

Fanconi anemia complementation group A protein (FANCA) is a protein encoded by the FANCA gene in humans. It is a part of the Fanconi anemia (FA) pathway, which is a group of proteins that play a critical role in maintaining genomic stability and preventing cancer.

The FA pathway is involved in the repair of DNA interstrand crosslinks (ICLs), which are harmful lesions that can block replication and transcription of DNA. FANCA protein, along with other FA proteins, forms a complex called the "FA core complex" that monoubiquitinates another FA protein called FANCD2. This monoubiquitination event is essential for the recruitment of downstream repair factors to damaged DNA and restoration of normal DNA structure.

Mutations in the FANCA gene can lead to Fanconi anemia, a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and increased risk of cancer. The disease is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Allelic imbalance refers to a situation in which there is an abnormal ratio of genetic material coming from each parent at a particular location in the genome. In a diploid organism like humans, most genes have two copies, one inherited from each parent. These copies are known as alleles. Normally, both alleles are expressed at equal levels.

However, in some cases, there can be a change or mutation in one of the alleles that affects its expression level relative to the other allele. This is known as allelic imbalance and can be caused by various mechanisms, including gene deletions, duplications, amplifications, or epigenetic changes that affect gene regulation.

Allelic imbalance can have important implications for understanding the genetic basis of diseases, particularly cancer. For example, if one allele of a tumor suppressor gene is deleted or mutated, the remaining functional allele may be insufficient to prevent the development of a tumor. However, if there is allelic imbalance and the remaining functional allele is overexpressed, it may compensate for the loss of the other allele and reduce the risk of tumor formation.

Therefore, detecting and quantifying allelic imbalance can provide valuable insights into the genetic mechanisms underlying various diseases and help guide diagnostic and therapeutic strategies.

Genetic recombination is the process by which genetic material is exchanged between two similar or identical molecules of DNA during meiosis, resulting in new combinations of genes on each chromosome. This exchange occurs during crossover, where segments of DNA are swapped between non-sister homologous chromatids, creating genetic diversity among the offspring. It is a crucial mechanism for generating genetic variability and facilitating evolutionary change within populations. Additionally, recombination also plays an essential role in DNA repair processes through mechanisms such as homologous recombinational repair (HRR) and non-homologous end joining (NHEJ).

Proto-oncogene proteins are normal cellular proteins that play crucial roles in various cellular processes, such as signal transduction, cell cycle regulation, and apoptosis (programmed cell death). They are involved in the regulation of cell growth, differentiation, and survival under physiological conditions.

When proto-oncogene proteins undergo mutations or aberrations in their expression levels, they can transform into oncogenic forms, leading to uncontrolled cell growth and division. These altered proteins are then referred to as oncogene products or oncoproteins. Oncogenic mutations can occur due to various factors, including genetic predisposition, environmental exposures, and aging.

Examples of proto-oncogene proteins include:

1. Ras proteins: Involved in signal transduction pathways that regulate cell growth and differentiation. Activating mutations in Ras genes are found in various human cancers.
2. Myc proteins: Regulate gene expression related to cell cycle progression, apoptosis, and metabolism. Overexpression of Myc proteins is associated with several types of cancer.
3. EGFR (Epidermal Growth Factor Receptor): A transmembrane receptor tyrosine kinase that regulates cell proliferation, survival, and differentiation. Mutations or overexpression of EGFR are linked to various malignancies, such as lung cancer and glioblastoma.
4. Src family kinases: Intracellular tyrosine kinases that regulate signal transduction pathways involved in cell proliferation, survival, and migration. Dysregulation of Src family kinases is implicated in several types of cancer.
5. Abl kinases: Cytoplasmic tyrosine kinases that regulate various cellular processes, including cell growth, differentiation, and stress responses. Aberrant activation of Abl kinases, as seen in chronic myelogenous leukemia (CML), leads to uncontrolled cell proliferation.

Understanding the roles of proto-oncogene proteins and their dysregulation in cancer development is essential for developing targeted cancer therapies that aim to inhibit or modulate these aberrant signaling pathways.

"Gene rearrangement" is a process that involves the alteration of the order, orientation, or copy number of genes or gene segments within an organism's genome. This natural mechanism plays a crucial role in generating diversity and specificity in the immune system, particularly in vertebrates.

In the context of the immune system, gene rearrangement occurs during the development of B-cells and T-cells, which are responsible for adaptive immunity. The process involves breaking and rejoining DNA segments that encode antigen recognition sites, resulting in a unique combination of gene segments and creating a vast array of possible antigen receptors.

There are two main types of gene rearrangement:

1. V(D)J recombination: This process occurs in both B-cells and T-cells. It involves the recombination of variable (V), diversity (D), and joining (J) gene segments to form a functional antigen receptor gene. In humans, there are multiple copies of V, D, and J segments for each antigen receptor gene, allowing for a vast number of possible combinations.
2. Class switch recombination: This process occurs only in mature B-cells after antigen exposure. It involves the replacement of the constant (C) region of the immunoglobulin heavy chain gene with another C region, resulting in the production of different isotypes of antibodies (IgG, IgA, or IgE) that have distinct effector functions while maintaining the same antigen specificity.

These processes contribute to the generation of a diverse repertoire of antigen receptors, allowing the immune system to recognize and respond effectively to a wide range of pathogens.

Cytokinesis is the part of the cell division process (mitosis or meiosis) in which the cytoplasm of a single eukaryotic cell divides into two daughter cells. It usually begins after telophase, and it involves the constriction of a contractile ring composed of actin filaments and myosin motor proteins that forms at the equatorial plane of the cell. This results in the formation of a cleavage furrow, which deepens and eventually leads to the physical separation of the two daughter cells. Cytokinesis is essential for cell reproduction and growth in multicellular organisms, and its failure can lead to various developmental abnormalities or diseases.

Small interfering RNA (siRNA) is a type of short, double-stranded RNA molecule that plays a role in the RNA interference (RNAi) pathway. The RNAi pathway is a natural cellular process that regulates gene expression by targeting and destroying specific messenger RNA (mRNA) molecules, thereby preventing the translation of those mRNAs into proteins.

SiRNAs are typically 20-25 base pairs in length and are generated from longer double-stranded RNA precursors called hairpin RNAs or dsRNAs by an enzyme called Dicer. Once generated, siRNAs associate with a protein complex called the RNA-induced silencing complex (RISC), which uses one strand of the siRNA (the guide strand) to recognize and bind to complementary sequences in the target mRNA. The RISC then cleaves the target mRNA, leading to its degradation and the inhibition of protein synthesis.

SiRNAs have emerged as a powerful tool for studying gene function and have shown promise as therapeutic agents for a variety of diseases, including viral infections, cancer, and genetic disorders. However, their use as therapeutics is still in the early stages of development, and there are challenges associated with delivering siRNAs to specific cells and tissues in the body.

Microtubules are hollow, cylindrical structures composed of tubulin proteins in the cytoskeleton of eukaryotic cells. They play crucial roles in various cellular processes such as maintaining cell shape, intracellular transport, and cell division (mitosis and meiosis). Microtubules are dynamic, undergoing continuous assembly and disassembly, which allows them to rapidly reorganize in response to cellular needs. They also form part of important cellular structures like centrioles, basal bodies, and cilia/flagella.

Gastrointestinal Stromal Tumors (GISTs) are rare, but potentially aggressive neoplasms that arise from the interstitial cells of Cajal or their precursors in the gastrointestinal tract. These tumors can be found anywhere along the digestive tract, including the stomach, small intestine, colon, and rectum. They are usually characterized by the presence of specific genetic mutations, most commonly involving the KIT (CD117) or PDGFRA genes. GISTs can vary in size and may present with a range of symptoms, such as abdominal pain, bleeding, or obstruction, depending on their location and size. Treatment typically involves surgical resection, and in some cases, targeted therapy with kinase inhibitors.

F-box proteins are a family of proteins that are characterized by the presence of an F-box domain, which is a motif of about 40-50 amino acids. This domain is responsible for binding to Skp1, a component of the SCF (Skp1-Cul1-F-box protein) E3 ubiquitin ligase complex. The F-box proteins serve as the substrate recognition subunit of this complex and are involved in targeting specific proteins for ubiquitination and subsequent degradation by the 26S proteasome.

There are multiple types of F-box proteins, including FBXW (also known as β-TrCP), FBXL, and FBLX, each with different substrate specificities. These proteins play important roles in various cellular processes such as cell cycle regulation, signal transduction, and DNA damage response by controlling the stability of key regulatory proteins.

Abnormal regulation of F-box proteins has been implicated in several human diseases, including cancer, developmental disorders, and neurodegenerative diseases.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Oligonucleotide Array Sequence Analysis is a type of microarray analysis that allows for the simultaneous measurement of the expression levels of thousands of genes in a single sample. In this technique, oligonucleotides (short DNA sequences) are attached to a solid support, such as a glass slide, in a specific pattern. These oligonucleotides are designed to be complementary to specific target mRNA sequences from the sample being analyzed.

During the analysis, labeled RNA or cDNA from the sample is hybridized to the oligonucleotide array. The level of hybridization is then measured and used to determine the relative abundance of each target sequence in the sample. This information can be used to identify differences in gene expression between samples, which can help researchers understand the underlying biological processes involved in various diseases or developmental stages.

It's important to note that this technique requires specialized equipment and bioinformatics tools for data analysis, as well as careful experimental design and validation to ensure accurate and reproducible results.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

A "cell line, transformed" is a type of cell culture that has undergone a stable genetic alteration, which confers the ability to grow indefinitely in vitro, outside of the organism from which it was derived. These cells have typically been immortalized through exposure to chemical or viral carcinogens, or by introducing specific oncogenes that disrupt normal cell growth regulation pathways.

Transformed cell lines are widely used in scientific research because they offer a consistent and renewable source of biological material for experimentation. They can be used to study various aspects of cell biology, including signal transduction, gene expression, drug discovery, and toxicity testing. However, it is important to note that transformed cells may not always behave identically to their normal counterparts, and results obtained using these cells should be validated in more physiologically relevant systems when possible.

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is an enzyme that plays a crucial role in the salvage pathway of nucleotide synthesis. This enzyme catalyzes the conversion of hypoxanthine and guanine to their respective nucleotides, inosine monophosphate (IMP) and guanosine monophosphate (GMP), by transferring the phosphoribosyl group from 5-phosphoribosyl-1 pyrophosphate (PRPP) to the purine bases.

HGPRT deficiency is a genetic disorder known as Lesch-Nyhan syndrome, which is characterized by mental retardation, self-mutilation, spasticity, and uric acid overproduction due to the accumulation of hypoxanthine and guanine. This disorder is caused by mutations in the HPRT1 gene, leading to a decrease or absence of HGPRT enzyme activity.

BALB/c is an inbred strain of laboratory mouse that is widely used in biomedical research. The strain was developed at the Institute of Cancer Research in London by Henry Baldwin and his colleagues in the 1920s, and it has since become one of the most commonly used inbred strains in the world.

BALB/c mice are characterized by their black coat color, which is determined by a recessive allele at the tyrosinase locus. They are also known for their docile and friendly temperament, making them easy to handle and work with in the laboratory.

One of the key features of BALB/c mice that makes them useful for research is their susceptibility to certain types of tumors and immune responses. For example, they are highly susceptible to developing mammary tumors, which can be induced by chemical carcinogens or viral infection. They also have a strong Th2-biased immune response, which makes them useful models for studying allergic diseases and asthma.

BALB/c mice are also commonly used in studies of genetics, neuroscience, behavior, and infectious diseases. Because they are an inbred strain, they have a uniform genetic background, which makes it easier to control for genetic factors in experiments. Additionally, because they have been bred in the laboratory for many generations, they are highly standardized and reproducible, making them ideal subjects for scientific research.

CpG islands are defined as short stretches of DNA that are characterized by a higher than expected frequency of CpG dinucleotides. A dinucleotide is a pair of adjacent nucleotides, and in the case of CpG, C represents cytosine and G represents guanine. These islands are typically found in the promoter regions of genes, where they play important roles in regulating gene expression.

Under normal circumstances, the cytosine residue in a CpG dinucleotide is often methylated, meaning that a methyl group (-CH3) is added to the cytosine base. However, in CpG islands, methylation is usually avoided, and these regions tend to be unmethylated. This has important implications for gene expression because methylation of CpG dinucleotides in promoter regions can lead to the silencing of genes.

CpG islands are also often targets for transcription factors, which bind to specific DNA sequences and help regulate gene expression. The unmethylated state of CpG islands is thought to be important for maintaining the accessibility of these regions to transcription factors and other regulatory proteins.

Abnormal methylation patterns in CpG islands have been associated with various diseases, including cancer. In many cancers, CpG islands become aberrantly methylated, leading to the silencing of tumor suppressor genes and contributing to the development and progression of the disease.

"Nude mice" is a term used in the field of laboratory research to describe a strain of mice that have been genetically engineered to lack a functional immune system. Specifically, nude mice lack a thymus gland and have a mutation in the FOXN1 gene, which results in a failure to develop a mature T-cell population. This means that they are unable to mount an effective immune response against foreign substances or organisms.

The name "nude" refers to the fact that these mice also have a lack of functional hair follicles, resulting in a hairless or partially hairless phenotype. This feature is actually a secondary consequence of the same genetic mutation that causes their immune deficiency.

Nude mice are commonly used in research because their weakened immune system makes them an ideal host for transplanted tumors, tissues, and cells from other species, including humans. This allows researchers to study the behavior of these foreign substances in a living organism without the complication of an immune response. However, it's important to note that because nude mice lack a functional immune system, they must be kept in sterile conditions and are more susceptible to infection than normal mice.

A xenograft model antitumor assay is a type of preclinical cancer research study that involves transplanting human tumor cells or tissues into an immunodeficient mouse. This model allows researchers to study the effects of various treatments, such as drugs or immune therapies, on human tumors in a living organism.

In this assay, human tumor cells or tissues are implanted into the mouse, typically under the skin or in another organ, where they grow and form a tumor. Once the tumor has established, the mouse is treated with the experimental therapy, and the tumor's growth is monitored over time. The response of the tumor to the treatment is then assessed by measuring changes in tumor size or weight, as well as other parameters such as survival rate and metastasis.

Xenograft model antitumor assays are useful for evaluating the efficacy and safety of new cancer therapies before they are tested in human clinical trials. They provide valuable information on how the tumors respond to treatment, drug pharmacokinetics, and toxicity, which can help researchers optimize dosing regimens and identify potential side effects. However, it is important to note that xenograft models have limitations, such as differences in tumor biology between mice and humans, and may not always predict how well a therapy will work in human patients.

Cellular aging, also known as cellular senescence, is a natural process that occurs as cells divide and grow older. Over time, cells accumulate damage to their DNA, proteins, and lipids due to various factors such as genetic mutations, oxidative stress, and epigenetic changes. This damage can impair the cell's ability to function properly and can lead to changes associated with aging, such as decreased tissue repair and regeneration, increased inflammation, and increased risk of age-related diseases.

Cellular aging is characterized by several features, including:

1. Shortened telomeres: Telomeres are the protective caps on the ends of chromosomes that shorten each time a cell divides. When telomeres become too short, the cell can no longer divide and becomes senescent or dies.
2. Epigenetic changes: Epigenetic modifications refer to chemical changes to DNA and histone proteins that affect gene expression without changing the underlying genetic code. As cells age, they accumulate epigenetic changes that can alter gene expression and contribute to cellular aging.
3. Oxidative stress: Reactive oxygen species (ROS) are byproducts of cellular metabolism that can damage DNA, proteins, and lipids. Accumulated ROS over time can lead to oxidative stress, which is associated with cellular aging.
4. Inflammation: Senescent cells produce pro-inflammatory cytokines, chemokines, and matrix metalloproteinases that contribute to a low-grade inflammation known as inflammaging. This chronic inflammation can lead to tissue damage and increase the risk of age-related diseases.
5. Genomic instability: DNA damage accumulates with age, leading to genomic instability and an increased risk of mutations and cancer.

Understanding cellular aging is crucial for developing interventions that can delay or prevent age-related diseases and improve healthy lifespan.

Adaptor proteins are a type of protein that play a crucial role in intracellular signaling pathways by serving as a link between different components of the signaling complex. Specifically, "signal transducing adaptor proteins" refer to those adaptor proteins that are involved in signal transduction processes, where they help to transmit signals from the cell surface receptors to various intracellular effectors. These proteins typically contain modular domains that allow them to interact with multiple partners, thereby facilitating the formation of large signaling complexes and enabling the integration of signals from different pathways.

Signal transducing adaptor proteins can be classified into several families based on their structural features, including the Src homology 2 (SH2) domain, the Src homology 3 (SH3) domain, and the phosphotyrosine-binding (PTB) domain. These domains enable the adaptor proteins to recognize and bind to specific motifs on other signaling molecules, such as receptor tyrosine kinases, G protein-coupled receptors, and cytokine receptors.

One well-known example of a signal transducing adaptor protein is the growth factor receptor-bound protein 2 (Grb2), which contains an SH2 domain that binds to phosphotyrosine residues on activated receptor tyrosine kinases. Grb2 also contains an SH3 domain that interacts with proline-rich motifs on other signaling proteins, such as the guanine nucleotide exchange factor SOS. This interaction facilitates the activation of the Ras small GTPase and downstream signaling pathways involved in cell growth, differentiation, and survival.

Overall, signal transducing adaptor proteins play a critical role in regulating various cellular processes by modulating intracellular signaling pathways in response to extracellular stimuli. Dysregulation of these proteins has been implicated in various diseases, including cancer and inflammatory disorders.

Rad51 recombinase is a protein involved in the repair of double-stranded DNA breaks through homologous recombination, a process that helps maintain genomic stability. This protein forms a nucleoprotein filament on single-stranded DNA, facilitating the search for and invasion of homologous sequences in double-stranded DNA. Rad51 recombinase is highly conserved across various species, including humans, and plays a crucial role in preventing genetic disorders, cancer, and aging caused by DNA damage.

The Mitotic Index (MI) is a measure of cell proliferation that reflects the percentage of cells in a population or sample that are undergoing mitosis, which is the process of cell division. It is often expressed as the number of mitotic figures (dividing cells) per 100 or 1,000 cells counted in a microscopic field. The Mitotic Index is used in various fields, including pathology and research, to assess the growth fraction of cells in tissues or cultures, and to monitor the effects of treatments that affect cell division, such as chemotherapy or radiation therapy.

Fanconi anemia complementation group F protein (FA-F) is a protein that is encoded by the FANCF gene in humans. It is a part of the Fanconi anemia (FA) pathway, which is a DNA damage response pathway that helps to protect genomic stability.

The FA pathway is involved in the repair of interstrand crosslinks (ICLs), which are a type of DNA damage that can cause genetic instability and lead to cancer. The FA-F protein is part of the E3 ubiquitin ligase complex, which includes FANCL, FANCB, and FANCC proteins, that ubiquitinate and degrade the FANCD2-FANCI heterodimer at ICLs.

Mutations in the FANCF gene can lead to Fanconi anemia, a rare genetic disorder characterized by congenital abnormalities, bone marrow failure, and increased risk of cancer. The FA-F protein is essential for the normal function of the FA pathway, and its dysfunction can result in genomic instability and predisposition to malignancy.

DNA helicases are a group of enzymes that are responsible for separating the two strands of DNA during processes such as replication and transcription. They do this by unwinding the double helix structure of DNA, using energy from ATP to break the hydrogen bonds between the base pairs. This allows other proteins to access the individual strands of DNA and carry out functions such as copying the genetic code or transcribing it into RNA.

During replication, DNA helicases help to create a replication fork, where the two strands of DNA are separated and new complementary strands are synthesized. In transcription, DNA helicases help to unwind the DNA double helix at the promoter region, allowing the RNA polymerase enzyme to bind and begin transcribing the DNA into RNA.

DNA helicases play a crucial role in maintaining the integrity of the genetic code and are essential for the normal functioning of cells. Defects in DNA helicases have been linked to various diseases, including cancer and neurological disorders.

Cricetinae is a subfamily of rodents that includes hamsters, gerbils, and relatives. These small mammals are characterized by having short limbs, compact bodies, and cheek pouches for storing food. They are native to various parts of the world, particularly in Europe, Asia, and Africa. Some species are popular pets due to their small size, easy care, and friendly nature. In a medical context, understanding the biology and behavior of Cricetinae species can be important for individuals who keep them as pets or for researchers studying their physiology.

Gamma rays are a type of ionizing radiation that is released from the nucleus of an atom during radioactive decay. They are high-energy photons, with wavelengths shorter than 0.01 nanometers and frequencies greater than 3 x 10^19 Hz. Gamma rays are electromagnetic radiation, similar to X-rays, but with higher energy levels and the ability to penetrate matter more deeply. They can cause damage to living tissue and are used in medical imaging and cancer treatment.

Neoplasm antigens, also known as tumor antigens, are substances that are produced by cancer cells (neoplasms) and can stimulate an immune response. These antigens can be proteins, carbohydrates, or other molecules that are either unique to the cancer cells or are overexpressed or mutated versions of normal cellular proteins.

Neoplasm antigens can be classified into two main categories: tumor-specific antigens (TSAs) and tumor-associated antigens (TAAs). TSAs are unique to cancer cells and are not expressed by normal cells, while TAAs are present at low levels in normal cells but are overexpressed or altered in cancer cells.

TSAs can be further divided into viral antigens and mutated antigens. Viral antigens are produced when cancer is caused by a virus, such as human papillomavirus (HPV) in cervical cancer. Mutated antigens are the result of genetic mutations that occur during cancer development and are unique to each patient's tumor.

Neoplasm antigens play an important role in the immune response against cancer. They can be recognized by the immune system, leading to the activation of immune cells such as T cells and natural killer (NK) cells, which can then attack and destroy cancer cells. However, cancer cells often develop mechanisms to evade the immune response, allowing them to continue growing and spreading.

Understanding neoplasm antigens is important for the development of cancer immunotherapies, which aim to enhance the body's natural immune response against cancer. These therapies include checkpoint inhibitors, which block proteins that inhibit T cell activation, and therapeutic vaccines, which stimulate an immune response against specific tumor antigens.

Carcinogens are agents (substances or mixtures of substances) that can cause cancer. They may be naturally occurring or man-made. Carcinogens can increase the risk of cancer by altering cellular DNA, disrupting cellular function, or promoting cell growth. Examples of carcinogens include certain chemicals found in tobacco smoke, asbestos, UV radiation from the sun, and some viruses.

It's important to note that not all exposures to carcinogens will result in cancer, and the risk typically depends on factors such as the level and duration of exposure, individual genetic susceptibility, and lifestyle choices. The International Agency for Research on Cancer (IARC) classifies carcinogens into different groups based on the strength of evidence linking them to cancer:

Group 1: Carcinogenic to humans
Group 2A: Probably carcinogenic to humans
Group 2B: Possibly carcinogenic to humans
Group 3: Not classifiable as to its carcinogenicity to humans
Group 4: Probably not carcinogenic to humans

This information is based on medical research and may be subject to change as new studies become available. Always consult a healthcare professional for medical advice.

DNA repair enzymes are a group of enzymes that are responsible for identifying and correcting damage to the DNA molecule. These enzymes play a critical role in maintaining the integrity of an organism's genetic material, as they help to ensure that the information stored in DNA is accurately transmitted during cell division and reproduction.

There are several different types of DNA repair enzymes, each responsible for correcting specific types of damage. For example, base excision repair enzymes remove and replace damaged or incorrect bases, while nucleotide excision repair enzymes remove larger sections of damaged DNA and replace them with new nucleotides. Other types of DNA repair enzymes include mismatch repair enzymes, which correct errors that occur during DNA replication, and double-strand break repair enzymes, which are responsible for fixing breaks in both strands of the DNA molecule.

Defects in DNA repair enzymes have been linked to a variety of diseases, including cancer, neurological disorders, and premature aging. For example, individuals with xeroderma pigmentosum, a rare genetic disorder characterized by an increased risk of skin cancer, have mutations in genes that encode nucleotide excision repair enzymes. Similarly, defects in mismatch repair enzymes have been linked to hereditary nonpolyposis colorectal cancer, a type of colon cancer that is inherited and tends to occur at a younger age than sporadic colon cancer.

Overall, DNA repair enzymes play a critical role in maintaining the stability and integrity of an organism's genetic material, and defects in these enzymes can have serious consequences for human health.

Ovarian neoplasms refer to abnormal growths or tumors in the ovary, which can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various cell types within the ovary, including epithelial cells, germ cells, and stromal cells. Ovarian neoplasms are often classified based on their cell type of origin, histological features, and potential for invasive or metastatic behavior.

Epithelial ovarian neoplasms are the most common type and can be further categorized into several subtypes, such as serous, mucinous, endometrioid, clear cell, and Brenner tumors. Some of these epithelial tumors have a higher risk of becoming malignant and spreading to other parts of the body.

Germ cell ovarian neoplasms arise from the cells that give rise to eggs (oocytes) and can include teratomas, dysgerminomas, yolk sac tumors, and embryonal carcinomas. Stromal ovarian neoplasms develop from the connective tissue cells supporting the ovary and can include granulosa cell tumors, thecomas, and fibromas.

It is essential to diagnose and treat ovarian neoplasms promptly, as some malignant forms can be aggressive and potentially life-threatening if not managed appropriately. Regular gynecological exams, imaging studies, and tumor marker tests are often used for early detection and monitoring of ovarian neoplasms. Treatment options may include surgery, chemotherapy, or radiation therapy, depending on the type, stage, and patient's overall health condition.

Cell growth processes refer to the series of events that occur within a cell leading to an increase in its size, mass, and number of organelles. These processes are essential for the development, maintenance, and reproduction of all living organisms. The main cell growth processes include:

1. Cell Cycle: It is the sequence of events that a eukaryotic cell goes through from one cell division (mitosis) to the next. The cell cycle consists of four distinct phases: G1 phase (growth and preparation for DNA replication), S phase (DNA synthesis), G2 phase (preparation for mitosis), and M phase (mitosis or meiosis).

2. DNA Replication: It is the process by which a cell makes an identical copy of its DNA molecule before cell division. This ensures that each daughter cell receives an exact replica of the parent cell's genetic material.

3. Protein Synthesis: Cells grow by increasing their protein content, which is achieved through the process of protein synthesis. This involves transcribing DNA into mRNA (transcription) and then translating that mRNA into a specific protein sequence (translation).

4. Cellular Metabolism: It refers to the sum total of all chemical reactions that occur within a cell to maintain life. These reactions include catabolic processes, which break down nutrients to release energy, and anabolic processes, which use energy to build complex molecules like proteins, lipids, and carbohydrates.

5. Cell Signaling: Cells communicate with each other through intricate signaling pathways that help coordinate growth, differentiation, and survival. These signals can come from within the cell (intracellular) or from outside the cell (extracellular).

6. Cell Division: Also known as mitosis, it is the process by which a single cell divides into two identical daughter cells. This ensures that each new cell contains an exact copy of the parent cell's genetic material and allows for growth and repair of tissues.

7. Apoptosis: It is a programmed cell death process that helps maintain tissue homeostasis by eliminating damaged or unnecessary cells. Dysregulation of apoptosis can lead to diseases such as cancer and autoimmune disorders.

Nocodazole is not a medical condition or disease, but rather a pharmacological agent used in medical research and clinical settings. It's a synthetic chemical compound that belongs to the class of drugs known as microtubule inhibitors. Nocodazole works by binding to and disrupting the dynamic assembly and disassembly of microtubules, which are important components of the cell's cytoskeleton and play a critical role in cell division.

Nocodazole is primarily used in research settings as a tool for studying cell biology and mitosis, the process by which cells divide. It can be used to synchronize cells in the cell cycle or to induce mitotic arrest, making it useful for investigating various aspects of cell division and chromosome behavior.

In clinical settings, nocodazole has been used off-label as a component of some cancer treatment regimens, particularly in combination with other chemotherapeutic agents. Its ability to disrupt microtubules can interfere with the proliferation of cancer cells and enhance the effectiveness of certain anti-cancer drugs. However, its use is not widespread due to potential side effects and the availability of alternative treatments.

Tetraploidy is a genetic condition where an individual has four sets of chromosomes in their cells instead of the typical two sets (two from each parent). This means that the person has twice the normal number of chromosomes, resulting in a total of 92 chromosomes compared to the usual 46.

Tetraploidy can occur as a result of errors during cell division, such as during fertilization when two sperm fertilize a single egg, or during mitosis when an abnormal number of chromosomes are distributed unevenly between two daughter cells.

Tetraploidy is often associated with developmental delays, intellectual disability, physical abnormalities, and increased risk of certain medical conditions. However, the severity of symptoms can vary widely depending on the specific genetic makeup of the individual and the degree to which the extra chromosomes are present in different cells throughout the body.

It is important to note that tetraploidy is a rare condition, and its diagnosis typically requires specialized genetic testing and evaluation by medical professionals with expertise in genetics and developmental disorders.

Gonadal disorders refer to conditions that affect the function or structure of the gonads, which are the primary reproductive organs. In females, the gonads are the ovaries, and in males, they are the testes. These disorders can result in issues related to sexual development, reproduction, and hormone production.

Examples of gonadal disorders include:

1. Ovarian dysfunction: This includes conditions such as polycystic ovary syndrome (PCOS), premature ovarian failure, and ovarian insufficiency, which can affect menstruation, fertility, and hormone levels.
2. Testicular disorders: These include conditions such as undescended testes, Klinefelter syndrome, and varicocele, which can impact sperm production, male secondary sexual characteristics, and hormone levels.
3. Gonadal dysgenesis: This is a condition where the gonads do not develop properly during fetal development, leading to ambiguous genitalia or sex chromosome abnormalities.
4. Cancer of the gonads: Both ovarian and testicular cancers can affect gonadal function and require prompt medical attention.
5. Gonadal injury or trauma: Injuries to the gonads can impact their function, leading to fertility issues or hormonal imbalances.

Treatment for gonadal disorders depends on the specific condition and its severity. It may involve medications, surgery, hormone replacement therapy, or assisted reproductive technologies.

I'm sorry for any confusion, but "hybrid cells" is not a standard medical term with a widely accepted or specific definition in the field of medicine. The term "hybrid" is used in various scientific and medical contexts to describe combinations or mixtures of different elements, such as hybridoma cells (a type of fusion cell used in research, created by combining a B cell and a tumor cell) or hybridization (in genetics, the process of combining DNA from two different sources).

Without more specific context, it's difficult to provide an accurate medical definition for "hybrid cells." If you could provide more information about the context in which this term was used, I would be happy to help you further!

The cell nucleus is a membrane-bound organelle found in the eukaryotic cells (cells with a true nucleus). It contains most of the cell's genetic material, organized as DNA molecules in complex with proteins, RNA molecules, and histones to form chromosomes.

The primary function of the cell nucleus is to regulate and control the activities of the cell, including growth, metabolism, protein synthesis, and reproduction. It also plays a crucial role in the process of mitosis (cell division) by separating and protecting the genetic material during this process. The nuclear membrane, or nuclear envelope, surrounding the nucleus is composed of two lipid bilayers with numerous pores that allow for the selective transport of molecules between the nucleoplasm (nucleus interior) and the cytoplasm (cell exterior).

The cell nucleus is a vital structure in eukaryotic cells, and its dysfunction can lead to various diseases, including cancer and genetic disorders.

Human chromosome pair 20 is one of the 23 pairs of human chromosomes present in every cell of the body, except for the sperm and egg cells which contain only 23 individual chromosomes. Chromosomes are thread-like structures that carry genetic information in the form of genes.

Human chromosome pair 20 is an acrocentric chromosome, meaning it has a short arm (p arm) and a long arm (q arm), with the centromere located near the junction of the two arms. The short arm of chromosome 20 is very small and contains few genes, while the long arm contains several hundred genes that play important roles in various biological processes.

Chromosome pair 20 is associated with several genetic disorders, including DiGeorge syndrome, which is caused by a deletion of a portion of the long arm of chromosome 20. This syndrome is characterized by birth defects affecting the heart, face, and immune system. Other conditions associated with abnormalities of chromosome pair 20 include some forms of intellectual disability, autism spectrum disorder, and cancer.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Hepatocellular carcinoma (HCC) is the most common type of primary liver cancer in adults. It originates from the hepatocytes, which are the main functional cells of the liver. This type of cancer is often associated with chronic liver diseases such as cirrhosis caused by hepatitis B or C virus infection, alcohol abuse, non-alcoholic fatty liver disease (NAFLD), and aflatoxin exposure.

The symptoms of HCC can vary but may include unexplained weight loss, lack of appetite, abdominal pain or swelling, jaundice, and fatigue. The diagnosis of HCC typically involves imaging tests such as ultrasound, CT scan, or MRI, as well as blood tests to measure alpha-fetoprotein (AFP) levels. Treatment options for Hepatocellular carcinoma depend on the stage and extent of the cancer, as well as the patient's overall health and liver function. Treatment options may include surgery, radiation therapy, chemotherapy, targeted therapy, or liver transplantation.

Gene silencing is a process by which the expression of a gene is blocked or inhibited, preventing the production of its corresponding protein. This can occur naturally through various mechanisms such as RNA interference (RNAi), where small RNAs bind to and degrade specific mRNAs, or DNA methylation, where methyl groups are added to the DNA molecule, preventing transcription. Gene silencing can also be induced artificially using techniques such as RNAi-based therapies, antisense oligonucleotides, or CRISPR-Cas9 systems, which allow for targeted suppression of gene expression in research and therapeutic applications.

Fibrosarcoma is a type of soft tissue cancer that develops in the fibrous (or connective) tissue found throughout the body, including tendons, ligaments, and muscles. It is characterized by the malignant proliferation of fibroblasts, which are the cells responsible for producing collagen, a structural protein found in connective tissue.

The tumor typically presents as a painless, firm mass that grows slowly over time. Fibrosarcomas can occur at any age but are more common in adults between 30 and 60 years old. The exact cause of fibrosarcoma is not well understood, but it has been linked to radiation exposure, certain chemicals, and genetic factors.

There are several subtypes of fibrosarcoma, including adult-type fibrosarcoma, infantile fibrosarcoma, and dedifferentiated fibrosarcoma. Treatment usually involves surgical removal of the tumor, often followed by radiation therapy and/or chemotherapy to reduce the risk of recurrence. The prognosis for patients with fibrosarcoma depends on several factors, including the size and location of the tumor, the patient's age and overall health, and the presence or absence of metastasis (spread of cancer to other parts of the body).

Nuclear antigens are proteins or other molecules found in the nucleus of a cell that can stimulate an immune response and produce antibodies when they are recognized as foreign by the body's immune system. These antigens are normally located inside the cell and are not typically exposed to the immune system, but under certain circumstances, such as during cell death or damage, they may be released and become targets of the immune system.

Nuclear antigens can play a role in the development of some autoimmune diseases, such as systemic lupus erythematosus (SLE), where the body's immune system mistakenly attacks its own cells and tissues. In SLE, nuclear antigens such as double-stranded DNA and nucleoproteins are common targets of the abnormal immune response.

Testing for nuclear antigens is often used in the diagnosis and monitoring of autoimmune diseases. For example, a positive test for anti-double-stranded DNA antibodies is a specific indicator of SLE and can help confirm the diagnosis. However, it's important to note that not all people with SLE will have positive nuclear antigen tests, and other factors must also be considered in making a diagnosis.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

The "bystander effect" is a social psychological phenomenon in which the presence of other people discourages an individual from intervening in an emergency situation. It is also known as bystander apathy or Genovese syndrome. This effect was named after the infamous murder of Kitty Genovese in 1964, where it was reported that dozens of witnesses heard her screams for help but did not call the police or intervene.

The bystander effect is thought to occur because individuals in a group may assume that someone else will take action, or they may feel uncertain about how to respond and hesitant to get involved. Additionally, the presence of other people can dilute an individual's sense of personal responsibility for taking action. The bystander effect has been demonstrated in numerous experiments and real-world situations, and it highlights the importance of encouraging individuals to take action and intervene in emergency situations, even when others are present.

Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.

Skin neoplasms refer to abnormal growths or tumors in the skin that can be benign (non-cancerous) or malignant (cancerous). They result from uncontrolled multiplication of skin cells, which can form various types of lesions. These growths may appear as lumps, bumps, sores, patches, or discolored areas on the skin.

Benign skin neoplasms include conditions such as moles, warts, and seborrheic keratoses, while malignant skin neoplasms are primarily classified into melanoma, squamous cell carcinoma, and basal cell carcinoma. These three types of cancerous skin growths are collectively known as non-melanoma skin cancers (NMSCs). Melanoma is the most aggressive and dangerous form of skin cancer, while NMSCs tend to be less invasive but more common.

It's essential to monitor any changes in existing skin lesions or the appearance of new growths and consult a healthcare professional for proper evaluation and treatment if needed.

Gonadal dysgenesis, 46,XX is a medical condition where an individual with a 46,XX karyotype has underdeveloped or absent gonads (ovaries). Normally, individuals with a 46,XX karyotype have ovaries that produce female sex hormones and develop into reproductive organs. However, in cases of gonadal dysgenesis, the gonads do not develop properly and may appear as streak gonads, which lack germ cells and are incapable of producing sex hormones or gametes (eggs).

Individuals with 46,XX gonadal dysgenesis often have female external genitalia but may have primary amenorrhea (absence of menstruation) due to the underdeveloped or absent ovaries. They may also have other features such as short stature, webbed neck, and intellectual disability, depending on the underlying cause of the condition.

The underlying causes of 46,XX gonadal dysgenesis can vary, including genetic mutations, chromosomal abnormalities, or exposure to environmental factors during fetal development. Some individuals with this condition may have an increased risk of developing gonadal tumors, so regular monitoring and follow-up care are essential.

APC (Adenomatous Polyposis Coli) gene is a tumor suppressor gene that provides instructions for making a protein called adenomatous polyposis coli. This protein plays a crucial role in regulating the growth and division of cells in the colon and rectum. Specifically, it helps to maintain the stability of the cell's genetic material (DNA) by controlling the process of beta-catenin degradation.

When the APC gene is mutated or altered, it can lead to an accumulation of beta-catenin in the cell, which can result in uncontrolled cell growth and division. This can ultimately lead to the development of colon polyps, which are benign growths that can become cancerous over time if left untreated.

Mutations in the APC gene are associated with several inherited cancer syndromes, including familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). These conditions are characterized by the development of numerous colon polyps at a young age, which can increase the risk of developing colorectal cancer.

Kidney neoplasms refer to abnormal growths or tumors in the kidney tissues that can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various types of kidney cells, including the renal tubules, glomeruli, and the renal pelvis.

Malignant kidney neoplasms are also known as kidney cancers, with renal cell carcinoma being the most common type. Benign kidney neoplasms include renal adenomas, oncocytomas, and angiomyolipomas. While benign neoplasms are generally not life-threatening, they can still cause problems if they grow large enough to compromise kidney function or if they undergo malignant transformation.

Early detection and appropriate management of kidney neoplasms are crucial for improving patient outcomes and overall prognosis. Regular medical check-ups, imaging studies, and urinalysis can help in the early identification of these growths, allowing for timely intervention and treatment.

Down-regulation is a process that occurs in response to various stimuli, where the number or sensitivity of cell surface receptors or the expression of specific genes is decreased. This process helps maintain homeostasis within cells and tissues by reducing the ability of cells to respond to certain signals or molecules.

In the context of cell surface receptors, down-regulation can occur through several mechanisms:

1. Receptor internalization: After binding to their ligands, receptors can be internalized into the cell through endocytosis. Once inside the cell, these receptors may be degraded or recycled back to the cell surface in smaller numbers.
2. Reduced receptor synthesis: Down-regulation can also occur at the transcriptional level, where the expression of genes encoding for specific receptors is decreased, leading to fewer receptors being produced.
3. Receptor desensitization: Prolonged exposure to a ligand can lead to a decrease in receptor sensitivity or affinity, making it more difficult for the cell to respond to the signal.

In the context of gene expression, down-regulation refers to the decreased transcription and/or stability of specific mRNAs, leading to reduced protein levels. This process can be induced by various factors, including microRNA (miRNA)-mediated regulation, histone modification, or DNA methylation.

Down-regulation is an essential mechanism in many physiological processes and can also contribute to the development of several diseases, such as cancer and neurodegenerative disorders.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

MutS Homolog 2 (MSH2) Protein is a type of protein involved in the DNA repair process in cells. It is a member of the MutS family of proteins, which are responsible for identifying and correcting mistakes that occur during DNA replication. MSH2 forms a complex with another MutS homolog, MSH6, and this complex plays a crucial role in recognizing and binding to mismatched base pairs in the DNA. Once bound, the complex recruits other proteins to repair the damage and restore the integrity of the DNA. Defects in the MSH2 gene have been linked to an increased risk of certain types of cancer, including hereditary non-polyposis colorectal cancer (HNPCC) and uterine cancer.

A gene is the basic unit of heredity in living organisms. It is a segment of DNA (deoxyribonucleic acid) that contains the instructions for the development and function of an organism. Genes are passed down from parents to offspring and determine many of an individual's traits, such as eye color and height.

A neoplasm, on the other hand, is a term used to describe an abnormal growth of cells, also known as a tumor. Neoplasms can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are generally not harmful and do not spread to other parts of the body. Malignant neoplasms, however, can invade and destroy nearby tissues and organs, and may also metastasize (spread) to other parts of the body.

In some cases, genetic mutations can lead to the development of neoplasms. These genetic changes can be inherited from parents or can occur spontaneously during a person's lifetime. Some genes are known to play a role in the development of certain types of cancer. For example, mutations in the BRCA1 and BRCA2 genes can increase a person's risk of developing breast and ovarian cancer.

It is important to note that not all neoplasms are caused by genetic mutations. Other factors, such as exposure to certain chemicals or viruses, can also contribute to the development of neoplasms.

Adenomatous polyposis coli (APC) protein is a tumor suppressor protein that plays a crucial role in regulating cell growth and division. It is encoded by the APC gene, which is located on chromosome 5. The APC protein helps to prevent excessive cell growth and division by inhibiting the activity of a protein called beta-catenin, which promotes cell growth and division when activated.

In individuals with certain genetic disorders, such as familial adenomatous polyposis (FAP), mutations in the APC gene can lead to the production of a defective APC protein or no APC protein at all. This can result in uncontrolled cell growth and division, leading to the development of numerous benign tumors called polyps in the colon and rectum. Over time, some of these polyps may become cancerous, leading to colorectal cancer if left untreated.

APC protein also has other functions in the body, including regulating cell migration and adhesion, and playing a role in maintaining the stability of the cytoskeleton. Mutations in the APC gene have been linked to other types of cancer besides colorectal cancer, including breast, lung, and ovarian cancers.

Oncogenes are genes that have the potential to cause cancer. They can do this by promoting cell growth and division (cellular proliferation), preventing cell death (apoptosis), or enabling cells to invade surrounding tissue and spread to other parts of the body (metastasis). Oncogenes can be formed when normal genes, called proto-oncogenes, are mutated or altered in some way. This can happen as a result of exposure to certain chemicals or radiation, or through inherited genetic mutations. When activated, oncogenes can contribute to the development of cancer by causing cells to divide and grow in an uncontrolled manner.

HCT116 cells are a type of human colon cancer cell line that is widely used in scientific research. They were originally established in the early 1980s from a primary colon tumor that had metastasized to the liver. HCT116 cells are known for their stability, robust growth, and susceptibility to various genetic manipulations, making them a popular choice for studying cancer biology, drug discovery, and gene function.

These cells have several important features that make them useful in research. For example, they harbor mutations in key genes involved in colorectal cancer development, such as the adenomatous polyposis coli (APC) gene and the KRAS oncogene. Additionally, HCT116 cells can be easily cultured in the lab and are amenable to a variety of experimental techniques, including genetic modification, drug screening, and protein analysis.

It is important to note that while HCT116 cells provide valuable insights into colon cancer biology, they represent only one type of cancer cell line, and their behavior may not necessarily reflect the complexity of human tumors in vivo. Therefore, researchers must exercise caution when interpreting results obtained from these cells and consider other complementary approaches to validate their findings.

I'm sorry for any confusion, but "Carcinoma, Ehrlich Tumor" is not a recognized medical term or a valid medical definition. The term "Ehrlich tumor" is sometimes used to refer to a type of transplantable tumor that was first developed by the German physician Paul Ehrlich in the early 20th century for cancer research purposes. However, it's important to note that this type of tumor is not a naturally occurring cancer and is typically used only in laboratory experiments.

Carcinoma, on the other hand, is a medical term that refers to a type of cancer that starts in cells that line the inner or outer surfaces of organs. Carcinomas can develop in various parts of the body, including the lungs, breasts, colon, and skin.

If you have any specific questions about cancer or a particular medical condition, I would be happy to try to help answer them for you.

Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence. These changes can be caused by various mechanisms such as DNA methylation, histone modification, and non-coding RNA molecules. Epigenetic changes can be influenced by various factors including age, environment, lifestyle, and disease state.

Genetic epigenesis specifically refers to the study of how genetic factors influence these epigenetic modifications. Genetic variations between individuals can lead to differences in epigenetic patterns, which in turn can contribute to phenotypic variation and susceptibility to diseases. For example, certain genetic variants may predispose an individual to develop cancer, and environmental factors such as smoking or exposure to chemicals can interact with these genetic variants to trigger epigenetic changes that promote tumor growth.

Overall, the field of genetic epigenesis aims to understand how genetic and environmental factors interact to regulate gene expression and contribute to disease susceptibility.

HeLa cells are a type of immortalized cell line used in scientific research. They are derived from a cancer that developed in the cervical tissue of Henrietta Lacks, an African-American woman, in 1951. After her death, cells taken from her tumor were found to be capable of continuous division and growth in a laboratory setting, making them an invaluable resource for medical research.

HeLa cells have been used in a wide range of scientific studies, including research on cancer, viruses, genetics, and drug development. They were the first human cell line to be successfully cloned and are able to grow rapidly in culture, doubling their population every 20-24 hours. This has made them an essential tool for many areas of biomedical research.

It is important to note that while HeLa cells have been instrumental in numerous scientific breakthroughs, the story of their origin raises ethical questions about informed consent and the use of human tissue in research.

BRCA2 (pronounced "braca two") protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA in cells. It is encoded by the BRCA2 gene, which is located on chromosome 13. Mutations in the BRCA2 gene have been associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancer in women, and breast and prostate cancer in men.

The BRCA2 protein interacts with other proteins to repair double-strand breaks in DNA through a process called homologous recombination. When the BRCA2 protein is not functioning properly due to a mutation, damaged DNA may not be repaired correctly, leading to genetic instability and an increased risk of cancer.

It's important to note that not all people with BRCA2 mutations will develop cancer, but their risk is higher than those without the mutation. Genetic testing can identify individuals who have inherited a mutation in the BRCA2 gene and help guide medical management and screening recommendations.

A glioma is a type of tumor that originates from the glial cells in the brain. Glial cells are non-neuronal cells that provide support and protection for nerve cells (neurons) within the central nervous system, including providing nutrients, maintaining homeostasis, and insulating neurons.

Gliomas can be classified into several types based on the specific type of glial cell from which they originate. The most common types include:

1. Astrocytoma: Arises from astrocytes, a type of star-shaped glial cells that provide structural support to neurons.
2. Oligodendroglioma: Develops from oligodendrocytes, which produce the myelin sheath that insulates nerve fibers.
3. Ependymoma: Originate from ependymal cells, which line the ventricles (fluid-filled spaces) in the brain and spinal cord.
4. Glioblastoma multiforme (GBM): A highly aggressive and malignant type of astrocytoma that tends to spread quickly within the brain.

Gliomas can be further classified based on their grade, which indicates how aggressive and fast-growing they are. Lower-grade gliomas tend to grow more slowly and may be less aggressive, while higher-grade gliomas are more likely to be aggressive and rapidly growing.

Symptoms of gliomas depend on the location and size of the tumor but can include headaches, seizures, cognitive changes, and neurological deficits such as weakness or paralysis in certain parts of the body. Treatment options for gliomas may include surgery, radiation therapy, chemotherapy, or a combination of these approaches.

'Tumor cells, cultured' refers to the process of removing cancerous cells from a tumor and growing them in controlled laboratory conditions. This is typically done by isolating the tumor cells from a patient's tissue sample, then placing them in a nutrient-rich environment that promotes their growth and multiplication.

The resulting cultured tumor cells can be used for various research purposes, including the study of cancer biology, drug development, and toxicity testing. They provide a valuable tool for researchers to better understand the behavior and characteristics of cancer cells outside of the human body, which can lead to the development of more effective cancer treatments.

It is important to note that cultured tumor cells may not always behave exactly the same way as they do in the human body, so findings from cell culture studies must be validated through further research, such as animal models or clinical trials.

DNA primers are short single-stranded DNA molecules that serve as a starting point for DNA synthesis. They are typically used in laboratory techniques such as the polymerase chain reaction (PCR) and DNA sequencing. The primer binds to a complementary sequence on the DNA template through base pairing, providing a free 3'-hydroxyl group for the DNA polymerase enzyme to add nucleotides and synthesize a new strand of DNA. This allows for specific and targeted amplification or analysis of a particular region of interest within a larger DNA molecule.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Telomeric Repeat Binding Protein 1 (TRF1) is a protein that binds to the telomeres, which are the repetitive DNA sequences found at the ends of chromosomes. TRF1 plays a crucial role in the protection and regulation of telomere length. It helps to form a protective cap on the end of the chromosome, preventing it from being recognized as damaged or broken. Additionally, TRF1 is involved in the negative regulation of telomerase, an enzyme that adds repetitive DNA sequences to the ends of chromosomes, thereby controlling the length of the telomeres. Mutations in TRF1 have been associated with certain types of cancer and premature aging disorders.

SCID mice is an acronym for Severe Combined Immunodeficiency mice. These are genetically modified mice that lack a functional immune system due to the mutation or knockout of several key genes required for immunity. This makes them ideal for studying the human immune system, infectious diseases, and cancer, as well as testing new therapies and treatments in a controlled environment without the risk of interference from the mouse's own immune system. SCID mice are often used in xenotransplantation studies, where human cells or tissues are transplanted into the mouse to study their behavior and interactions with the human immune system.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Securin is not a medical term, but rather a biological concept related to cell division. It's a protein that plays a crucial role in the regulation of chromosome separation during cell division (mitosis).

During mitosis, sister chromatids (identical copies of a chromosome) are held together by cohesin proteins until it's time for them to separate and move to opposite ends of the cell. Securin is one of the proteins that helps regulate this process. Specifically, securin inhibits an enzyme called separase, which is responsible for cleaving the cohesin rings that hold sister chromatids together.

Once the cell is ready to separate its chromosomes, a protease called separase is activated and degrades securin. This allows separase to cleave the cohesin rings, leading to the separation of sister chromatids and the continuation of mitosis. If securin function is disrupted, it can lead to errors in chromosome segregation, which can contribute to genomic instability and diseases like cancer.

Epithelial cells are types of cells that cover the outer surfaces of the body, line the inner surfaces of organs and glands, and form the lining of blood vessels and body cavities. They provide a protective barrier against the external environment, regulate the movement of materials between the internal and external environments, and are involved in the sense of touch, temperature, and pain. Epithelial cells can be squamous (flat and thin), cuboidal (square-shaped and of equal height), or columnar (tall and narrow) in shape and are classified based on their location and function.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Fanconi Anemia Complementation Group D2 Protein, also known as FANCD2 protein, is a key player in the Fanconi anemia (FA) pathway, which is a DNA repair pathway that helps to maintain genomic stability. The FA pathway is responsible for the repair of DNA interstrand cross-links (ICLs), which are harmful lesions that can lead to genomic instability and cancer.

FANCD2 protein is part of the E3 ubiquitin ligase complex that monoubiquitinates FANCI protein, forming a heterodimeric complex known as ID2. The monoubiquitination of FANCD2/FANCI is a critical step in the FA pathway and is required for the recruitment of downstream repair factors to the site of DNA damage.

Mutations in the gene that encodes FANCD2 protein can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. The disease is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

RNA interference (RNAi) is a biological process in which RNA molecules inhibit the expression of specific genes. This process is mediated by small RNA molecules, including microRNAs (miRNAs) and small interfering RNAs (siRNAs), that bind to complementary sequences on messenger RNA (mRNA) molecules, leading to their degradation or translation inhibition.

RNAi plays a crucial role in regulating gene expression and defending against foreign genetic elements, such as viruses and transposons. It has also emerged as an important tool for studying gene function and developing therapeutic strategies for various diseases, including cancer and viral infections.

Human chromosome pair 1 refers to the first pair of chromosomes in a set of 23 pairs found in the cells of the human body, excluding sex cells (sperm and eggs). Each cell in the human body, except for the gametes, contains 46 chromosomes arranged in 23 pairs. These chromosomes are rod-shaped structures that contain genetic information in the form of DNA.

Chromosome pair 1 is the largest pair, making up about 8% of the total DNA in a cell. Each chromosome in the pair consists of two arms - a shorter p arm and a longer q arm - connected at a centromere. Chromosome 1 carries an estimated 2,000-2,500 genes, which are segments of DNA that contain instructions for making proteins or regulating gene expression.

Defects or mutations in the genes located on chromosome 1 can lead to various genetic disorders and diseases, such as Charcot-Marie-Tooth disease type 1A, Huntington's disease, and certain types of cancer.

Phosphorylation is the process of adding a phosphate group (a molecule consisting of one phosphorus atom and four oxygen atoms) to a protein or other organic molecule, which is usually done by enzymes called kinases. This post-translational modification can change the function, localization, or activity of the target molecule, playing a crucial role in various cellular processes such as signal transduction, metabolism, and regulation of gene expression. Phosphorylation is reversible, and the removal of the phosphate group is facilitated by enzymes called phosphatases.

Up-regulation is a term used in molecular biology and medicine to describe an increase in the expression or activity of a gene, protein, or receptor in response to a stimulus. This can occur through various mechanisms such as increased transcription, translation, or reduced degradation of the molecule. Up-regulation can have important functional consequences, for example, enhancing the sensitivity or response of a cell to a hormone, neurotransmitter, or drug. It is a normal physiological process that can also be induced by disease or pharmacological interventions.

Beta-catenin is a protein that plays a crucial role in gene transcription and cell-cell adhesion. It is a key component of the Wnt signaling pathway, which regulates various processes such as cell proliferation, differentiation, and migration during embryonic development and tissue homeostasis in adults.

In the absence of Wnt signals, beta-catenin forms a complex with other proteins, including adenomatous polyposis coli (APC) and axin, which targets it for degradation by the proteasome. When Wnt ligands bind to their receptors, this complex is disrupted, allowing beta-catenin to accumulate in the cytoplasm and translocate to the nucleus. In the nucleus, beta-catenin interacts with T cell factor/lymphoid enhancer-binding factor (TCF/LEF) transcription factors to activate the transcription of target genes involved in cell fate determination, survival, and proliferation.

Mutations in the genes encoding components of the Wnt signaling pathway, including beta-catenin, have been implicated in various human diseases, such as cancer, developmental disorders, and degenerative conditions.

I'm happy to help! However, I believe there may be a slight mistake in your question. The abbreviation "cdc" is not typically associated with genetics or genes in the context of medical definitions.

If you meant to ask for a definition of "genes," here it is:

Genes are segments of DNA (deoxyribonucleic acid) that contain the instructions for the development, function, and reproduction of all living organisms. They are the basic units of heredity, passed down from one generation to the next. Genes encode specific proteins or RNA molecules that play critical roles in the structure, function, and regulation of the body's cells, tissues, and organs.

If you had a different term in mind, please let me know, and I will be happy to provide a definition for it!

Pancreatic neoplasms refer to abnormal growths in the pancreas that can be benign or malignant. The pancreas is a gland located behind the stomach that produces hormones and digestive enzymes. Pancreatic neoplasms can interfere with the normal functioning of the pancreas, leading to various health complications.

Benign pancreatic neoplasms are non-cancerous growths that do not spread to other parts of the body. They are usually removed through surgery to prevent any potential complications, such as blocking the bile duct or causing pain.

Malignant pancreatic neoplasms, also known as pancreatic cancer, are cancerous growths that can invade and destroy surrounding tissues and organs. They can also spread (metastasize) to other parts of the body, such as the liver, lungs, or bones. Pancreatic cancer is often aggressive and difficult to treat, with a poor prognosis.

There are several types of pancreatic neoplasms, including adenocarcinomas, neuroendocrine tumors, solid pseudopapillary neoplasms, and cystic neoplasms. The specific type of neoplasm is determined through various diagnostic tests, such as imaging studies, biopsies, and blood tests. Treatment options depend on the type, stage, and location of the neoplasm, as well as the patient's overall health and preferences.

Antineoplastic agents are a class of drugs used to treat malignant neoplasms or cancer. These agents work by inhibiting the growth and proliferation of cancer cells, either by killing them or preventing their division and replication. Antineoplastic agents can be classified based on their mechanism of action, such as alkylating agents, antimetabolites, topoisomerase inhibitors, mitotic inhibitors, and targeted therapy agents.

Alkylating agents work by adding alkyl groups to DNA, which can cause cross-linking of DNA strands and ultimately lead to cell death. Antimetabolites interfere with the metabolic processes necessary for DNA synthesis and replication, while topoisomerase inhibitors prevent the relaxation of supercoiled DNA during replication. Mitotic inhibitors disrupt the normal functioning of the mitotic spindle, which is essential for cell division. Targeted therapy agents are designed to target specific molecular abnormalities in cancer cells, such as mutated oncogenes or dysregulated signaling pathways.

It's important to note that antineoplastic agents can also affect normal cells and tissues, leading to various side effects such as nausea, vomiting, hair loss, and myelosuppression (suppression of bone marrow function). Therefore, the use of these drugs requires careful monitoring and management of their potential adverse effects.

Human chromosome pair 18 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Chromosomes are made up of DNA, protein, and RNA, and they carry genetic information that determines an individual's physical characteristics, biochemical processes, and susceptibility to disease.

Chromosome pair 18 is one of the 23 pairs of chromosomes that make up the human genome. Each member of chromosome pair 18 has a length of about 75 million base pairs and contains around 600 genes. Chromosome pair 18 is also known as the "smart chromosome" because it contains many genes involved in brain development, function, and cognition.

Abnormalities in chromosome pair 18 can lead to genetic disorders such as Edwards syndrome (trisomy 18), in which there is an extra copy of chromosome 18, or deletion of a portion of the chromosome, leading to various developmental and cognitive impairments.

I'm sorry for any confusion, but "Sarcoma, Experimental" is not a recognized medical term or definition. Sarcomas are a type of cancer that develop in the body's connective tissues, such as bones, muscles, tendons, cartilage, and fat. There are many different types of sarcomas, classified based on the specific type of tissue they originate from.

Experimental, on the other hand, refers to something that is being tested or tried out for the first time, typically as part of a scientific experiment or clinical trial. In the context of cancer treatment, an experimental therapy might refer to a new drug, procedure, or device that is still being studied in clinical trials to determine its safety and effectiveness.

Therefore, "Sarcoma, Experimental" could potentially refer to a clinical trial or research study involving a new treatment for sarcoma, but it would not be a medical definition in and of itself. If you have any specific questions about sarcomas or experimental treatments, I would recommend consulting with a healthcare professional or medical researcher for more accurate information.

A dose-response relationship in radiation refers to the correlation between the amount of radiation exposure (dose) and the biological response or adverse health effects observed in exposed individuals. As the level of radiation dose increases, the severity and frequency of the adverse health effects also tend to increase. This relationship is crucial in understanding the risks associated with various levels of radiation exposure and helps inform radiation protection standards and guidelines.

The effects of ionizing radiation can be categorized into two types: deterministic and stochastic. Deterministic effects have a threshold dose below which no effect is observed, and above this threshold, the severity of the effect increases with higher doses. Examples include radiation-induced cataracts or radiation dermatitis. Stochastic effects, on the other hand, do not have a clear threshold and are based on probability; as the dose increases, so does the likelihood of the adverse health effect occurring, such as an increased risk of cancer.

Understanding the dose-response relationship in radiation exposure is essential for setting limits on occupational and public exposure to ionizing radiation, optimizing radiation protection practices, and developing effective medical countermeasures in case of radiation emergencies.

Genetic transcription is the process by which the information in a strand of DNA is used to create a complementary RNA molecule. This process is the first step in gene expression, where the genetic code in DNA is converted into a form that can be used to produce proteins or functional RNAs.

During transcription, an enzyme called RNA polymerase binds to the DNA template strand and reads the sequence of nucleotide bases. As it moves along the template, it adds complementary RNA nucleotides to the growing RNA chain, creating a single-stranded RNA molecule that is complementary to the DNA template strand. Once transcription is complete, the RNA molecule may undergo further processing before it can be translated into protein or perform its functional role in the cell.

Transcription can be either "constitutive" or "regulated." Constitutive transcription occurs at a relatively constant rate and produces essential proteins that are required for basic cellular functions. Regulated transcription, on the other hand, is subject to control by various intracellular and extracellular signals, allowing cells to respond to changing environmental conditions or developmental cues.

The Fluorescent Antibody Technique (FAT) is a type of immunofluorescence assay used in laboratory medicine and pathology for the detection and localization of specific antigens or antibodies in tissues, cells, or microorganisms. In this technique, a fluorescein-labeled antibody is used to selectively bind to the target antigen or antibody, forming an immune complex. When excited by light of a specific wavelength, the fluorescein label emits light at a longer wavelength, typically visualized as green fluorescence under a fluorescence microscope.

The FAT is widely used in diagnostic microbiology for the identification and characterization of various bacteria, viruses, fungi, and parasites. It has also been applied in the diagnosis of autoimmune diseases and certain cancers by detecting specific antibodies or antigens in patient samples. The main advantage of FAT is its high sensitivity and specificity, allowing for accurate detection and differentiation of various pathogens and disease markers. However, it requires specialized equipment and trained personnel to perform and interpret the results.

Telomeric Repeat Binding Protein 2 (TRF2) is a protein that binds to the telomeres, which are the repetitive DNA sequences found at the ends of chromosomes. TRF2 plays a crucial role in protecting the telomeres from being recognized as damaged or broken DNA, which could otherwise lead to chromosomal instability and cellular senescence or apoptosis.

TRF2 is a member of the shelterin complex, a group of proteins that bind to and protect telomeres. TRF2 specifically binds to double-stranded TTAGGG repeats in the telomeric DNA through its N-terminal Myb-like DNA binding domain. By binding to the telomeres, TRF2 helps to prevent the activation of the DNA damage response (DDR) pathway and the subsequent activation of p53-dependent cell cycle checkpoints or apoptosis.

TRF2 has also been shown to play a role in regulating the length of telomeres. It can inhibit the activity of telomerase, an enzyme that adds repetitive DNA sequences to the ends of chromosomes, thereby limiting the extension of telomeres. TRF2 can also promote the formation of t-loops, a higher-order structure in which the 3' overhang of the telomere invades the double-stranded telomeric DNA, forming a displacement loop (D-loop). This helps to protect the telomere from being recognized as a double-strand break and degraded by nucleases.

Mutations in TRF2 have been associated with several human diseases, including premature aging disorders such as dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome, as well as cancer.

Human chromosome pair 9 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. The two chromosomes in a pair are identical or very similar to each other in terms of their size, shape, and genetic makeup.

Chromosome 9 is one of the autosomal chromosomes, meaning that it is not a sex chromosome (X or Y) and is present in two copies in all cells of the body, regardless of sex. Chromosome 9 is a medium-sized chromosome, and it is estimated to contain around 135 million base pairs of DNA and approximately 1200 genes.

Chromosome 9 contains several important genes that are associated with various human traits and diseases. For example, mutations in the gene that encodes the protein APOE on chromosome 9 have been linked to an increased risk of developing Alzheimer's disease. Additionally, variations in the gene that encodes the protein EGFR on chromosome 9 have been associated with an increased risk of developing certain types of cancer.

Overall, human chromosome pair 9 plays a critical role in the development and function of the human body, and variations in its genetic makeup can contribute to a wide range of traits and diseases.

The G2 phase, also known as the "gap 2 phase," is a stage in the cell cycle that occurs after DNA replication (S phase) and before cell division (mitosis). During this phase, the cell prepares for mitosis by completing the synthesis of proteins and organelles needed for chromosome separation. The cell also checks for any errors or damage to the DNA before entering mitosis. This phase is a critical point in the cell cycle where proper regulation ensures the faithful transmission of genetic information from one generation of cells to the next. If significant DNA damage is detected during G2, the cell may undergo programmed cell death (apoptosis) instead of dividing.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

Fluorescence microscopy is a type of microscopy that uses fluorescent dyes or proteins to highlight and visualize specific components within a sample. In this technique, the sample is illuminated with high-energy light, typically ultraviolet (UV) or blue light, which excites the fluorescent molecules causing them to emit lower-energy, longer-wavelength light, usually visible light in the form of various colors. This emitted light is then collected by the microscope and detected to produce an image.

Fluorescence microscopy has several advantages over traditional brightfield microscopy, including the ability to visualize specific structures or molecules within a complex sample, increased sensitivity, and the potential for quantitative analysis. It is widely used in various fields of biology and medicine, such as cell biology, neuroscience, and pathology, to study the structure, function, and interactions of cells and proteins.

There are several types of fluorescence microscopy techniques, including widefield fluorescence microscopy, confocal microscopy, two-photon microscopy, and total internal reflection fluorescence (TIRF) microscopy, each with its own strengths and limitations. These techniques can provide valuable insights into the behavior of cells and proteins in health and disease.

An unstable DNA sequence, also known as a "dynamic mutation" or "expansion mutation," refers to a type of genetic variation in which a specific DNA sequence is repeated many more times than usual. These repetitive sequences are prone to expand and contract, meaning that the number of repeats can change from one generation to the next or even within an individual's cells over time.

Unstable DNA sequences are often associated with certain genetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the repeat expansion can influence the severity and age of onset of these conditions. Expansions in some unstable DNA sequences can also increase the risk of developing certain cancers, such as colon cancer and breast cancer.

The instability of these DNA sequences is thought to be due to errors that occur during DNA replication or repair, particularly in regions where the repetitive sequence makes the DNA more difficult to process. Over time, these errors can lead to an accumulation of additional repeats, resulting in an unstable DNA sequence.

Repressor proteins are a type of regulatory protein in molecular biology that suppress the transcription of specific genes into messenger RNA (mRNA) by binding to DNA. They function as part of gene regulation processes, often working in conjunction with an operator region and a promoter region within the DNA molecule. Repressor proteins can be activated or deactivated by various signals, allowing for precise control over gene expression in response to changing cellular conditions.

There are two main types of repressor proteins:

1. DNA-binding repressors: These directly bind to specific DNA sequences (operator regions) near the target gene and prevent RNA polymerase from transcribing the gene into mRNA.
2. Allosteric repressors: These bind to effector molecules, which then cause a conformational change in the repressor protein, enabling it to bind to DNA and inhibit transcription.

Repressor proteins play crucial roles in various biological processes, such as development, metabolism, and stress response, by controlling gene expression patterns in cells.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Mammary neoplasms in animals refer to abnormal growths or tumors that occur in the mammary glands. These tumors can be benign (non-cancerous) or malignant (cancerous). Benign tumors are slow growing and rarely spread to other parts of the body, while malignant tumors are aggressive, can invade surrounding tissues, and may metastasize to distant organs.

Mammary neoplasms are more common in female animals, particularly those that have not been spayed. The risk factors for developing mammary neoplasms include age, reproductive status, hormonal influences, and genetic predisposition. Certain breeds of dogs, such as poodles, cocker spaniels, and dachshunds, are more prone to developing mammary tumors.

Clinical signs of mammary neoplasms may include the presence of a firm, discrete mass in the mammary gland, changes in the overlying skin such as ulceration or discoloration, and evidence of pain or discomfort in the affected area. Diagnosis is typically made through a combination of physical examination, imaging studies (such as mammography or ultrasound), and biopsy with histopathological evaluation.

Treatment options for mammary neoplasms depend on the type, size, location, and stage of the tumor, as well as the animal's overall health status. Surgical removal is often the primary treatment modality, and may be curative for benign tumors or early-stage malignant tumors. Radiation therapy and chemotherapy may also be used in cases where the tumor has spread to other parts of the body. Regular veterinary check-ups and monitoring are essential to ensure early detection and treatment of any recurrence or new mammary neoplasms.

A rhabdoid tumor is a rare and aggressive type of cancer that typically develops in the kidneys of children, but can also occur in other areas of the body such as the brain, soft tissues, and lungs. These tumors are characterized by the presence of cells with a unique appearance, known as rhabdoid cells, which have large nuclei, prominent nucleoli, and eosinophilic inclusions.

Rhabdoid tumors can occur in both children and adults, but they are most commonly found in children under the age of 3. They are often resistant to conventional cancer treatments such as chemotherapy and radiation therapy, making them difficult to treat. The prognosis for patients with rhabdoid tumors is generally poor, with a high rate of recurrence and metastasis.

The exact cause of rhabdoid tumors is not known, but they are associated with mutations in the SMARCB1 or SMARCA4 genes, which are involved in regulating gene expression and maintaining genomic stability. These genetic changes can occur spontaneously or may be inherited from a parent.

Treatment for rhabdoid tumors typically involves a combination of surgery, chemotherapy, and radiation therapy. In some cases, stem cell transplantation or targeted therapies may also be used. Despite aggressive treatment, the prognosis for patients with rhabdoid tumors remains poor, with a five-year survival rate of less than 20%.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

I cannot provide a specific medical definition for "Melanoma, Experimental," as it is not a standardized medical term. However, I can give you information about melanoma and experimental treatments related to this disease.

Melanoma is a type of cancer that develops from pigment-producing cells known as melanocytes. It usually occurs in the skin but can rarely occur in other parts of the body, such as the eyes or internal organs. Melanoma is characterized by the uncontrolled growth and multiplication of melanocytes, forming malignant tumors.

Experimental treatments for melanoma refer to novel therapeutic strategies that are currently being researched and tested in clinical trials. These experimental treatments may include:

1. Targeted therapies: Drugs that target specific genetic mutations or molecular pathways involved in melanoma growth and progression. Examples include BRAF and MEK inhibitors, such as vemurafenib, dabrafenib, and trametinib.
2. Immunotherapies: Treatments designed to enhance the immune system's ability to recognize and destroy cancer cells. These may include checkpoint inhibitors (e.g., ipilimumab, nivolumab, pembrolizumab), adoptive cell therapies (e.g., CAR T-cell therapy), and therapeutic vaccines.
3. Oncolytic viruses: Genetically modified viruses that can selectively infect and kill cancer cells while leaving healthy cells unharmed. Talimogene laherparepvec (T-VEC) is an example of an oncolytic virus approved for the treatment of advanced melanoma.
4. Combination therapies: The use of multiple experimental treatments in combination to improve efficacy and reduce the risk of resistance. For instance, combining targeted therapies with immunotherapies or different types of immunotherapies.
5. Personalized medicine approaches: Using genetic testing and biomarker analysis to identify the most effective treatment for an individual patient based on their specific tumor characteristics.

It is essential to consult with healthcare professionals and refer to clinical trial databases, such as ClinicalTrials.gov, for up-to-date information on experimental treatments for melanoma.

Monoclonal antibodies are a type of antibody that are identical because they are produced by a single clone of cells. They are laboratory-produced molecules that act like human antibodies in the immune system. They can be designed to attach to specific proteins found on the surface of cancer cells, making them useful for targeting and treating cancer. Monoclonal antibodies can also be used as a therapy for other diseases, such as autoimmune disorders and inflammatory conditions.

Monoclonal antibodies are produced by fusing a single type of immune cell, called a B cell, with a tumor cell to create a hybrid cell, or hybridoma. This hybrid cell is then able to replicate indefinitely, producing a large number of identical copies of the original antibody. These antibodies can be further modified and engineered to enhance their ability to bind to specific targets, increase their stability, and improve their effectiveness as therapeutic agents.

Monoclonal antibodies have several mechanisms of action in cancer therapy. They can directly kill cancer cells by binding to them and triggering an immune response. They can also block the signals that promote cancer growth and survival. Additionally, monoclonal antibodies can be used to deliver drugs or radiation directly to cancer cells, increasing the effectiveness of these treatments while minimizing their side effects on healthy tissues.

Monoclonal antibodies have become an important tool in modern medicine, with several approved for use in cancer therapy and other diseases. They are continuing to be studied and developed as a promising approach to treating a wide range of medical conditions.

Histones are highly alkaline proteins found in the chromatin of eukaryotic cells. They are rich in basic amino acid residues, such as arginine and lysine, which give them their positive charge. Histones play a crucial role in packaging DNA into a more compact structure within the nucleus by forming a complex with it called a nucleosome. Each nucleosome contains about 146 base pairs of DNA wrapped around an octamer of eight histone proteins (two each of H2A, H2B, H3, and H4). The N-terminal tails of these histones are subject to various post-translational modifications, such as methylation, acetylation, and phosphorylation, which can influence chromatin structure and gene expression. Histone variants also exist, which can contribute to the regulation of specific genes and other nuclear processes.

Proto-oncogene proteins, such as c-Myc, are crucial regulators of normal cell growth, differentiation, and apoptosis (programmed cell death). When proto-oncogenes undergo mutations or alterations in their regulation, they can become overactive or overexpressed, leading to the formation of oncogenes. Oncogenic forms of c-Myc contribute to uncontrolled cell growth and division, which can ultimately result in cancer development.

The c-Myc protein is a transcription factor that binds to specific DNA sequences, influencing the expression of target genes involved in various cellular processes, such as:

1. Cell cycle progression: c-Myc promotes the expression of genes required for the G1 to S phase transition, driving cells into the DNA synthesis and division phase.
2. Metabolism: c-Myc regulates genes associated with glucose metabolism, glycolysis, and mitochondrial function, enhancing energy production in rapidly dividing cells.
3. Apoptosis: c-Myc can either promote or inhibit apoptosis, depending on the cellular context and the presence of other regulatory factors.
4. Differentiation: c-Myc generally inhibits differentiation by repressing genes that are necessary for specialized cell functions.
5. Angiogenesis: c-Myc can induce the expression of pro-angiogenic factors, promoting the formation of new blood vessels to support tumor growth.

Dysregulation of c-Myc is frequently observed in various types of cancer, making it an important therapeutic target for cancer treatment.

A base pair mismatch is a type of mutation that occurs during the replication or repair of DNA, where two incompatible nucleotides pair up instead of the usual complementary bases (adenine-thymine or cytosine-guanine). This can result in the substitution of one base pair for another and may lead to changes in the genetic code, potentially causing errors in protein synthesis and possibly contributing to genetic disorders or diseases, including cancer.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Cyclin B is a type of cyclin protein that regulates the cell cycle, specifically the transition from G2 phase to mitosis (M phase) in eukaryotic cells. Cyclin B binds and activates cyclin-dependent kinase 1 (CDK1), forming the complex known as M-phase promoting factor (MPF). This complex triggers the events leading to cell division, such as chromosome condensation, nuclear envelope breakdown, and spindle formation. The levels of cyclin B increase during the G2 phase and are degraded by the anaphase-promoting complex/cyclosome (APC/C) at the onset of anaphase, allowing the cell cycle to progress into the next phase.

Protein binding, in the context of medical and biological sciences, refers to the interaction between a protein and another molecule (known as the ligand) that results in a stable complex. This process is often reversible and can be influenced by various factors such as pH, temperature, and concentration of the involved molecules.

In clinical chemistry, protein binding is particularly important when it comes to drugs, as many of them bind to proteins (especially albumin) in the bloodstream. The degree of protein binding can affect a drug's distribution, metabolism, and excretion, which in turn influence its therapeutic effectiveness and potential side effects.

Protein-bound drugs may be less available for interaction with their target tissues, as only the unbound or "free" fraction of the drug is active. Therefore, understanding protein binding can help optimize dosing regimens and minimize adverse reactions.

A Granulosa Cell Tumor is a type of sex cord-stromal tumor, which are uncommon neoplasms that arise from the supporting cells of the ovary or testis. These tumors account for approximately 5% of all ovarian tumors and can occur at any age, but they are most commonly found in perimenopausal and postmenopausal women.

Granulosa cell tumors originate from the granulosa cells, which are normally responsible for producing estrogen and supporting the development of the egg within the ovarian follicle. These tumors can be functional, meaning they produce hormones, or nonfunctional. Functional granulosa cell tumors often secrete estrogen, leading to symptoms such as irregular menstrual periods, postmenopausal bleeding, and, in rare cases, the development of male characteristics (virilization) due to androgen production.

Granulosa cell tumors are typically slow-growing and can vary in size. They are often diagnosed at an early stage because they cause symptoms related to hormonal imbalances or, less commonly, due to abdominal pain or distention caused by the growing mass. The diagnosis is usually confirmed through imaging studies (such as ultrasound, CT, or MRI) and a biopsy or surgical removal of the tumor, followed by histopathological examination.

Treatment for granulosa cell tumors typically involves surgery to remove the tumor and, in some cases, adjacent organs if there is evidence of spread. The role of chemotherapy and radiation therapy is less clear, but they may be used in certain situations, such as advanced-stage disease or high-risk features. Regular follow-up with imaging studies and tumor marker measurements (such as inhibin) is essential due to the risk of recurrence, even many years after initial treatment.

Cyclin E is a type of cyclin protein that plays a crucial role in the regulation of the cell cycle, particularly during the G1 phase and the transition to the S phase. It functions as a regulatory subunit of the Cyclin-dependent kinase 2 (CDK2) complex, which is responsible for promoting the progression of the cell cycle.

Cyclin E is synthesized during the late G1 phase of the cell cycle and accumulates to high levels until it forms a complex with CDK2. The Cyclin E-CDK2 complex then phosphorylates several target proteins, leading to the activation of various downstream pathways that promote DNA replication and cell cycle progression.

The regulation of Cyclin E expression and activity is tightly controlled through multiple mechanisms, including transcriptional regulation, protein stability, and proteasomal degradation. Dysregulation of Cyclin E has been implicated in various human cancers, including breast, ovarian, and lung cancer, due to its role in promoting uncontrolled cell proliferation and genomic instability.

The JC (John Cunningham) virus, also known as human polyomavirus 2 (HPyV-2), is a type of double-stranded DNA virus that belongs to the Polyomaviridae family. It is named after the initials of the patient in whom it was first identified.

JC virus is a ubiquitous virus, meaning that it is commonly found in the general population worldwide. Most people get infected with JC virus during childhood and do not experience any symptoms. After the initial infection, the virus remains dormant in the kidneys and other organs of the body.

However, in individuals with weakened immune systems, such as those with HIV/AIDS or who have undergone organ transplantation, JC virus can reactivate and cause a serious brain infection called progressive multifocal leukoencephalopathy (PML). PML is a rare but often fatal disease that affects the white matter of the brain, causing cognitive decline, weakness, and paralysis.

There is currently no cure for PML, and treatment is focused on managing the underlying immune deficiency and controlling the symptoms of the disease.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Gene knockdown techniques are methods used to reduce the expression or function of specific genes in order to study their role in biological processes. These techniques typically involve the use of small RNA molecules, such as siRNAs (small interfering RNAs) or shRNAs (short hairpin RNAs), which bind to and promote the degradation of complementary mRNA transcripts. This results in a decrease in the production of the protein encoded by the targeted gene.

Gene knockdown techniques are often used as an alternative to traditional gene knockout methods, which involve completely removing or disrupting the function of a gene. Knockdown techniques allow for more subtle and reversible manipulation of gene expression, making them useful for studying genes that are essential for cell survival or have redundant functions.

These techniques are widely used in molecular biology research to investigate gene function, genetic interactions, and disease mechanisms. However, it is important to note that gene knockdown can have off-target effects and may not completely eliminate the expression of the targeted gene, so results should be interpreted with caution.

Bone neoplasms are abnormal growths or tumors that develop in the bone. They can be benign (non-cancerous) or malignant (cancerous). Benign bone neoplasms do not spread to other parts of the body and are rarely a threat to life, although they may cause problems if they grow large enough to press on surrounding tissues or cause fractures. Malignant bone neoplasms, on the other hand, can invade and destroy nearby tissue and may spread (metastasize) to other parts of the body.

There are many different types of bone neoplasms, including:

1. Osteochondroma - a benign tumor that develops from cartilage and bone
2. Enchondroma - a benign tumor that forms in the cartilage that lines the inside of the bones
3. Chondrosarcoma - a malignant tumor that develops from cartilage
4. Osteosarcoma - a malignant tumor that develops from bone cells
5. Ewing sarcoma - a malignant tumor that develops in the bones or soft tissues around the bones
6. Giant cell tumor of bone - a benign or occasionally malignant tumor that develops from bone tissue
7. Fibrosarcoma - a malignant tumor that develops from fibrous tissue in the bone

The symptoms of bone neoplasms vary depending on the type, size, and location of the tumor. They may include pain, swelling, stiffness, fractures, or limited mobility. Treatment options depend on the type and stage of the tumor but may include surgery, radiation therapy, chemotherapy, or a combination of these treatments.

Local neoplasm recurrence is the return or regrowth of a tumor in the same location where it was originally removed or treated. This means that cancer cells have survived the initial treatment and started to grow again in the same area. It's essential to monitor and detect any local recurrence as early as possible, as it can affect the prognosis and may require additional treatment.

Retinoblastoma Protein (pRb or RB1) is a tumor suppressor protein that plays a critical role in regulating the cell cycle and preventing uncontrolled cell growth. It is encoded by the RB1 gene, located on chromosome 13. The retinoblastoma protein functions as a regulatory checkpoint in the cell cycle, preventing cells from progressing into the S phase (DNA synthesis phase) until certain conditions are met.

When pRb is in its active state, it binds to and inhibits the activity of E2F transcription factors, which promote the expression of genes required for DNA replication and cell cycle progression. Phosphorylation of pRb by cyclin-dependent kinases (CDKs) leads to the release of E2F factors, allowing them to activate their target genes and drive the cell into S phase.

Mutations in the RB1 gene can result in the production of a nonfunctional or reduced amount of pRb protein, leading to uncontrolled cell growth and an increased risk of developing retinoblastoma, a rare form of eye cancer, as well as other types of tumors.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

Chromosome banding is a technique used in cytogenetics to identify and describe the physical structure and organization of chromosomes. This method involves staining the chromosomes with specific dyes that bind differently to the DNA and proteins in various regions of the chromosome, resulting in a distinct pattern of light and dark bands when viewed under a microscope.

The most commonly used banding techniques are G-banding (Giemsa banding) and R-banding (reverse banding). In G-banding, the chromosomes are stained with Giemsa dye, which preferentially binds to the AT-rich regions, creating a characteristic banding pattern. The bands are numbered from the centromere (the constriction point where the chromatids join) outwards, with the darker bands (rich in A-T base pairs and histone proteins) labeled as "q" arms and the lighter bands (rich in G-C base pairs and arginine-rich proteins) labeled as "p" arms.

R-banding, on the other hand, uses a different staining procedure that results in a reversed banding pattern compared to G-banding. The darker R-bands correspond to the lighter G-bands, and vice versa. This technique is particularly useful for identifying and analyzing specific regions of chromosomes that may be difficult to visualize with G-banding alone.

Chromosome banding plays a crucial role in diagnosing genetic disorders, identifying chromosomal abnormalities, and studying the structure and function of chromosomes in both clinical and research settings.

Glioblastoma, also known as Glioblastoma multiforme (GBM), is a highly aggressive and malignant type of brain tumor that arises from the glial cells in the brain. These tumors are characterized by their rapid growth, invasion into surrounding brain tissue, and resistance to treatment.

Glioblastomas are composed of various cell types, including astrocytes and other glial cells, which make them highly heterogeneous and difficult to treat. They typically have a poor prognosis, with a median survival rate of 14-15 months from the time of diagnosis, even with aggressive treatment.

Symptoms of glioblastoma can vary depending on the location and size of the tumor but may include headaches, seizures, nausea, vomiting, memory loss, difficulty speaking or understanding speech, changes in personality or behavior, and weakness or paralysis on one side of the body.

Standard treatment for glioblastoma typically involves surgical resection of the tumor, followed by radiation therapy and chemotherapy with temozolomide. However, despite these treatments, glioblastomas often recur, leading to a poor overall prognosis.

A mammalian embryo is the developing offspring of a mammal, from the time of implantation of the fertilized egg (blastocyst) in the uterus until the end of the eighth week of gestation. During this period, the embryo undergoes rapid cell division and organ differentiation to form a complex structure with all the major organs and systems in place. This stage is followed by fetal development, which continues until birth. The study of mammalian embryos is important for understanding human development, evolution, and reproductive biology.

A Tumor Stem Cell Assay is not a widely accepted or standardized medical definition. However, in the context of cancer research, a tumor stem cell assay generally refers to an experimental procedure used to identify and isolate cancer stem cells (also known as tumor-initiating cells) from a tumor sample.

Cancer stem cells are a subpopulation of cells within a tumor that are believed to be responsible for driving tumor growth, metastasis, and resistance to therapy. They have the ability to self-renew and differentiate into various cell types within the tumor, making them a promising target for cancer therapies.

A tumor stem cell assay typically involves isolating cells from a tumor sample and subjecting them to various tests to identify those with stem cell-like properties. These tests may include assessing their ability to form tumors in animal models or their expression of specific surface markers associated with cancer stem cells. The goal of the assay is to provide researchers with a better understanding of the biology of cancer stem cells and to develop new therapies that target them specifically.

Chromosomal proteins, non-histone, are a diverse group of proteins that are associated with chromatin, the complex of DNA and histone proteins, but do not have the characteristic structure of histones. These proteins play important roles in various nuclear processes such as DNA replication, transcription, repair, recombination, and chromosome condensation and segregation during cell division. They can be broadly classified into several categories based on their functions, including architectural proteins, enzymes, transcription factors, and structural proteins. Examples of non-histone chromosomal proteins include high mobility group (HMG) proteins, poly(ADP-ribose) polymerases (PARPs), and condensins.

Stomach neoplasms refer to abnormal growths in the stomach that can be benign or malignant. They include a wide range of conditions such as:

1. Gastric adenomas: These are benign tumors that develop from glandular cells in the stomach lining.
2. Gastrointestinal stromal tumors (GISTs): These are rare tumors that can be found in the stomach and other parts of the digestive tract. They originate from the stem cells in the wall of the digestive tract.
3. Leiomyomas: These are benign tumors that develop from smooth muscle cells in the stomach wall.
4. Lipomas: These are benign tumors that develop from fat cells in the stomach wall.
5. Neuroendocrine tumors (NETs): These are tumors that develop from the neuroendocrine cells in the stomach lining. They can be benign or malignant.
6. Gastric carcinomas: These are malignant tumors that develop from the glandular cells in the stomach lining. They are the most common type of stomach neoplasm and include adenocarcinomas, signet ring cell carcinomas, and others.
7. Lymphomas: These are malignant tumors that develop from the immune cells in the stomach wall.

Stomach neoplasms can cause various symptoms such as abdominal pain, nausea, vomiting, weight loss, and difficulty swallowing. The diagnosis of stomach neoplasms usually involves a combination of imaging tests, endoscopy, and biopsy. Treatment options depend on the type and stage of the neoplasm and may include surgery, chemotherapy, radiation therapy, or targeted therapy.

CHO cells, or Chinese Hamster Ovary cells, are a type of immortalized cell line that are commonly used in scientific research and biotechnology. They were originally derived from the ovaries of a female Chinese hamster (Cricetulus griseus) in the 1950s.

CHO cells have several characteristics that make them useful for laboratory experiments. They can grow and divide indefinitely under appropriate conditions, which allows researchers to culture large quantities of them for study. Additionally, CHO cells are capable of expressing high levels of recombinant proteins, making them a popular choice for the production of therapeutic drugs, vaccines, and other biologics.

In particular, CHO cells have become a workhorse in the field of biotherapeutics, with many approved monoclonal antibody-based therapies being produced using these cells. The ability to genetically modify CHO cells through various methods has further expanded their utility in research and industrial applications.

It is important to note that while CHO cells are widely used in scientific research, they may not always accurately represent human cell behavior or respond to drugs and other compounds in the same way as human cells do. Therefore, results obtained using CHO cells should be validated in more relevant systems when possible.

Cyclin B1 is a type of cyclin protein that regulates the cell cycle, specifically the transition from G2 phase to mitosis (M phase) in eukaryotic cells. It forms a complex with and acts as a regulatory subunit of cyclin-dependent kinase 1 (CDK1), also known as CDC2. During the G2 phase, Cyclin B1 levels accumulate and upon reaching a certain threshold, it binds to CDK1 to form the maturation promoting factor (MPF). The activation of MPF triggers the onset of mitosis by promoting nuclear envelope breakdown, chromosome condensation, and other events required for cell division. After the completion of mitosis, Cyclin B1 is degraded by the ubiquitin-proteasome system, allowing the cell cycle to progress back into G1 phase.

DNA mismatch repair (MMR) is a cellular process that helps to correct errors that occur during DNA replication and recombination. This mechanism plays a critical role in maintaining the stability of the genome by reducing the rate of mutations.

The MMR system recognizes and repairs base-base mismatches and small insertions or deletions (indels) that can arise due to slippage of DNA polymerase during replication. The process involves several proteins, including MutSα or MutSβ, which recognize the mismatch, and MutLα, which acts as a endonuclease to cleave the DNA near the mismatch. Excision of the mismatched region is then carried out by exonucleases, followed by resynthesis of the repaired strand using the correct template.

Defects in MMR genes have been linked to various human diseases, including hereditary nonpolyposis colorectal cancer (HNPCC) and other types of cancer. In HNPCC, mutations in MMR genes lead to an accumulation of mutations in critical genes, which can ultimately result in the development of cancer.

Satellite DNA is a type of DNA sequence that is repeated in a tandem arrangement in the genome. These repeats are usually relatively short, ranging from 2 to 10 base pairs, and are often present in thousands to millions of copies arranged in head-to-tail fashion. Satellite DNA can be found in centromeric and pericentromeric regions of chromosomes, as well as at telomeres and other heterochromatic regions of the genome.

Due to their repetitive nature, satellite DNAs are often excluded from the main part of the genome during DNA sequencing projects, and therefore have been referred to as "satellite" DNA. However, recent studies suggest that satellite DNA may play important roles in chromosome structure, function, and evolution.

It's worth noting that not all repetitive DNA sequences are considered satellite DNA. For example, microsatellites and minisatellites are also repetitive DNA sequences, but they have different repeat lengths and arrangements than satellite DNA.

Mutagenesis is the process by which the genetic material (DNA or RNA) of an organism is changed in a way that can alter its phenotype, or observable traits. These changes, known as mutations, can be caused by various factors such as chemicals, radiation, or viruses. Some mutations may have no effect on the organism, while others can cause harm, including diseases and cancer. Mutagenesis is a crucial area of study in genetics and molecular biology, with implications for understanding evolution, genetic disorders, and the development of new medical treatments.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

Human chromosome pair 8 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure known as a chromatin.

Human cells have 23 pairs of chromosomes, for a total of 46 chromosomes. Pair 8 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 8 has a similar size, shape, and banding pattern, and they are identical in males and females.

Chromosome pair 8 contains several genes that are essential for various cellular functions and human development. Some of the genes located on chromosome pair 8 include those involved in the regulation of metabolism, nerve function, immune response, and cell growth and division.

Abnormalities in chromosome pair 8 can lead to genetic disorders such as Wolf-Hirschhorn syndrome, which is caused by a partial deletion of the short arm of chromosome 4, or partial trisomy 8, which results from an extra copy of all or part of chromosome 8. Both of these conditions are associated with developmental delays, intellectual disability, and various physical abnormalities.

Immunoenzyme techniques are a group of laboratory methods used in immunology and clinical chemistry that combine the specificity of antibody-antigen reactions with the sensitivity and amplification capabilities of enzyme reactions. These techniques are primarily used for the detection, quantitation, or identification of various analytes (such as proteins, hormones, drugs, viruses, or bacteria) in biological samples.

In immunoenzyme techniques, an enzyme is linked to an antibody or antigen, creating a conjugate. This conjugate then interacts with the target analyte in the sample, forming an immune complex. The presence and amount of this immune complex can be visualized or measured by detecting the enzymatic activity associated with it.

There are several types of immunoenzyme techniques, including:

1. Enzyme-linked Immunosorbent Assay (ELISA): A widely used method for detecting and quantifying various analytes in a sample. In ELISA, an enzyme is attached to either the capture antibody or the detection antibody. After the immune complex formation, a substrate is added that reacts with the enzyme, producing a colored product that can be measured spectrophotometrically.
2. Immunoblotting (Western blot): A method used for detecting specific proteins in a complex mixture, such as a protein extract from cells or tissues. In this technique, proteins are separated by gel electrophoresis and transferred to a membrane, where they are probed with an enzyme-conjugated antibody directed against the target protein.
3. Immunohistochemistry (IHC): A method used for detecting specific antigens in tissue sections or cells. In IHC, an enzyme-conjugated primary or secondary antibody is applied to the sample, and the presence of the antigen is visualized using a chromogenic substrate that produces a colored product at the site of the antigen-antibody interaction.
4. Immunofluorescence (IF): A method used for detecting specific antigens in cells or tissues by employing fluorophore-conjugated antibodies. The presence of the antigen is visualized using a fluorescence microscope.
5. Enzyme-linked immunosorbent assay (ELISA): A method used for detecting and quantifying specific antigens or antibodies in liquid samples, such as serum or culture supernatants. In ELISA, an enzyme-conjugated detection antibody is added after the immune complex formation, and a substrate is added that reacts with the enzyme to produce a colored product that can be measured spectrophotometrically.

These techniques are widely used in research and diagnostic laboratories for various applications, including protein characterization, disease diagnosis, and monitoring treatment responses.

Protein kinases are a group of enzymes that play a crucial role in many cellular processes by adding phosphate groups to other proteins, a process known as phosphorylation. This modification can activate or deactivate the target protein's function, thereby regulating various signaling pathways within the cell. Protein kinases are essential for numerous biological functions, including metabolism, signal transduction, cell cycle progression, and apoptosis (programmed cell death). Abnormal regulation of protein kinases has been implicated in several diseases, such as cancer, diabetes, and neurological disorders.

Ubiquitin-protein ligases, also known as E3 ubiquitin ligases, are a group of enzymes that play a crucial role in the ubiquitination process. Ubiquitination is a post-translational modification where ubiquitin molecules are attached to specific target proteins, marking them for degradation by the proteasome or for other regulatory functions.

Ubiquitin-protein ligases catalyze the final step in this process by binding to both the ubiquitin protein and the target protein, facilitating the transfer of ubiquitin from an E2 ubiquitin-conjugating enzyme to the target protein. There are several different types of ubiquitin-protein ligases, each with their own specificity for particular target proteins and regulatory functions.

Ubiquitin-protein ligases have been implicated in various cellular processes such as protein degradation, DNA repair, signal transduction, and regulation of the cell cycle. Dysregulation of ubiquitination has been associated with several diseases, including cancer, neurodegenerative disorders, and inflammatory responses. Therefore, understanding the function and regulation of ubiquitin-protein ligases is an important area of research in biology and medicine.

A Phyllodes tumor is a rare type of breast tumor that originates from the connective tissue (stroma) that supports the breast lobules and ducts. These tumors can be benign, borderline, or malignant, depending on their level of invasiveness and cellular atypia.

Phyllodes tumors are typically large, firm, and well-circumscribed masses with a leaf-like (phyllode) internal architecture. They can grow quickly and may cause symptoms such as pain, swelling, or a palpable lump in the breast. Surgical excision is the primary treatment for Phyllodes tumors, and the extent of surgery depends on the tumor's size, grade, and margins. Regular follow-up is necessary to monitor for recurrence.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Survival analysis is a branch of statistics that deals with the analysis of time to event data. It is used to estimate the time it takes for a certain event of interest to occur, such as death, disease recurrence, or treatment failure. The event of interest is called the "failure" event, and survival analysis estimates the probability of not experiencing the failure event until a certain point in time, also known as the "survival" probability.

Survival analysis can provide important information about the effectiveness of treatments, the prognosis of patients, and the identification of risk factors associated with the event of interest. It can handle censored data, which is common in medical research where some participants may drop out or be lost to follow-up before the event of interest occurs.

Survival analysis typically involves estimating the survival function, which describes the probability of surviving beyond a certain time point, as well as hazard functions, which describe the instantaneous rate of failure at a given time point. Other important concepts in survival analysis include median survival times, restricted mean survival times, and various statistical tests to compare survival curves between groups.

Mutagens are physical or chemical agents that can cause permanent changes in the structure of genetic material, including DNA and chromosomes, leading to mutations. These mutations can be passed down to future generations and may increase the risk of cancer and other diseases. Examples of mutagens include ultraviolet (UV) radiation, tobacco smoke, and certain chemicals found in industrial settings. It is important to note that not all mutations are harmful, but some can have negative effects on health and development.

Tumor Necrosis Factor Receptor 1 (TNFR1), also known as p55 or CD120a, is a type I transmembrane protein that belongs to the tumor necrosis factor receptor superfamily. It is widely expressed in various tissues and cells, including immune cells, endothelial cells, and fibroblasts. TNFR1 plays a crucial role in regulating inflammation, immunity, cell survival, differentiation, and apoptosis (programmed cell death).

TNFR1 is activated by its ligand, Tumor Necrosis Factor-alpha (TNF-α), which is a potent proinflammatory cytokine produced mainly by activated macrophages and monocytes. Upon binding of TNF-α to TNFR1, a series of intracellular signaling events are initiated through the recruitment of adaptor proteins, such as TNF receptor-associated death domain (TRADD), receptor-interacting protein kinase 1 (RIPK1), and TNF receptor-associated factor 2 (TRAF2). These interactions lead to the activation of several downstream signaling pathways, including nuclear factor kappa B (NF-κB) and mitogen-activated protein kinases (MAPKs), which ultimately regulate gene expression and cellular responses.

TNFR1 has been implicated in various physiological and pathological processes, such as inflammation, infection, autoimmunity, cancer, and neurodegenerative disorders. Dysregulation of TNFR1 signaling can contribute to the development and progression of several diseases, making it an attractive target for therapeutic interventions.

A genome is the complete set of genetic material (DNA, or in some viruses, RNA) present in a single cell of an organism. It includes all of the genes, both coding and noncoding, as well as other regulatory elements that together determine the unique characteristics of that organism. The human genome, for example, contains approximately 3 billion base pairs and about 20,000-25,000 protein-coding genes.

The term "genome" was first coined by Hans Winkler in 1920, derived from the word "gene" and the suffix "-ome," which refers to a complete set of something. The study of genomes is known as genomics.

Understanding the genome can provide valuable insights into the genetic basis of diseases, evolution, and other biological processes. With advancements in sequencing technologies, it has become possible to determine the entire genomic sequence of many organisms, including humans, and use this information for various applications such as personalized medicine, gene therapy, and biotechnology.

Immunoblotting, also known as western blotting, is a laboratory technique used in molecular biology and immunogenetics to detect and quantify specific proteins in a complex mixture. This technique combines the electrophoretic separation of proteins by gel electrophoresis with their detection using antibodies that recognize specific epitopes (protein fragments) on the target protein.

The process involves several steps: first, the protein sample is separated based on size through sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Next, the separated proteins are transferred onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric field. The membrane is then blocked with a blocking agent to prevent non-specific binding of antibodies.

After blocking, the membrane is incubated with a primary antibody that specifically recognizes the target protein. Following this, the membrane is washed to remove unbound primary antibodies and then incubated with a secondary antibody conjugated to an enzyme such as horseradish peroxidase (HRP) or alkaline phosphatase (AP). The enzyme catalyzes a colorimetric or chemiluminescent reaction that allows for the detection of the target protein.

Immunoblotting is widely used in research and clinical settings to study protein expression, post-translational modifications, protein-protein interactions, and disease biomarkers. It provides high specificity and sensitivity, making it a valuable tool for identifying and quantifying proteins in various biological samples.

Trinucleotide repeats refer to a specific type of DNA sequence expansion where a particular trinucleotide (a sequence made up of three nucleotides) is repeated multiple times. In normal genomic DNA, these repeats are usually present in a relatively stable and consistent range. However, when the number of repeats exceeds a certain threshold, it can result in an unstable genetic variant known as a trinucleotide repeat expansion.

These expansions can occur in various genes and are associated with several neurogenetic disorders, such as Huntington's disease, myotonic dystrophy, fragile X syndrome, and Friedreich's ataxia. The length of the trinucleotide repeat tends to expand further in subsequent generations, which can lead to anticipation – an earlier age of onset and increased severity of symptoms in successive generations.

The most common trinucleotide repeats involve CAG (cytosine-adenine-guanine) or CTG (cytosine-thymine-guanine) repeats, although other combinations like CGG, GAA, and GCT can also be involved. These repeat expansions can result in altered gene function, protein misfolding, aggregation, and toxicity, ultimately leading to the development of neurodegenerative diseases and other clinical manifestations.

"Centrosome amplification drives chromosomal instability in breast tumor development". Proc Natl Acad Sci USA. 99 (4): 1978-1983 ... Nevertheless, it is clear that the presence of an excess of centrosomes is a common event in human tumors. It has been observed ... The presence of an inadequate number of centrosomes is very often linked to the appearance of genome instability and the loss ... This initial observation was subsequently extended to many types of human tumors. Centrosome alterations in cancer can be ...
"The role of chromosomal instability in tumor initiation", Proc. Natl. Acad. Sci. USA, 99 (25): 16226-31, Bibcode:2002PNAS... ... Genome instability can refer to the accumulation of extra copies of DNA or chromosomes, chromosomal translocations, chromosomal ... Genome instability (also genetic instability or genomic instability) refers to a high frequency of mutations within the genome ... also genetic instability, or even chromosomic instability). The process of genome instability often leads to a situation of ...
Chromosomal rearrangement due to genome instability can cause gene amplification and deletion. Gene amplification is the ... which occur frequently in solid tumors, and can contribute to tumor evolution through altered gene expression. Hamster cell ... In the rat, an NF-κB binding site is adjacent to the mdr1b gene, NF-κB can be active in tumour cells because its mutated NF-κB ... Tumors with loss of ER and PR no longer respond to tamoxifen or other anti-estrogen treatments, and while cancer cells remain ...
SIRT2 has been proposed to act as a tumor suppressor by preventing chromosomal instability during mitosis. SIRT2-specific ... SIRT2 may suppress or promote tumor growth in a context-dependent manner. ... "The tumor suppressor SirT2 regulates cell cycle progression and genome stability by modulating the mitotic deposition of H4K20 ... thereby regulating chromosomal condensation during mitosis. During the cell cycle, SIRT2 associates with several mitotic ...
Chromosomal instability in breast tumors was shown to be associated with mutations in the tumor suppressor gene TP53. After the ... Along with studies on cancer genetics Jórunn studied chromosomal instability in breast tumor tissue using Fluorescence In Situ ... and her team demonstrated that complex chromosomal changes and end-to-end chromosome fusions were common in breast tumors from ... Eyfjord, JE; Bodvarsdottir, SK (2005). "Genomic instability and cancer: networks involved in response to DNA damage". Mutat Res ...
The research associated with chromosomal instability is associated with solid tumors, which are tumors that refer to a solid ... which may result in chromosomal instability. Chromosomal instability can in turn cause cancer. However, chromosomal instability ... the majority of colorectal and other solid cancers have chromosomal instability (CIN). This shows that chromosomal instability ... A majority of human solid malignant tumors is characterized by chromosomal instability, and have gain or loss of whole ...
A copy number loss of DNA region 22q11.23, which includes C22orf15, has been linked to chromosomal instability (CIN)-positive ... DNA region 22q11.23 is also significantly more prevalent in basal-like BRCA1-mutated tumors compared to nonmutated wild-type ... September 2010). "Genomic instability and DNA ploidy are linked to DNA copy number aberrations of 8p23 and 22q11.23 in gastric ... BRCA1 tumors. Additionally, C22orf15 is highly differentially expressed in breast cancer cells compared to unaffected mammary ...
The genetic mutations seen in serous carcinoma are chromosomal instability and mutations in TP53, an important tumor suppressor ... Tumors with high progesterone receptor expression have a good prognosis compared to tumors with low progesterone receptor ... They have a worse prognosis than grade III tumors. Histologically, these tumors show sheets of identical epithelial cells with ... Specifically, ovarian granulosa cell tumors and thecomas are tumors associated with endometrial cancer. Low immune function has ...
In the last stage, progression, the tumor has become karyotypically instable: morphological changes in the normal chromosomal ... This instability is caused by additional mutations. This leads to metastasis, hyperproliferation and loss of control by the ... Second stage tumor promoters like mezerein do not have the capacity to initiate tumors, but can create circumstances in which ... This might also correlate with mezerein being a weak tumor promoter. "[(1R,2R,6S,7S,8R,10S,11S,12R,14S,16S,17R,18R)-6,7- ...
Loss-of-function mutations or absence of Bub1 has been reported to result in aneuploidy, chromosomal instability (CIN) and ... of all solid tumors. Loss-of-function mutations or reduced gene expression of Bub1 have been identified in several human tumors ... More precisely, mutations in the spindle checkpoint can lead to chromosomal instability and aneuploidy, a feature present in ... Similarly to its role in kinetochore assembly, it recruits members of the chromosomal passenger complex (CPC) like Aurora B ...
Likewise, abnormal expression of cyclin A2 is associated with chromosomal instability and tumor proliferation, while inhibition ... Overexpression of CCNE1 occurs in many tumor cells, causing the cells to become dependent on Cdk2 and cyclin E. Abnormal cyclin ... Pre-clinical models have shown preliminary success in limiting tumor growth, and have also been observed to reduce side effects ... leads to decreased tumor growth. Therefore, CDK2 and its cyclin binding partners represent possible therapeutic targets for new ...
Aoki K, Tamai Y, Horiike S, Oshima M, Taketo MM (2003). "Colonic polyposis caused by mTOR-mediated chromosomal instability in ... The Min mouse can develop up to 100 polyps in the small intestine in addition to colon tumors. Later, new knock-out mutants of ... Poole AJ, Heap D, Carroll RE, Tyner AL (2004). "Tumor suppressor functions for the Cdk inhibitor p21 in the mouse colon". ... Maltzman T, Whittington J, Driggers L, Stephens J, Ahnen D (1997). "AOM-induced mouse colon tumors do not express full-length ...
... also known as genome instability. Genomic integrity is now appreciated at several levels where some tumors display instability ... "Overexpression of BUBR1 is associated with chromosomal instability in bladder cancer". Cancer Genetics and Cytogenetics. 174 (1 ... Key tumor suppressors such as p53 also play a role in the spindle checkpoint. Absence of p53, the most commonly mutated gene in ... Most solid tumors are also predominantly aneuploid. For colorectal cancer, BUB1 and BUBR1 and amplification of STK15 are key ...
Alterations in this gene have been found associated with chromosomal instability that leads to cancer. In humans, the role of ... It is implicated in prostate tumors, where it is overexpressed, and stimulates cell proliferation in colon cancer cells, where ... and decrease tumor migration and invasion. In mice models, Kdm4a influences various processes leading up to implantation of the ... to transform normal cells into cancerous cells by inhibiting tumor suppressor pathways such as p53. Suppression of Kdm4a in ...
The presence of chromosomal aberrations has been demonstrated in every type of malignant tumor. Although BFB cycles are a major ... Breakage-fusion-bridge (BFB) cycle (also breakage-rejoining-bridge cycle) is a mechanism of chromosomal instability, discovered ... Gisselsson, David (May 2001). "Chromosomal Instability in Cancer: Causes and Consequences". Atlas of Genetics and Cytogenetics ... "Genomic signatures of chromosomal instability and osteosarcoma progression detected by high resolution array CGH and interphase ...
Chromosomal instability (CIN) which have allelic imbalance at a number of chromosomal loci, including 5q, 8p, 17p, and 18q (Fig ... In these tumors, the INI1 gene (SMARCB1)on chromosome 22q functions as a classic tumor suppressor gene. Inactivation of INI1 ... Deletions in tumor cells may represent the inactivation of a tumor suppressor gene, and may have diagnostic, prognostic, or ... Because SNP array karyotyping can be performed on paraffin embedded tumors, it is an attractive option when tumor cells fail to ...
... are usually seen before the tumor cells become immortalized and aneuploid which can contribute to the chromosomal instability ... High levels of nuclear cyclin B1 is associated with high tumor grade, larger tumor size and higher metastasis probability, ... "Immune recognition of cyclin B1 as a tumor antigen is a result of its overexpression in human tumors that is caused by non- ... previous work has shown that down regulation of cyclin B1 can lead to tumor regression. A possible treatment option for tumor ...
This instability, defined as frequent changes in chromosomal structure and number, may be the basis of the development of ... While the frequency of chromatin bridges may be greater in tumor cells relative to normal cells, it may not be practical to ... and chromosomal instability in head and neck tumours with dysfunctional telomeres". British Journal of Cancer. 87 (2): 202-7. ... As a result, several forms of chromosomal aberrations occur, including, but not limited to, binucleated cells, multipolar ...
DCC would fall into the chromosomal instability category. The chromosomal region of 18q has shown consistent LOH for nearly ... This increase in DCC loss in advanced cancer may indicate that DCC loss is more important to tumour progression than tumour ... The first was a chromosomal instability pathway thought to be responsible for the adenoma to carcinoma progression, which was ... Loss of DCC in colorectal cancer primarily occurs via chromosomal instability, with only a small percent having epigenetic ...
The events that lead to genome instability occur in the cell cycle prior to mitosis, specifically in the S phase. Disturbance ... The two processes that are responsible for damage to the S phase are oncogenic activation and tumor suppressor inactivation. ... to this phase can generate negative effects, such as inaccurate chromosomal segregation, for the upcoming mitotic phase. ... Normal replication stress occurs at low to mild levels and induces genomic instability, which can lead to tumorigenesis and ...
Tumor cells arise from two distinct classes of genomic instability: mutational instability arising from changes in the ... Chromosomal instability resulting from dysfunctional caretaker genes is the most common form of genetic instability that leads ... Michor, F; Iwasa, Y; Komarova, N. L.; Nowak, M. A. (2003). "Local regulation of homeostasis favors chromosomal instability". ... a tumor suppressor that is consistently found to be mutated in colorectal tumors. Gatekeeper genes are in fact specific to the ...
... chromosomal instability, Barrett's oesophagus and oesohago-gastric carcinoma, cell fate and cancer, lung tumour evolution, ... cancer metabolism, lymphatics and the tumour microenvironment, and cancer metastasis. MRC CU website About Us section MRC CU ...
Genomic instability is one of the hallmarks of cancer cells and promotes genetic changes (both large chromosomal changes as ... p53 acts to prevent the propagation of tumor cells and is considered a major tumor suppressor protein. p53 works by either ... in cancer cells which can lead to increased levels of tumor progression through genetic variation in the tumor cell. Cancers ... Tumors cells often have inactivated the machinery that is required for apoptosis such as the p53 protein. This is usually ...
... evolution of tumor cells, bacterial populations or stem cells, chromosomal instability, drug resistance, and conformation ... Applicability to pathogenic cellular elements is a real possibility, and lethal mutagenesis to control tumor cells is an active ...
... and chromosomal instability in tumor growth and spread. Sager was one of the first people to emphasize the importance of such ... She identified over 100 potential tumor suppressor genes and performed extensive research into a specific tumor suppressor gene ... Her second career began in the early 1970s and was in cancer genetics; she proposed and investigated the roles of tumor ... Her research there focused on the genetic and molecular causes of cancer, including investigation of the roles of tumor ...
LRP1b which is a large tumor-suppressor gene with brain-specific expression and also maps to an unstable chromosomal fragile ... The large gene instability hypothesis puts the DNA damage mechanism at the center of Alzheimer's disease pathophysiology. ... These genes are also highly enriched in cell adhesion Gene Ontology (GO) terms and often map to chromosomal fragile sites. The ... Soheili-Nezhad S (2017). "Alzheimer's disease: the large gene instability hypothesis". bioRxiv. doi:10.1101/189712. Smith DI, ...
... high chromosomal instability can act as a tumor-suppressing mechanism by leading to cell death. Therefore, the significant ... While many tumor cells in general accumulate mutations in genomic instability that enable them to have a growth advantage in ... McGranahan N, Burrell RA, Endesfelder D, Novelli MR, Swanton C (June 2012). "Cancer chromosomal instability: therapeutic and ... The instability and drop in TPX2 at mitotic exit is dependent on both the anaphase-promoting complex/cyclosome (APC/C) and an ...
Signature 6, seen in tumors with microsatellite instability, also features enrichment of 1bp indels in nucleotide repeat ... In the absence of homologous recombination, non-homologous end joining leads to large structural variants such as chromosomal ... of a tumor is obtained, there are two approaches to decipher the contributions of different mutational signatures to tumor ... the phrase referred to a pattern of mutations characteristic of a tumor type, although usually not unique to the tumor type nor ...
... whilst chromosomal instability and in vivo suppression are concurrent with a prolonged expression. Multiple miR-744 binding ... miR-744 plays a role in tumour development and growth in mouse cell lines. Its expression induces cyclin B1 expression, whilst ...
March 2012). "ChIP sequencing of cyclin D1 reveals a transcriptional role in chromosomal instability in mice". The Journal of ... Narasimha AM, Kaulich M, Shapiro GS, Choi YJ, Sicinski P, Dowdy SF (June 2014). "Cyclin D activates the Rb tumor suppressor by ... April 2015). "Kinase-independent role of cyclin D1 in chromosomal instability and mammary tumorigenesis". Oncotarget. 6 (11): ... induction of chromosomal instability, restraint of autophagy and potentially non-canonical functions. Overexpression is induced ...
CANINE LATENT PAPILLOMAVIRUS INFECTION AND CHROMOSOMAL INSTABILITY STUDIES IN PERIPHERAL BLOOD LYMPHOCYTES AND TUMORS CELLS ... Canine latent papillomavirus infection and chromosomal instability studies in peripheral blood lymphocytes and tumors cells ... To investigate the chromosomal fragility, we researched by cytogenetic technique in the peripheral blood lymphocytes cultures ... and in the tumors cells cultures from canines presenting oral and cutaneous warts lesions. The histological examinations of the ...
... is a rare autosomal recessive condition of chromosomal instability that is clinically characterized by microcephaly, a distinct ... Lymphoid origin, acute myeloid leukemia, solid tumors. Chromosomal Instability. Breakages, including 7/14 rearrangements ... A new chromosomal instability disorder: the Nijmegen breakage syndrome. Acta Paediatr Scand. 1981 Jul. 70 (4):557-64. [QxMD ... A new chromosomal instability disorder confirmed by complementation studies. Clin Genet. 1988 Jan. 33(1):20-32. [QxMD MEDLINE ...
Gastric hepatoid adenocarcinomas are a genetically heterogenous group; most tumors show chromosomal instability, but MSI tumors ... Gastric hepatoid adenocarcinomas are a genetically heterogenous group; most tumors show chromosomal instability, but MSI tumors ... Gastric hepatoid adenocarcinomas are a genetically heterogenous group; most tumors show chromosomal instability, but MSI tumors ... Gastric hepatoid adenocarcinomas are a genetically heterogenous group; most tumors show chromosomal instability, but MSI tumors ...
Cell Line, Tumor * Centrosome / drug effects * Centrosome / ultrastructure * Chromosomal Instability* / drug effects ... Prostate-specific membrane antigen associates with anaphase-promoting complex and induces chromosomal instability Mol Cancer ...
"Centrosome amplification drives chromosomal instability in breast tumor development". Proc Natl Acad Sci USA. 99 (4): 1978-1983 ... Nevertheless, it is clear that the presence of an excess of centrosomes is a common event in human tumors. It has been observed ... The presence of an inadequate number of centrosomes is very often linked to the appearance of genome instability and the loss ... This initial observation was subsequently extended to many types of human tumors. Centrosome alterations in cancer can be ...
Winter and colleagues demonstrate that metabolic adaptation to nutrient stress in the tumor microenvironment of pancreatic ... dramatically inhibited tumor growth in preclinical models of pancreatic cancer, highlighting this approach as a potential ... Nutrient-deprived conditions in the tumor microenvironment (TME) restrain cancer cell viability due to increased free radicals ... Trp53R172H and KrasG12D cooperate to promote chromosomal instability and widely metastatic pancreatic ductal adenocarcinoma in ...
... and tumors with chromosomal instability showing aneuploidy and amplifications of genes encoding receptor tyrosine kinases, the ... tumors with microsatellite instability with high mutation rates; genomically stable tumors enriched for diffuse histological ... These 80 tumors included 74 diffuse, three intestinal, two mixed type, and one inflammatory myoblastic tumor. For each patient ... They noted that the tumors in subtype 2 show strong immune activity that may contribute to a good prognosis and that the tumors ...
Chromosomal Instability as a Driver of Tumor Heterogeneity and Evolution. Samuel F. Bakhoum and Dan Avi Landau. The Role of ... Tumor progression is driven by mutations that confer growth advantages to different subpopulations of cancer cells. As a tumor ... Tumor Microenvironment and Differential Responses to Therapy. Eishu Hirata and Erik Sahai. Reengineering the Tumor ... understand the roles of chromosomal instability, driver mutations, and mutation order, and determine how cancer cells respond ...
R. Mathew, S. Kongara, B. Beaudoin et al., "Autophagy suppresses tumor progression by limiting chromosomal instability," Genes ... the role of autophagy in tumor development is not fully understood and clearly differs among tumor types and the stage of tumor ... Moreover, genome instability was attributed to impaired autophagy and several autophagy genes with tumor suppressor functions ( ... M. Humbert, E. A. Federzoni, A. Britschgi et al., "The tumor suppressor gene DAPK2 is induced by the myeloid transcription ...
Eden A, Gaudet F, Waghmare A, Jaenisch R. Chromosomal instability and tumors promoted by DNA hypomethylation. Science. 2003;300 ... Acts as a tumor suppressor in many tumor types, involved in cell cycle regulation. ... Gaudet F, Hodgson JG, Eden A, Jackson-Grusby L, Dausman J, Gray JW, Leonhardt H, Jaenisch R. Induction of tumors in mice by ... The tumor-selective over-expression of the human Hsp70 gene is attributed to the aberrant controls at both initiation and ...
Chromosomal instability from HBV integrated DNA; (2) Insertional mutagenesis in proto-oncogenes and tumor suppressors; and (3) ... Chromosomal rearrangements and gene copy number variations also contribute to chromosomal instability and are present in the ... However, in CHB-HCC patients, HBV integration can be enriched in certain areas to cause chromosomal instability through ... Loss of p53 activity leads to genome instability and the deregulation of tumor suppressors[47]. ...
Sheffer M, Bacolod MD, Zuk O, et al: Association of survival and disease progression with chromosomal instability: a genomic ... Alon U, Barkai N, Notterman DA, et al: Broad patterns of gene expression revealed by clustering analysis of tumor and normal ... Lin YM, Furukawa Y, Tsunoda T, Yue CT, et al: Molecular diagnosis of colorectal tumors by expression profiles of 50 genes ... Tissue samples were taken from the tumor and from normal adjacent mucosa during both colonoscopy and surgery. RNA was extracted ...
Trp53R172H and KrasG12D cooperate to promote chromosomal instability and widely metastatic pancreatic ductal adenocarcinoma in ... A, Fold change in primary tumor volume, calculated as endpoint tumor volume/baseline tumor volume, is shown. Mice were ... A, Fold change in primary tumor volume, calculated as endpoint tumor volume/baseline tumor volume, is shown. Mice were ... 6A and B), is generally high in a tumor from one mouse, the expression of the other protein tends to be low in the tumor from ...
... and endocrine and nonendocrine tumors. (See Pathophysiology, Etiology, and Clinical Presentation. ... Carney complex genes are associated with genomic instability; cell lines established from Carney complex tumors accumulate ... chromosomal changes, including telomeric associations and dicentric chromosomes.. A variant form of Carney complex associated ... testicular Sertoli-cell tumors; and, possibly, other benign and malignant neoplasms and conditions, including tumors of the ...
... accompanied by signs of chromosomal instability [25]. Accordingly, we assumed that chromosomal instability caused by telomere ... Macroscopic tumor formation was assessed in view of overall tumor area along the SCJ and size of individual tumors at an early ... EAC shows a remarkable resemblance to chromosomal instability (CIN) gastric cancer, which is also characterized by chromosomal ... This scoring system encompasses tumor area, individual tumor size and total tumor size. Mouse tissues were fixed in formalin ...
EGFRvIII expression and PTEN loss synergistically induce chromosomal instability and glial tumors. Neuro Oncol. 2009 Feb; 11(1 ... Wnt5a inhibits B cell proliferation and functions as a tumor suppressor in hematopoietic tissue. Cancer Cell. 2003 Nov; 4(5): ... Endemic Burkitt lymphoma avatar mouse models for exploring inter-patient tumor variation and testing targeted therapies. Life ...
Samuel F. Bakhoum, MD, PhD will present about chromosomal instability and tumor evolution during the plenary on Saturday, April ... In addition to the exciting work from MSK being presented, Luis Alberto Diaz Jr., MD, Head of the Division of Solid Tumor ... tumor biology, drug development, experimental and molecular therapeutics, molecular and cellular biology, genetics and more. ...
... chromosomal instability. Common in solid tumors. Examples of hypomethylated sequences are LINEs, c-MYC, H-RAS. ... Solid tumors release cells and DNA fragments into the blood stream and these can be used as surrogate markers for metastatic ... Gene promoter-specific hypermethylation initiates loss of function (gene inactivation) of tumor suppressor genes due to ... Sophisticated techniques detecting methylated DNA sequences or tumor cells allow studying methylation profiles and possible ...
Notably, patients with mismatch-repair deficiency/microsatellite instability-high tumors had higher levels of IC-expressing ... Our findings highlight differential expression of ICs on lymphoid cells in CRC tumors in the era of cancer immunotherapy, which ... double negative T cells were significantly lower in CRC tumors. ... for anti-PD-1 therapy in patients with dMMR/MSI-H tumors. ... CD4+ and CD8+ T cells than patients with proficient MMR and microsatellite stable tumors. Lastly, The Cancer Genome Atlas Colon ...
... and RIP140 expression in a subset of tumors with microsatellite instability that exhibit fewer losses or gains of chromosomal ... Such areas with karyolysis were significantly smaller in HCT-GFP tumors than those in the HCT-RIP tumors (14.4% ± 8.1% and 45.6 ... The tumor-prone ApcΔ14/+ mouse strain was obtained from C. Perret (Institut Cochin, Paris, France) (5). These mice bear a ... We then assessed the impact of RIP140 on tumor growth in vivo by testing the ability of HCT-GFP and HCT-RIP cells grafted s.c. ...
... is termed malignant triton tumor (MTT), a rare neoplasm that poses a diagnostic dilemma in the differential diagnosis of neck ... Rhabdomyoblastic differentiation in a malignant peripheral nerve sheath tumor (MPNST) ... "Chromosomal aberrations and microsatellite instability of malignant peripheral nerve sheath tumors: a study of 10 tumors from ... Reports of tumors in noticeable sites aid in the its early diagnosis and excision while the tumor is still small leading to a ...
Candidate tumor suppressor genes were selected when alterations were detected in both germline and somatic DNA, fulfilling ... An integrated analysis of germline and tumor whole-exome sequencing data was performed in 18 unrelated CRC families. ... such us chromosomal instability (linked to a high number of CNVs and aneuploidy instead of SNVs). Interestingly, our study ... Its effect on CRC was described using cell lines and tumor xenografts and allografts, where an oncogene role promoting tumor ...
On-going chromosomal instability, manifested as Mirrored Subclonal Allelic Imbalance (MSAI) is found to be a major driver of ... in solid tumors many factors in the hypoxic tumor microenvionment exist that counteract efficient NK cell anti-tumor activity. ... Multiple adaptive mechanisms to neo-antigen evolution have been found in TRACERx highlighting cancer chromosomal instability ... A 50% decrease in tumor burden was observed by targeting CD47 in a syngeneic B16 melanoma model due to increased tumor oxygen ...
This chromosomal instability causes cancer cells to stress out. When they are stressed, it could lead to metabolic disruption. ... How Tumor Cells Get Stressed. Research has shown that a tumor is usually not made up of identical cells. When someone goes ... The Tumor Micro Environment Plays a Role in the Spread of Liver Cancer. January 19, 2015. heavy ... Tumor Studies. Despite recent advancements in cancer treatments, hepatocellular carcinoma (HCC) is one of only a few forms that ...
DAndreas focus is the molecular pathogenesis of the human chromosomal instability syndromes: Fanconi anemia (FA), ataxia- ... Departmental research is focused on the treatment of tumors and on increasing the understanding of treatments at the molecular ... The unifying research aim of the department is the understanding of genomic instability in human cancer in order to tailor ... He has developed a range of methodologies for evaluation of tumor-specific genetic changes, such as mutation and methylation. ...
In particular, an increase in chromosomal instability turned up in metastatic forms of lung or prostate adenocarcinomas and in ... "Our work shows that genomic alterations identified in tumor samples can inform our understanding of a tumors potential to ... They also pointed to ties between enhanced chromosomal instability and metastatic burden, particularly in certain cancer types. ... In contrast to prior studies that centered on either primary or metastatic tumors as a group, the team set out to characterize ...
... chromosomal instability (CIN) and epigenetic instability (CIMP) are the three major causes of genetic instability resulting CRC ... Ratovitski, E. A. (2016). Tumor Protein (TP)-p53 Members as Regulators of Autophagy in Tumor Cells upon Marine Drug Exposure. ... Hypoxia is a hallmark of solid tumors and has been linked to the angiogenesis and related factors such as HIF-1 and VEGF in ... The formation of new blood vessels in hypoxic areas of solid tumor cells, such as colon cancer, will lead to better nutrition ...
Genome doubling and ongoing dynamic chromosomal instability were associated with intratumor heterogeneity and resulted in ... However, tumor response to BRAF/MEK inhibition, though rapid, is often short-lived as tumors develop resistance to this ... During the process of tumor dissemination, Ca2+ participates in the. invasion of healthy tissues by tumor cells with in ... the growth, invasion and tumor metastasis. Inhibition of T-type. calcium channels by mibefradil [17] or NecroX-5 [18] can ...
... it is unclear whether ecDNA is a later manifestation of genomic instability, or whether it can be an early event in the ... Tolerance of whole-genome doubling propagates chromosomal instability and accelerates cancer genome evolution. Cancer Discov. 4 ... b, Proportion of Cambridge EAC tumour samples with ecDNA separated by tumour stage I versus stage II or higher. ... Genomic signatures of past and present chromosomal instability in the evolution of Barretts esophagus to esophageal ...
  • The unifying research aim of the department is the understanding of genomic instability in human cancer in order to tailor therapies for cancer patients. (dana-farber.org)
  • Kent Mouw, MD, PhD , is using a combination of genomic and functional approaches to study the role of DNA repair pathway alterations in tumor behavior and treatment response. (dana-farber.org)
  • NEW YORK - By profiling genomic and clinical features in tumors from tens of thousands of cancer patients, a team led by investigators at Memorial Sloan Kettering Cancer Center has uncovered features that may help predict a tumor's metastatic potential and organ sites it may affect. (genomeweb.com)
  • Our work shows that genomic alterations identified in tumor samples can inform our understanding of a tumor's potential to metastasize, at least in some cancer types ," senior author Nikolaus Schultz, a researcher at MSKCC, said in an email. (genomeweb.com)
  • With insights from more than 99,400 metastatic events identified in 21,546 metastatic cancer patients, they flagged genomic patterns corresponding to metastases from dozens of cancer types that affected 21 different organs, along with suspicious primary tumor changes in individuals with metastatic disease. (genomeweb.com)
  • In contrast to prior studies that centered on either primary or metastatic tumors as a group, the team set out to characterize integrated genomic and clinical features of metastatic disease in the context of cancer type and anatomic site of metastasis. (genomeweb.com)
  • At present, it is unclear whether ecDNA is a later manifestation of genomic instability, or whether it can be an early event in the transition from dysplasia to cancer. (nature.com)
  • 29 Moreover, a recent study in mice showed that loss of Bard1 results in early embryonic lethality and chromosomal instability, indicating a role of Bard1 in maintenance of genomic integrity. (bmj.com)
  • This branch administers extramural grants for studies in cancer genetics and epigenetics, including regulation of gene expression, mechanisms of DNA damage/repair, genomic instability, and related molecular, cytogenetic, and chromosomal effects during induction and progression to malignancy. (cancer.gov)
  • Mammary tumors lacking p53 display less fibrotic histopathology and increased genomic instability with aneuploidy, amplifications, and deletions, as detected by karyotype analysis and comparative genomic hybridization. (elsevierpure.com)
  • To detect osteosarcoma-specific alterations, we screened transcriptomic and genomic sequencing and copy number data from 150 bone tumors originally diagnosed as osteosarcoma. (bvsalud.org)
  • Nutrient-deprived conditions in the tumor microenvironment (TME) restrain cancer cell viability due to increased free radicals and reduced energy production. (nature.com)
  • The contributors review efforts to characterize the subclonal architecture and dynamics of tumors, understand the roles of chromosomal instability, driver mutations, and mutation order, and determine how cancer cells respond to selective pressures imposed by anticancer agents, immune cells, and other components of the tumor microenvironment. (cshlpress.com)
  • They compare cancer evolution to organismal evolution and describe how ecological theories and mathematical models are being used to understand the complex dynamics between a tumor and its microenvironment during cancer progression. (cshlpress.com)
  • Importantly, immune constituents of the tumor microenvironment (TME) can influence therapy response and cancer progression. (mdpi.com)
  • We hope that [MSK-MET] will be a valuable resource for the community and will stimulate further research and applications in cancer care," the authors wrote, adding that "more integrated studies are needed to fully investigate the impact of tumor cell-extrinsic effects, such as cancer therapy, target-organ microenvironment, and systemic factors. (genomeweb.com)
  • The study also found the metastases may alter macrophages and T cells in the tumor microenvironment, thereby promoting cancer growth, and "adopt a neuronal-like state inside the brain. (scienceboard.net)
  • The Office also fosters emerging topics in basic cancer biology, such as cancer systems biology, physical sciences in oncology, and the tumor microenvironment, in order to facilitate the development of the field. (cancer.gov)
  • This branch supports research in tumor biology, focusing on the interaction of the cancer cell with its microenvironment and how each remodels the other, tumor heterogeneity, and acquisition of aggressive properties. (cancer.gov)
  • Common in solid tumors. (epigenie.com)
  • Solid tumors release cells and DNA fragments into the blood stream and these can be used as surrogate markers for metastatic tumors. (epigenie.com)
  • Compared with other digestive tract solid tumors, HCC is very resistant against cytotoxic drugs with overexpression of several important proteins responsible of detoxification, including dihydropyrimidine dehydrogenase and multidrug-resistance proteins. (biomedcentral.com)
  • However, for solid tumors or more organ-specific diseases, cfDNA or RNA is typically much more informative. (frontagelab.com)
  • Tumor progression is driven by mutations that confer growth advantages to different subpopulations of cancer cells. (cshlpress.com)
  • Our data offer a valuable resource for the investigation of the biological basis for metastatic spread and highlight the complex role of chromosomal instability in cancer progression," the authors wrote. (genomeweb.com)
  • By integrating genetic, epigenetic, and functional analyses at the single cell level, we show that progression of uveal melanoma (UM), the most common intraocular primary cancer in adults, is driven by loss of Polycomb Repressive Complex 1 (PRC1) in a subpopulation of tumor cells. (escholarship.org)
  • Thus, deregulation of PRC1 can promote tumor progression by inducing CIN and represents an opportunity for early therapeutic intervention. (escholarship.org)
  • The development and progression of tumors is taught on a molecular genetic and cell biological basis. (tum.de)
  • How does chromosomal instability drive tumor progression? (biomedcentral.com)
  • Zhang X, Li J. Era of universal testing of microsatellite instability in colorectal cancer. (wjgnet.com)
  • One of the important molecular/genetic findings is the presence of microsatellite instability (MSI) in CRCs. (wjgnet.com)
  • Tumor mutational burden and microsatellite instability can also be determined. (frontagelab.com)
  • and tumors with chromosomal instability showing aneuploidy and amplifications of genes encoding receptor tyrosine kinases, the researchers said. (genomeweb.com)
  • Chromosomal instability and aneuploidy are not only symptoms of cancer cells, they can directly cause or enhance cancer formation, as they create dosage imbalances between oncogenes and tumour suppressors, and contribute to the development of cancer drug resistances. (unige.ch)
  • Gains and losses of whole chromosomes, termed aneuploidy , is seen in at least half of all tumors. (lu.se)
  • We use large-scale sequencing and array-based analyses of bulk and single cells as well as experimental systems to understand whether aneuploidy is always associated with chromosomal instability (CIN) and to delineate the pathways by which aneuploidy arise. (lu.se)
  • By addressing these questions, we will get novel insight into how aneuploidy affect tumor cells that may be used to develop novel therapies and improve treatment stratification. (lu.se)
  • Centrosome alterations in cancer can be divided in two subgroups - i.e., structural or numeric aberrations - yet both can be found simultaneously in a tumor. (wikipedia.org)
  • The team's results revealed alterations that were relatively common in certain cancer types or in metastatic tumors springing up at specific target sites. (genomeweb.com)
  • Chromosomal instability (CIN) and epigenetic alterations are characteristics of advanced and metastatic cancers 1-4 , but whether they are mechanistically linked is unknown. (escholarship.org)
  • It is most often detected in children and adolescents and is commonly associated with TP53 alterations along with a high number of chromosomal rearrangements. (bvsalud.org)
  • Among the plethora of mutations identified, we found genetic alterations characteristic for, or similar to, those of other bone and soft tissue tumors in eight cases. (bvsalud.org)
  • These mutations were found in tumors with relatively few other genetic alterations and/or affecting adults. (bvsalud.org)
  • Our findings, however, support the notion that osteosarcomas with few chromosomal alterations and/or affecting adults seem genetically distinct from conventional osteosarcomas of children and adolescents. (bvsalud.org)
  • Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. (bvsalud.org)
  • In addition, these alterations affect 3 principal categories of genes, as follows: proto-oncogenes, tumor suppressor genes, and DNA repair genes. (medscape.com)
  • Rare malignant tumors require resection, as well as, possibly, adjunctive therapy and referral to an oncologist. (medscape.com)
  • Rhabdomyoblastic differentiation in a malignant peripheral nerve sheath tumor (MPNST) is termed malignant triton tumor (MTT), a rare neoplasm that poses a diagnostic dilemma in the differential diagnosis of neck masses and portends poor prognosis. (hindawi.com)
  • Malignant peripheral nerve sheath tumor (MPNST) is a rare soft tissue neoplasm with a poor prognosis. (hindawi.com)
  • Tumors with skeletal muscle differentiation and malignant Schwann cells are classified as a subtype or a histologic variant of MPNST [ 9 , 10 ] and are referred to as malignant triton tumor (MTT) [ 11 ]. (hindawi.com)
  • The biological role and underlying mechanism of action of zinc-finger protein 326 (ZNF326) in malignant tumors, including breast cancer, are still not clear. (cancerindex.org)
  • Aplastic anemia due to the progressive failure of the bone marrow, malignant neoplasias such as acute myeloid leukemia, liver tumors and squamous cell carcinoma are some of the possible evolutions of Fanconi Anemia. (bvsalud.org)
  • Inactivation of tumor suppressor genes, whose products normally provide negative control of cell proliferation, contributes to malignant transformation in various cell types. (medscape.com)
  • The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. (biomedcentral.com)
  • The Cancer Genome Atlas Research Network classified gastric adenocarcinoma into four molecular subtypes: (1) Epstein-Barr virus-positive (EBV), (2) microsatellite-instable (MSI), (3) chromosomal instable (CIN), and (4) genomically stable (GS). (elsevierpure.com)
  • MSK physicians and scientists are involved in notable research to be presented at the meeting and are available to comment on topics including clinical trials, immunotherapy, tumor biology, drug development, experimental and molecular therapeutics, molecular and cellular biology, genetics and more. (mskcc.org)
  • Departmental research is focused on the treatment of tumors and on increasing the understanding of treatments at the molecular and cellular levels. (dana-farber.org)
  • D'Andrea's focus is the molecular pathogenesis of the human chromosomal instability syndromes: Fanconi anemia (FA), ataxia-telangiectasia, and Bloom syndrome. (dana-farber.org)
  • We hypothesized that molecular profiling of tumors can provide useful information to investigate these questions. (genomeweb.com)
  • Together with molecular data across 341 to 468 cancer genes profiled with the MSK-IMPACT clinical sequencing assay , these insights made it possible to compare molecular features found in tumors from primary or metastatic sites in individuals with or without metastases. (genomeweb.com)
  • BACKGROUND AND PURPOSE: Studies by molecular biologists and geneticists have shown that tumors of human colon cancer are developed from colon stem cells through two mechanisms: The chromosomal instability and the micro-satellite instability. (sutterhealth.org)
  • After successful completion of the module, students will have in-depth knowledge of cell biology and molecular biology from all aspects of tumor biology. (tum.de)
  • Nijmegen breakage syndrome (NBS) is a rare autosomal recessive condition of chromosomal instability that is clinically characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity, and a strong predisposition to lymphoid malignancy. (medscape.com)
  • Nijmegen breakage syndrome (NBS) is also an autosomal recessive chromosomal instability syndrome. (medscape.com)
  • As a tumor grows, these subpopulations expand, accumulate new mutations, and are subjected to selective pressures from the environment, including anticancer interventions. (cshlpress.com)
  • 11- 13 The finding of breast cancer associated mutations within the RING finger domain of BRCA1 , disrupting BRCA1/BARD1 interaction, 11, 14 and the occurrence of BARD1 missense mutations in breast cancer patients, 15- 17 implies participation of BARD1 in BRCA1 mediated tumour suppression. (bmj.com)
  • In studies reported at this meeting, biomarker-driven matches were made for patients with colorectal cancer who had HER2 amplifications (and received trastuzumab plus pertuzumab), BRAF V600E mutations (and received cobimetinib p lus vemurafenib), or high tumor mutational burdens (and were treated with pembrolizumab). (ascopost.com)
  • As they reported in Cell on Thursday, the researchers analyzed targeted panel sequence data for 15,632 primary and 10,143 metastatic tumors from a total of 25,755 metastatic cancer patients in the MSK-MET cohort, including patients who had matched primary and metastatic tumor samples sequenced. (genomeweb.com)
  • Even though most cancer deaths are due to metastatic disease, predicting whether or not an early-stage tumor will metastasize - as well as what organs will be eventually affected by metastases - remains a formidable challenge," Schultz explained. (genomeweb.com)
  • They also pointed to ties between enhanced chromosomal instability and metastatic burden, particularly in certain cancer types. (genomeweb.com)
  • In particular, an increase in chromosomal instability turned up in metastatic forms of lung or prostate adenocarcinomas and in hormone receptor- and HER2-positive breast carcinomas originating in the duct, the researchers reported. (genomeweb.com)
  • MSK investigators are now gearing up to do related research focused on treatments that target metastatic tumor drivers through the newly-funded Marie- Jos é e and Henry R. Kravis Cancer Ecosystems Project. (genomeweb.com)
  • This branch plans, develops, and directs the Division's research program in tumor metastasis, focusing on mechanisms of metastasis and metastatic niches, circulating tumor cells, dormancy, and angiogenesis and vasculogenesis. (cancer.gov)
  • To investigate the chromosomal fragility, we researched by cytogenetic technique in the peripheral blood lymphocytes cultures and in the tumors cells cultures from canines presenting oral and cutaneous warts lesions. (fiocruz.br)
  • Although chromosomal instability is a major driver of tumour evolution, its role in metastasis has not been established. (escholarship.org)
  • Here we show that chromosomal instability promotes metastasis by sustaining a tumour cell-autonomous response to cytosolic DNA. (escholarship.org)
  • Genetic suppression of chromosomal instability markedly delays metastasis even in highly aneuploid tumour models, whereas continuous chromosome segregation errors promote cellular invasion and metastasis in a STING-dependent manner. (escholarship.org)
  • In the CIN/GS group, most of the tumors (59%) had either p53 overexpression or TP53 mutation and a coexisting tubular intestinal-type adenocarcinoma component (90%), suggesting that most hepatoid adenocarcinomas should be categorized as a true CIN group. (elsevierpure.com)
  • E6 associates with host E6-AP ubiquitin-protein ligase, and inactivates tumor suppressors TP53 and TP73 by targeting them to the 26S proteasome for degradation. (joplink.net)
  • [ 2 ] Targeted disruption of TP53 in the mouse leads to the development of various tumors (see image below). (medscape.com)
  • Global hypomethylation leads to activation of oncogenes, transposition of repetitive elements, chromosomal instability. (epigenie.com)
  • This article briefly discusses tumor suppressor genes and then focuses on the role of proto-oncogenes in childhood cancer. (medscape.com)
  • He has developed a range of methodologies for evaluation of tumor-specific genetic changes, such as mutation and methylation. (dana-farber.org)
  • An important development in cancer research over the past 2 decades has been the recognition that genetic changes drive the pathogenesis of tumors of both adulthood and childhood. (medscape.com)
  • It is unclear whether these genetic changes play a role in mycosis fungoides, although the tendency to acquire chromosome abnormalities (chromosomal instability) is a feature of many cancers. (medlineplus.gov)
  • [ 1 ] His prediction was subsequently supported by the cloning of the retinoblastoma tumor suppressor gene ( RB1 ) and by functional studies of the retinoblastoma protein, Rb. (medscape.com)
  • Our group investigates the fundamental mechanisms of cell division ensuring faithful chromosome segregation in human cells, how a deregulation of these mechanisms contribute to genetic instability in cancer cells, and how this erroneous process can reveal new targets for anti-cancer treatments or be exploited by novel anti-cancer drugs. (unige.ch)
  • Dr. Multani has extensive expertise in the field of Human and Mammalian Cytogenetics, and specializes in the evaluation of genetic instability and complex chromosomal rearrangements in cancer cells, telomere dysfunction, characterization of embryonic stem cells, and authentication of cell lines. (mdanderson.org)
  • Further investigations revealed that in vitro cells derived from patients with Nijmegen breakage syndrome display characteristic abnormalities similar to those observed in ataxia-telangiectasia (A-T) , including spontaneous chromosomal instability, sensitivity to ionizing radiation (IR), and radioresistant DNA synthesis (RDS). (medscape.com)
  • About 3-5 % of cases with additional chromosomal abnormalities. (biomedcentral.com)
  • Most affected individuals have one or more chromosomal abnormalities, such as the loss or gain of genetic material. (medlineplus.gov)
  • Flow cytometry analysis of tumor infiltrating T-cells in a murine model of PDAC was performed to investigate the therapeutic effects and mechanism of anti-CSF-1R/anti-PD-1/GVAX combination immunotherapy. (bmj.com)
  • Moura-Castro LH, Peña-Martínes P, Castor A, Galeev R, Larsson J, JärÃ¥s M, Yang M, Paulsson K. Sister chromatid cohesion defects are associated with chromosomal copy number heterogeneity in high hyperdiploid childhood acute lymphoblastic leukemia. (lu.se)
  • NBS is characterized by microcephaly with growth retardation, normal or impaired intelligence, birdlike facies, increased susceptibility to infection, humoral and cellular immunodeficiency, and high risk for lymphatic tumor development. (medscape.com)
  • The chromosomal instability seen in the brain metastases "triggers signaling pathways that make cells more likely to spread and better able to suppress the body's immune response," said Dr. Johannes Melms, one of the study's first authors, in a statement . (scienceboard.net)
  • By subverting lethal epithelial responses to cytosolic DNA, chromosomally unstable tumour cells co-opt chronic activation of innate immune pathways to spread to distant organs. (escholarship.org)
  • The researchers collected paired tumor and adjacent normal tissues, as well as blood samples, from 80 patients with EOGCs under 45 years of age. (genomeweb.com)
  • For each patient, the team performed exome sequencing of the tumors and peripheral blood mononuclear cells, as well as mRNA sequencing of the paired tumor and adjacent normal tissues. (genomeweb.com)
  • The researchers also performed global proteome, phosphoproteome, and N-glycoproteome profiling of paired tumor and adjacent normal tissues using liquid chromatography-tandem MS analyses. (genomeweb.com)
  • 22, 23 The significance of BARD1/BRCA1 collaboration has also been emphasised by studies of its ubiquitin ligase activity that might contribute to tumour suppression and other biological functions of BRCA1. (bmj.com)
  • This section publishes research on the variety and impact of chromosomal aberrations on all types of human cancer. (biomedcentral.com)
  • In patients with a history of low-grade Ta disease and a noted sub-centimeter papillary tumor(s), consider in-office fulguration as an alternative to resection under anesthesia. (medscape.com)
  • One theory is that it may have arisen as the timeframe believed to be required for healing after tumor resection. (medscape.com)
  • Types of molecules that can be analyzed in liquid biopsy samples include lipids, carbohydrates, small biomolecules, proteins, circulating nucleic acids, or tumor cells. (frontagelab.com)
  • Like Rb protein, many of the proteins encoded by tumor suppressor genes act at specific points in the cell cycle. (medscape.com)
  • Gene promoter-specific hypermethylation initiates loss of function (gene inactivation) of tumor suppressor genes due to promoter CpG island methylation. (epigenie.com)
  • For a more comprehensive and unbiased proteomic characterization, the Clinical Proteomic Tumor Analysis Consortium performed mass spectrometry-based proteomic and/or phosphoproteomic analyses of tumor tissues from patients with colon, breast, and ovarian cancers, which demonstrated that proteomic signatures can provide information that can further stratify patients. (genomeweb.com)
  • The methylation specific polymerase chain reaction in conjunction with sequencing verification was used to establish the methylation patterns of the 14 genes in the liver tissues of four healthy liver donors, as well as tumor and the paired non-cancerous tissues of 30 HCC patients. (wjgnet.com)
  • Both glutathione S-transferase pi ( GSTpi ) (80%, 24/30 in tumor and 56.7%, 17/30 in the paired non-cancerous tissues) and cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7) ( CFTR ) (77%, 23/30 in tumor and 50%, 15/30 in the paired non-cancerous tissues) genes were prevalently hypermethylated in HCC as well as their neighboring non-cancerous tissues. (wjgnet.com)
  • Furthermore, the Food & Drug Administration (FDA)-approved mIDH1 inhibitor ivosidenib (AG-120) dramatically inhibited tumor growth in preclinical models of pancreatic cancer, highlighting this approach as a potential therapeutic strategy against wild-type IDH1 cancers. (nature.com)
  • These unique features of ecDNAs contribute to aggressive tumour growth, accelerated evolution and resistance to treatment. (nature.com)
  • The authors also discuss improved methods to monitor tumor evolution (e.g., liquid biopsies) and the development of more effective strategies for managing and treating cancers (e.g., immunotherapies). (cshlpress.com)
  • On the other hand, they found that high-grade serous ovarian or colorectal cancers were more often marked by copy number changes linked to relatively early stages in the tumor development process. (genomeweb.com)
  • These cancers were also less likely to show metastases-associated chromosomal stability. (genomeweb.com)
  • This gene is located within a chromosomal region that shows loss of heterozygosity in some bladder cancers. (cancerindex.org)
  • Another important class of tumor suppressor genes involved in cell cycle control and in the generation of human cancers is the cyclin-dependent kinase (CDK) inhibitors. (medscape.com)
  • GVAX also upregulates the PD-1/PD-L1 pathway, and a pre-clinical model demonstrated the anti-tumor effects of combination GVAX and anti-PD-1 antibody therapy (GVAX/αPD-1). (bmj.com)
  • This provokes tumor cell-intrinsic inflammatory signaling, mediated by aberrant activation of the cGAS-STING pathway. (escholarship.org)
  • Herein, we also demonstrate that compounds developed to target mutant IDH1 can be repurposed as wild-type IDH1 inhibitors, because these drugs surprisingly become potent inhibitors of wtIDH1 in cancer cells under conditions present in tumors: specifically, we found that wtIDH1 is critical for PDAC cell survival under low-glucose conditions, and allosteric IDH inhibitors effectively block wtIDH1 activity under low magnesium. (nature.com)
  • Sophisticated techniques detecting methylated DNA sequences or tumor cells allow studying methylation profiles and possible prognostic factors in various types of cancer. (epigenie.com)
  • We found that the levels of B cells, T cells, and NK cells were similar, IC-expressing CD4 + and CD4 + CD8 + double positive T cells were higher, while CD8 + T cells and CD4 − CD8 − double negative T cells were significantly lower in CRC tumors. (mdpi.com)
  • These tumors are thought to arise from Schwann cells, their precursors, or a preexisting NF-1 [ 4 ]. (hindawi.com)
  • The first was that Schwann cells in neurogenic tumor could be stimulated by motor nerve to differentiate into rhabdomyoblastic component. (hindawi.com)
  • About half of the tumors arising in p53 heterozygotes exhibit loss of the normal p53 allele, implying selection for p53-deficient cells. (elsevierpure.com)
  • These changes can be inherited and are, therefore, found in every cell, but more often, they are somatically acquired and restricted to tumor cells. (medscape.com)
  • The tumors in mycosis fungoides, which are composed of cancerous T cells, are raised nodules that are thicker and deeper than plaques. (medlineplus.gov)
  • Optionally, a research internship (at least 6 weeks per 40 hours) in the field of tumor biology can be taken. (tum.de)
  • In the written exam, the students show whether they are able to structure the knowledge they have acquired in tumor biology and present the essential aspects. (tum.de)
  • In the majority of reported cases, triton tumors are located across peripheral nerves, usually close to the spine, in the head and neck region, or in the upper and lower extremities [ 16 ]. (hindawi.com)
  • Whole genome sequencing is used mainly for the detection of major chromosomal rearrangements, deletions, and hypomethylation. (frontagelab.com)
  • This process, termed clonal evolution, can lead to the emergence of therapy-resistant tumors and poses a major challenge for cancer eradication efforts. (cshlpress.com)
  • Samuel F. Bakhoum, MD, PhD will present about chromosomal instability and tumor evolution during the plenary on Saturday, April 10 from 10:05-10:27 a.m. (mskcc.org)
  • Gerassimos (Mike) Makrigiorgos, PhD , is studying the identification and tracing of tumor signatures in cancer samples. (dana-farber.org)
  • In turn, DNA damage and chromosomal instabilities increase and lead to cell proliferation and cancer development. (joplink.net)
  • Chromosomal instability is a hallmark of cancer that results from ongoing errors in chromosome segregation during mitosis. (escholarship.org)
  • Comparing the brain and extracranial samples revealed differences in chromosomal stability, a term that describes the gain and loss of large chromosomal fragments. (scienceboard.net)
  • Autophagy functions in tumor suppression by, for example, preserving protein and organelle homeostasis. (hindawi.com)
  • These findings favor a model in which p53 deficiency relaxes normal restraints on chromosomal number and organization during tumorigenesis. (elsevierpure.com)
  • This initial observation was subsequently extended to many types of human tumors. (wikipedia.org)
  • In conclusion, our studies suggest that shortened telomeres are functionally important for tumor development in a mouse model of BE and are associated with proliferating columnar epithelium in human BE. (oncotarget.com)
  • Although carcinogenic roles for the INK4B, INK4C, INK4D, CIP1, KIP1, and KIP2 genes appear to be limited, INK4A is among the most commonly mutated genes in human tumors. (medscape.com)