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.
Recurring supersecondary structures characterized by 20 amino acids folding into two alpha helices connected by a non-helical "loop" segment. They are found in many sequence-specific DNA-BINDING PROTEINS and in CALCIUM-BINDING PROTEINS.
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).
Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations.
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.
A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION.
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.
Mapping of the KARYOTYPE of a cell.
A method of tissue ablation and bleeding control that uses ARGON plasma (ionized argon gas) to deliver a current of thermocoagulating energy to the area of tissue to be coagulated.
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.
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)
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).
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.
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.
The degree of replication of the chromosome set in the karyotype.
The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc.
A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations.
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.
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.
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.
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.
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.
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)
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.
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.
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.
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.
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.
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.
DNA present in neoplastic tissue.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.
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.)
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.
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.
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.
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).
An essential ribonucleoprotein reverse transcriptase that adds telomeric DNA to the ends of eukaryotic CHROMOSOMES.
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 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.
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.
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.
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.
The chromosomal constitution of cells, in which each type of CHROMOSOME is represented twice. Symbol: 2N or 2X.
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.
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.
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 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.
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.
A cell line derived from cultured tumor cells.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
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.
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.
Interruptions in the sugar-phosphate backbone of DNA, across both strands adjacently.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Large multiprotein complexes that bind the centromeres of the chromosomes to the microtubules of the mitotic spindle during metaphase in the cell cycle.
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.
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.
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.
The phase of cell nucleus division following METAPHASE, in which the CHROMATIDS separate and migrate to opposite poles of the spindle.
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 specific pair of GROUP B CHROMOSOMES of the human chromosome classification.
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.
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.
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.
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.
Established cell cultures that have the potential to propagate indefinitely.
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 process by which the CYTOPLASM of a cell is divided.
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)
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.
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.
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.
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.
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 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.
A situation where one member (allele) of a gene pair is lost (LOSS OF HETEROZYGOSITY) or amplified.
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.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
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.
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)
A Rec A recombinase found in eukaryotes. Rad51 is involved in DNA REPAIR of double-strand breaks.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Pathological processes of the OVARIES or the TESTES.
The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES.
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.
The bovine variety of the tubercle bacillus. It is called also Mycobacterium tuberculosis var. bovis.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
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.
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.
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).
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.
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)
A specific pair of GROUP F CHROMOSOMES of the human chromosome classification.
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.
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.
Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.
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.
Immunologically detectable substances found in the CELL NUCLEUS.
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.
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.
Tumors or cancer of the COLON.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
A ubiquitously expressed telomere-binding protein that is present at TELOMERES throughout the CELL CYCLE. It is a suppressor of telomere elongation and may be involved in stabilization of telomere length. It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 2 in that it contains acidic N-terminal amino acid residues.
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.
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.
Genes that code for proteins that regulate the CELL DIVISION CYCLE. These genes form a regulatory network that culminates in the onset of MITOSIS by activating the p34cdc2 protein (PROTEIN P34CDC2).
Pathological processes that tend eventually to become malignant. (From Dorland, 27th ed)
Actual loss of portion of a chromosome.
A Fanconi anemia complementation group protein that undergoes mono-ubiquitination by FANCL PROTEIN in response to DNA DAMAGE. Also, in response to IONIZING RADIATION it can undergo PHOSPHORYLATION by ataxia telangiectasia mutated protein. Modified FANCD2 interacts with BRCA2 PROTEIN in a stable complex with CHROMATIN, and it is involved in DNA REPAIR by homologous RECOMBINATION.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
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 ubiquitously expressed telomere-binding protein that is present at TELOMERES throughout the cell cycle. It is a suppressor of telomere elongation and may be involved in stabilization of telomere length. It is structurally different from TELOMERIC REPEAT BINDING PROTEIN 1 in that it contains basic N-terminal amino acid residues.
A characteristic symptom complex.
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.
Securin is involved in the control of the metaphase-anaphase transition during MITOSIS. It promotes the onset of anaphase by blocking SEPARASE function and preventing proteolysis of cohesin and separation of sister CHROMATIDS. Overexpression of securin is associated with NEOPLASTIC CELL TRANSFORMATION and tumor formation.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
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.
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.
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.
Tumors or cancer of the human BREAST.
An expression of the number of mitoses found in a stated number of cells.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
A region of DNA that is highly polymorphic and is prone to strand breaks, rearrangements or other MUTATIONS because of the nature of its sequence. These regions often harbor palindromic, or repetitive sequences (REPETITIVE SEQUENCES, NUCLEIC ACID). Variability in stability of the DNA sequence is seen at CHROMOSOME FRAGILE SITES.
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.
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.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
A cyclin subtype that is transported into the CELL NUCLEUS at the end of the G2 PHASE. It stimulates the G2/M phase transition by activating CDC2 PROTEIN KINASE.
The fission of a CELL. It includes CYTOKINESIS, when the CYTOPLASM of a cell is divided, and CELL NUCLEUS DIVISION.
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.
A benign epithelial tumor with a glandular organization.
The period of the CELL CYCLE following DNA synthesis (S PHASE) and preceding M PHASE (cell division phase). The CHROMOSOMES are tetraploid in this point.
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.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
A species of POLYOMAVIRUS, originally isolated from the brain of a patient with progressive multifocal leukoencephalopathy. The patient's initials J.C. gave the virus its name. Infection is not accompanied by any apparent illness but serious demyelinating disease can appear later, probably following reactivation of latent virus.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
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.
A malignant epithelial tumor with a glandular organization.
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)
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.
Genes whose abnormal expression, or MUTATION are associated with the development, growth, or progression of NEOPLASMS.
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.
Elements of limited time intervals, contributing to particular results or situations.
The presence of an uncomplimentary base in double-stranded DNA caused by spontaneous deamination of cytosine or adenine, mismatching during homologous recombination, or errors in DNA replication. Multiple, sequential base pair mismatches lead to formation of heteroduplex DNA; (NUCLEIC ACID HETERODUPLEXES).
A general term for various neoplastic diseases of the lymphoid tissue.
A 50-kDa protein that complexes with CYCLIN-DEPENDENT KINASE 2 in the late G1 phase of the cell cycle.

Multiplex single-tube screening for mutations in the Nijmegen Breakage Syndrome (NBS1) gene in Hodgkin's and non-Hodgkin's lymphoma patients of Slavic origin. (1/873)

Patients with Nijmegen Breakage Syndrome (NBS) have a high risk to develop malignant diseases, most frequently B-cell lymphomas. It has been demonstrated that this chromosomal breakage syndrome results from mutations in the NBS1 gene that cause either a loss of full-length protein expression or expression of a variant protein. A large proportion of the known NBS patients are of Slavic origin who carry a major founder mutation 657del5 in exon 6 of the NBS1 gene. The prevalence of this mutation in Slav populations is reported to be high, possibly contributing to higher cancer risk in these populations. Therefore, if mutations in NBS1 are associated with higher risk of developing lymphoid cancers it would be most likely to be observed in these populations. A multiplex assay for four of the most frequent NBS1 mutations was designed and a series of 119 lymphoma patients from Slavic origin as well as 177 healthy controls were tested. One of the patients was a heterozygote carrier of the ACAAA deletion mutation in exon 6 (1/119). No mutation was observed in the control group, despite the reported high frequency (1/177). The power of this study was 30% to detect a relative risk of 2.0.  (+info)

Lymphoma development in Bax transgenic mice is inhibited by Bcl-2 and associated with chromosomal instability. (2/873)

Bax is a Bcl-2 family member that promotes apoptosis but has paradoxical effects on lymphoma development in p53-deficient mice. To better understand the mechanism of Bax-induced lymphoma development, the effect of Bax levels, p53 status and Bcl-2 coexpression on lymphoma development were determined. In addition, DNA content and cytogenetics were performed on young (premalignant) Lck-Bax mice as measures of genetic instability. Bax promoted lymphoma development in p53-deficient mice in a dose-dependent manner. Bax expression also led to lymphoma development in both p53 +/- and +/+ animals. Ploidy analysis in mice prior to the onset of overt thymic lymphomas demonstrated that Lck-Bax transgenic mice were more likely to be aneuploid and demonstrate increased chromosome instability. With tumor progression, aneuploidy increased and Bax expression was maintained. Importantly, coexpression of Bcl-2 delayed lymphoma development in Lck-Bax transgenic mice. These data support a model in which increased sensitivity to apoptosis leads directly to chromosome instability in developing T cells and may explain a number of paradoxical observations regarding Bcl-2 family members and the regulation of cancer.  (+info)

Chromosomal instability detected by fluorescence in situ hybridization in surgical specimens of non-small cell lung cancer is associated with poor survival. (3/873)

PURPOSE: Chromosomal instability (CIN) in non-small cell lung cancer (NSCLC) has yet to be well studied. We examined the relationship between CIN detected by fluorescence in situ hybridization and survival in patients with NSCLC. EXPERIMENTAL DESIGN: Touch preparations from 50 surgical specimens of NSCLC were studied. Tumors included 34 adenocarcinomas, 15 squamous cell carcinomas, and 1 large cell carcinoma. The pathologic stage was IA in 14, IB in 17, IIB in 8, IIIA in 9, and IIIB in 2 cases. Enumeration of chromosomes 3, 10, 11, and 17 was used to determine which tumors carried CIN. The association between CIN and survival was also analyzed. RESULTS: Disomy was most common, but tetrasomy and trisomy of the examined chromosomes were seen frequently. Fourteen tumors (28%) showed heterogeneity of all four chromosomes examined and were judged to be carrying CIN. Both univariate and multivariate analyses revealed that two factors, lymph node metastasis and CIN, were significant poor prognostic factors. CONCLUSIONS: CIN in NSCLC detected by fluorescence in situ hybridization is an independent factor predicting a poor prognosis.  (+info)

Chromosomal instability rather than p53 mutation is associated with response to neoadjuvant cisplatin-based chemotherapy in gastric carcinoma. (4/873)

PURPOSE: The objective of the study was to evaluate microsatellite alterations [microsatellite instability (MSI) and loss of heterozygosity (LOH)] and mutation in the p53 gene in relation to response and patient survival to a cisplatin-based neoadjuvant chemotherapy in gastric cancer. EXPERIMENTAL DESIGN: Fifty-three pretherapeutic gastric carcinoma biopsies were analyzed with 11 microsatellite markers. The entire coding region of the p53 gene (exons 2-11) was analyzed for mutations by denaturing high-pressure liquid chromatography and sequencing. p53 protein expression was evaluated by immunohistochemistry. Patients were treated with a cisplatin-based, neoadjuvant chemotherapy regimen. Therapy response was evaluated by computed tomography scan, endoscopy, and endoluminal ultrasound. The median follow-up of the patients was 45.6 months. RESULTS: p53 mutations were identified in 19 of the 53 (36%) analyzed tumors. No significant association with response or survival was found for p53 mutation or for p53 protein expression. MSI (either high-grade MSI or low-grade MSI) did not show a correlation with response. With respect to LOH, LOH at chromosome 17p13 showed a significant association with therapy response (P = 0.022) but did not reach statistical significance in terms of patient survival. The global LOH rate, expressed as fractional allelic loss (FAL), was assessed, and tumors were classified into tumors with a high (>0.5), medium (>0.25-0.5), and low (0-0.25) FAL value. A statistically significant association of FAL with therapy response was found (P = 0.003), with a high FAL being related to therapy response. The sensitivity, specificity, positive predictive value, and negative predictive value for FAL > 0.5 were 45%, 93%, 82%, and 72%, respectively. CONCLUSIONS: A high level of chromosomal instability (high FAL value) defines a subset of patients who are more likely to benefit from cisplatin-based neoadjuvant chemotherapy. p53 mutation status is not significantly associated with therapy response and is not a useful marker for response prediction.  (+info)

Drosophila melanogaster and D. simulans rescue strains produce fit offspring, despite divergent centromere-specific histone alleles. (5/873)

The interaction between rapidly evolving centromere sequences and conserved kinetochore machinery appears to be mediated by centromere-binding proteins. A recent theory proposes that the independent evolution of centromere-binding proteins in isolated populations may be a universal cause of speciation among eukaryotes. In Drosophila the centromere-specific histone, Cid (centromere identifier), shows extensive sequence divergence between D. melanogaster and the D. simulans clade, indicating that centromere machinery incompatibilities may indeed be involved in reproductive isolation and speciation. However, it is presently unclear whether the adaptive evolution of Cid was a cause of the divergence between these species, or merely a product of postspeciation adaptation in the separate lineages. Furthermore, the extent to which divergent centromere identifier proteins provide a barrier to reproduction remains unknown. Interestingly, a small number of rescue lines from both D. melanogaster and D. simulans can restore hybrid fitness. Through comparisons of cid sequence between nonrescue and rescue strains, we show that cid is not involved in restoring hybrid viability or female fertility. Further, we demonstrate that divergent cid alleles are not sufficient to cause inviability or female sterility in hybrid crosses. Our data do not dispute the rapid divergence of cid or the coevolution of centromeric components in Drosophila; however, they do suggest that cid underwent adaptive evolution after D. melanogaster and D. simulans diverged and, consequently, is not a speciation gene.  (+info)

The Fanconi Anemia/BRCA signaling pathway: disruption in cisplatin-sensitive ovarian cancers. (6/873)

Ovarian tumors often exhibit chromosome instability and hypersensitivity to the chemotherapeutic agent cisplatin. Recently, we have shown that this cellular phenotype may result from an acquired disruption of the Fanconi Anemia/BRCA (FA/BRCA) signaling pathway. Disruption results from methylation and silencing of one of the FA genes (FANCF), leading to cisplatin sensitivity. Restoration of this pathway is associated with demethylation of FANCF, leading to acquired cisplatinum resistance. The serial inactivation and reactivation of the FA/BRCA pathway has important implications for the diagnosis and treatment of ovarian cancers and related cancers.  (+info)

Long-term global gene expression patterns in irradiated human lymphocytes. (7/873)

Radiation-induced chromosomal instability has many features in common with genomic instability of cancer cells. In order to understand the delayed cellular response to ionizing radiation we have studied variations in the patterns of gene expression in primary human lymphocytes at various time points after gamma irradiation in vitro. Cells either exposed to 3 Gy of gamma rays in vitro or unexposed were subjected to long-term growth in bulk culture or as individual T-cell clones. Samples were taken at days 7, 17 or 55 from bulk cultures. The T-cell clones were harvested after 22-46 days. Total RNA was used to generate cDNA probes for hybridization to oligonucleotide arrays containing 12,625 gene templates (Affymetrix). The results showed that: (i) irradiation as well as culture time influence the gene expression patterns, (ii) the number of genes with increased or decreased expression in irradiated cells increases dramatically with increasing culture time, (iii) the changes of gene expression showed a significantly more diversified pattern in the irradiated T-cell clones than in non-irradiated clones. We conclude that the diversification of the transcriptome associated with radiation exposure reflects subtle changes of expression in many genes, rather than being the result of major changes in a few genes. Finally, (iv) we sorted out a set of genes whose change of expression correlates with radiation exposure in both bulk cultures and T-cell clones. Very few of these genes overlap with genes that change during the acute response to radiation. This set of genes may be regarded as a starting point for further studies of the cellular phenotype associated with radiation-induced genomic instability.  (+info)

Regional differences of somatic CAG repeat instability do not account for selective neuronal vulnerability in a knock-in mouse model of SCA1. (8/873)

Expression of unstable translated CAG repeats is the mutational mechanism in nine different neurodegenerative disorders. Although the products of genes harboring these repeats are widely expressed, a subset of neurons is vulnerable in each disease accounting for the different phenotypes. Somatic instability of the expanded CAG repeat has been implicated as a factor mediating the selective striatal neurodegeneration in Huntington disease. It remains unknown, however, whether such a mechanism contributes to the selective neurodegeneration in other polyglutamine diseases or not. To address this question, we investigated the pattern of CAG repeat instability in a knock-in mouse model of spinocerebellar ataxia type 1 (SCA1). Small pool PCR analysis on DNA from various neuronal and non-neuronal tissues revealed that somatic repeat instability was most remarkable in the striatum. In the two vulnerable tissues, cerebellum and spinal cord, there were substantial differences in the profiles of mosaicism. These results suggest that in SCA1 there is no clear causal relationship between the degree of somatic instability and selective neuronal vulnerability. The finding that somatic instability is most pronounced in the striatum of various knock-in models of polyglutamine diseases highlights the role of trans-acting tissue- or cell-specific factors in mediating the instability.  (+info)

Causes of Chromosomal Instability:

1. Genetic mutations: Mutations in genes that regulate the cell cycle or chromosome segregation can lead to CIN.
2. Environmental factors: Exposure to certain environmental agents such as radiation and certain chemicals can increase the risk of developing CIN.
3. Errors during DNA replication: Mistakes during DNA replication can also lead to CIN.

Types of Chromosomal Instability:

1. Aneuploidy: Cells with an abnormal number of chromosomes, either more or fewer than the normal diploid number (46 in humans).
2. Structural changes: Deletions, duplications, inversions, translocations, and other structural changes can occur in the chromosomes.
3. Unstable chromosome structures: Chromosomes with abnormal shapes or structures, such as telomere shortening, centromere instability, or chromosome breaks, can also lead to CIN.

Effects of Chromosomal Instability:

1. Cancer: CIN can increase the risk of developing cancer by disrupting normal cellular processes and leading to genetic mutations.
2. Aging: CIN can contribute to aging by shortening telomeres, which are the protective caps at the ends of chromosomes that help maintain their stability.
3. Neurodegenerative diseases: CIN has been implicated in the development of certain neurodegenerative diseases such as Alzheimer's and Parkinson's.
4. Infertility: CIN can lead to infertility by disrupting normal meiotic recombination and chromosome segregation during gametogenesis.

Detection and Diagnosis of Chromosomal Instability:

1. Karyotyping: This is a technique used to visualize the entire set of chromosomes in a cell. It can help identify structural abnormalities such as deletions, duplications, or translocations.
2. Fluorescence in situ hybridization (FISH): This technique uses fluorescent probes to detect specific DNA sequences or proteins on chromosomes. It can help identify changes in chromosome structure or number.
3. Array comparative genomic hybridization (aCGH): This technique compares the genetic material of a sample to a reference genome to identify copy number changes.
4. Next-generation sequencing (NGS): This technique can identify point mutations and other genetic changes in DNA.

Treatment and Management of Chromosomal Instability:

1. Cancer treatment: Depending on the type and stage of cancer, treatments such as chemotherapy, radiation therapy, or surgery may be used to eliminate cancer cells with CIN.
2. Prenatal testing: Pregnant women with a family history of CIN can undergo prenatal testing to detect chromosomal abnormalities in their fetuses.
3. Genetic counseling: Individuals with a family history of CIN can consult with a genetic counselor to discuss risk factors and potential testing options.
4. Lifestyle modifications: Making healthy lifestyle choices such as maintaining a balanced diet, exercising regularly, and not smoking can help reduce the risk of developing cancer and other diseases associated with CIN.

In conclusion, chromosomal instability is a common feature of many human diseases, including cancer, and can be caused by a variety of factors. The diagnosis and management of CIN require a multidisciplinary approach that includes cytogenetic analysis, molecular diagnostics, and clinical evaluation. Understanding the causes and consequences of CIN is crucial for developing effective therapies and improving patient outcomes.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

There are several types of aneuploidy, including:

1. Trisomy: This is the presence of an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21 (trisomy 21).
2. Monosomy: This is the absence of a chromosome.
3. Mosaicism: This is the presence of both normal and abnormal cells in the body.
4. Uniparental disomy: This is the presence of two copies of a chromosome from one parent, rather than one copy each from both parents.

Aneuploidy can occur due to various factors such as errors during cell division, exposure to certain chemicals or radiation, or inheritance of an abnormal number of chromosomes from one's parents. The risk of aneuploidy increases with age, especially for women over the age of 35, as their eggs are more prone to errors during meiosis (the process by which egg cells are produced).

Aneuploidy can be diagnosed through various methods such as karyotyping (examining chromosomes under a microscope), fluorescence in situ hybridization (FISH) or quantitative PCR. Treatment for aneuploidy depends on the underlying cause and the specific health problems it has caused. In some cases, treatment may involve managing symptoms, while in others, it may involve correcting the genetic abnormality itself.

In summary, aneuploidy is a condition where there is an abnormal number of chromosomes present in a cell, which can lead to various developmental and health problems. It can occur due to various factors and can be diagnosed through different methods. Treatment depends on the underlying cause and the specific health problems it has caused.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

There are several types of joint instability, including:

1. Ligamentous laxity: A condition where the ligaments surrounding a joint become stretched or torn, leading to instability.
2. Capsular laxity: A condition where the capsule, a thin layer of connective tissue that surrounds a joint, becomes stretched or torn, leading to instability.
3. Muscular imbalance: A condition where the muscles surrounding a joint are either too weak or too strong, leading to instability.
4. Osteochondral defects: A condition where there is damage to the cartilage and bone within a joint, leading to instability.
5. Post-traumatic instability: A condition that develops after a traumatic injury to a joint, such as a dislocation or fracture.

Joint instability can be caused by various factors, including:

1. Trauma: A sudden and forceful injury to a joint, such as a fall or a blow.
2. Overuse: Repeated stress on a joint, such as from repetitive motion or sports activities.
3. Genetics: Some people may be born with joint instability due to inherited genetic factors.
4. Aging: As we age, our joints can become less stable due to wear and tear on the cartilage and other tissues.
5. Disease: Certain diseases, such as rheumatoid arthritis or osteoarthritis, can cause joint instability.

Symptoms of joint instability may include:

1. Pain: A sharp, aching pain in the affected joint, especially with movement.
2. Stiffness: Limited range of motion and stiffness in the affected joint.
3. Swelling: Swelling and inflammation in the affected joint.
4. Instability: A feeling of looseness or instability in the affected joint.
5. Crepitus: Grinding or crunching sensations in the affected joint.

Treatment for joint instability depends on the underlying cause and may include:

1. Rest and ice: Resting the affected joint and applying ice to reduce pain and swelling.
2. Physical therapy: Strengthening the surrounding muscles to support the joint and improve stability.
3. Bracing: Using a brace or splint to provide support and stability to the affected joint.
4. Medications: Anti-inflammatory medications, such as ibuprofen or naproxen, to reduce pain and inflammation.
5. Surgery: In severe cases, surgery may be necessary to repair or reconstruct the damaged tissues and improve joint stability.

MSI is a common feature of many types of cancer, including colorectal cancer, gastrointestinal cancers, and endometrial cancer. It is estimated that up to 15% of all cancers exhibit MSI, with the highest prevalence found in colon cancer (40-50%).

MSI can be caused by a variety of genetic mutations, including defects in DNA repair genes such as MLH1 and MSH2, which are involved in the repair of microsatellites. Other causes of MSI include defects in the proofreading mechanism of DNA replication and the absence of the protein that corrects errors during DNA replication.

The significance of MSI in cancer is that it can be used as a biomarker for predicting the response of cancer cells to immunotherapy, such as checkpoint inhibitors. Cancer cells that exhibit MSI are more likely to respond to these therapies and have a better prognosis compared to those that do not exhibit MSI. Additionally, MSI can be used as a predictive biomarker for the presence of Lynch syndrome, an inherited condition that increases the risk of developing colorectal cancer and other cancers.

Overall, the study of microsatellite instability is an important area of cancer research, as it can provide valuable insights into the mechanisms of cancer development and progression, and may lead to the development of new diagnostic and therapeutic strategies for cancer treatment.

There are several types of chromosome fragility, including:

1. Fragile X syndrome: This is the most common form of chromosome fragility and is caused by an expansion of a CGG repeat in the FMR1 gene on the X chromosome. It is associated with intellectual disability, behavioral problems, and physical characteristics such as large ears and long faces.
2. Turner syndrome: This is a condition where one X chromosome is missing or partially deleted, leading to short stature, infertility, and other developmental delays.
3. Klinefelter syndrome: This is a condition where an individual has an extra X chromosome, leading to tall stature, small testes, and infertility.
4. Trisomy 13 and trisomy 18: These are conditions where there is an extra copy of chromosomes 13 or 18, leading to developmental delays and other physical and intellectual disabilities.
5. Chromosome breakage syndromes: These are conditions where there is a defect in the chromosome that increases the risk of breakage during cell division, leading to aneuploidy or structural changes. Examples include ataxia-telangiectasia and Nijmegen breakage syndrome.

Chromosome fragility can be diagnosed through a variety of methods, including karyotyping, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). Treatment for chromosome fragility depends on the specific condition and may include medication, surgery, or other interventions.

When a chromosome breaks, it can lead to genetic instability and potentially contribute to the development of diseases such as cancer. Chromosome breakage can also result in the loss or gain of genetic material, which can further disrupt normal cellular function and increase the risk of disease.

There are several types of chromosome breakage, including:

1. Chromosomal aberrations: These occur when there is a change in the number or structure of the chromosomes, such as an extra copy of a chromosome (aneuploidy) or a break in a chromosome.
2. Genomic instability: This refers to the presence of errors in the genetic material that can lead to changes in the function of cells and tissues.
3. Chromosomal fragile sites: These are specific regions of the chromosomes that are more prone to breakage than other regions.
4. Telomere shortening: Telomeres are the protective caps at the ends of the chromosomes, and their shortening can lead to chromosome breakage and genetic instability.

Chromosome breakage can be detected through cytogenetic analysis, which involves staining the cells with dyes to visualize the chromosomes and look for any abnormalities. The detection of chromosome breakage can help diagnose certain diseases, such as cancer, and can also provide information about the risk of disease progression.

In summary, chromosome breakage is a type of genetic alteration that can occur as a result of various factors, including exposure to radiation or chemicals, errors during cell division, or aging. It can lead to genetic instability and increase the risk of diseases such as cancer. Detection of chromosome breakage through cytogenetic analysis can help diagnose certain diseases and provide information about the risk of disease progression.

There are currently no cures for Fanconi anemia, but bone marrow transplantation and other supportive therapies can help manage some of the symptoms and improve quality of life. Research into the genetics and molecular biology of Fanconi anemia is ongoing to better understand the disorder and develop new treatments.

Some of the common symptoms of Fanconi anemia include short stature, limb deformities, hearing loss, vision problems, and an increased risk of infections and cancer. Children with Fanconi anemia may also experience developmental delays, learning disabilities, and social and emotional challenges.

The diagnosis of Fanconi anemia is typically made based on a combination of clinical findings, laboratory tests, and genetic analysis. Treatment options for Fanconi anemia depend on the severity of the disorder and may include bone marrow transplantation, blood transfusions, antibiotics, and other supportive therapies.

Fanconi anemia is a rare disorder that affects approximately 1 in 160,000 births worldwide. It is more common in certain populations, such as Ashkenazi Jews and individuals of Spanish descent. Fanconi anemia can be inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

Overall, Fanconi anemia is a complex and rare genetic disorder that requires specialized medical care and ongoing research to better understand its causes and develop effective treatments. With appropriate management and supportive therapies, individuals with Fanconi anemia can lead fulfilling lives despite the challenges associated with the disorder.

The main symptoms of NBS include:

* Microcephaly (a small head)
* Growth retardation
* Immune deficiency
* Neurological problems, such as seizures and developmental delays
* Skeletal abnormalities, such as short limbs and joint deformities
* Skin changes, such as a wrinkled appearance and increased risk of skin cancer

NBS is usually diagnosed through genetic testing, and treatment is focused on managing the symptoms and preventing complications. This may include physical therapy to improve mobility and strength, medication to control seizures, and antibiotics to prevent infections. In some cases, bone marrow transplantation may be recommended to restore immune function.

The prognosis for NBS is generally poor, with many individuals experiencing significant disability and a shortened lifespan. However, with appropriate medical care and support, some individuals with NBS can lead relatively normal lives.

Polyploidy is a condition where an organism has more than two sets of chromosomes, which are the thread-like structures that carry genetic information. It can occur in both plants and animals, although it is relatively rare in most species. In humans, polyploidy is extremely rare and usually occurs as a result of errors during cell division or abnormal fertilization.

In medicine, polyploidy is often used to describe certain types of cancer, such as breast cancer or colon cancer, that have extra sets of chromosomes. This can lead to the development of more aggressive and difficult-to-treat tumors.

However, not all cases of polyploidy are cancerous. Some individuals with Down syndrome, for example, have an extra copy of chromosome 21, which is a non-cancerous form of polyploidy. Additionally, some people may be born with extra copies of certain genes or chromosomal regions due to errors during embryonic development, which can lead to various health problems but are not cancerous.

Overall, the term "polyploidy" in medicine is used to describe any condition where an organism has more than two sets of chromosomes, regardless of whether it is cancerous or non-cancerous.

The symptoms of Amniotic Band Syndrome can vary depending on the severity of the entanglement and the location of the bands on the body. Common physical abnormalities include:

* Limb defects, such as clubfoot, missing digits, or webbed fingers and toes
* Skin bridges or flaps
* Craniofacial abnormalities, such as cleft lip or palate
* Gastrointestinal malformations, such as intestinal atresia or stenosis
* Heart defects, such as ventricular septal defect
* Urinary tract abnormalities, such as bladder exstrophy or hypospadias

The cause of Amniotic Band Syndrome is not well understood, but it is thought to occur when the amniotic membrane ruptures and the fetus becomes entangled in the resulting bands. The condition can be diagnosed during pregnancy through ultrasound examination, and after birth through physical examination and imaging studies.

There is no standard treatment for Amniotic Band Syndrome, as the severity of the condition and the specific abnormalities present vary widely from case to case. Treatment may include surgery to correct physical abnormalities, as well as supportive care to manage developmental delays and other complications. The prognosis for children with Amniotic Band Syndrome varies depending on the severity of the condition and the specific abnormalities present, but in general, the condition can have a significant impact on the child's quality of life and long-term outlook.

Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.

Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.

In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.

It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.

See also: Cancer, Tumor

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The causes of colorectal neoplasms are not fully understood, but factors such as age, genetics, diet, and lifestyle have been implicated. Symptoms of colorectal cancer can include changes in bowel habits, blood in the stool, abdominal pain, and weight loss. Screening for colorectal cancer is recommended for adults over the age of 50, as it can help detect early-stage tumors and improve survival rates.

There are several subtypes of colorectal neoplasms, including adenomas (which are precancerous polyps), carcinomas (which are malignant tumors), and lymphomas (which are cancers of the immune system). Treatment options for colorectal cancer depend on the stage and location of the tumor, but may include surgery, chemotherapy, radiation therapy, or a combination of these.

Research into the causes and treatment of colorectal neoplasms is ongoing, and there has been significant progress in recent years. Advances in screening and treatment have improved survival rates for patients with colorectal cancer, and there is hope that continued research will lead to even more effective treatments in the future.

Bloom syndrome is a rare genetic disorder that affects approximately 1 in 100,000 individuals worldwide. It is caused by a mutation in the BLM gene, which codes for the Bloom syndrome protein (BLM). This protein plays a crucial role in the repair of DNA double-strand breaks and other types of genetic damage.

Characteristics:

Individuals with Bloom syndrome typically have short stature, small head size, and delicate features. They may also experience a range of health problems, including:

1. Increased risk of cancer: People with Bloom syndrome have an increased risk of developing various types of cancer, such as ovarian, breast, skin, and colon cancer.
2. Immune system problems: Individuals with Bloom syndrome may experience immune deficiency and autoimmune disorders, such as allergies and lupus.
3. Infertility: Many people with Bloom syndrome experience infertility or have difficulty conceiving.
4. Developmental delays: Children with Bloom syndrome may experience delayed development, including speech and language difficulties.
5. Skin changes: Individuals with Bloom syndrome may develop skin changes, such as thinning of the skin, easy bruising, and an increased risk of skin cancer.
6. Eye problems: Bloom syndrome can cause a range of eye problems, including cataracts, glaucoma, and detached retinas.
7. Increased risk of infections: People with Bloom syndrome may be more susceptible to infections due to their weakened immune system.
8. Other health problems: Individuals with Bloom syndrome may experience other health issues, such as hearing loss, kidney disease, and gastrointestinal problems.

Diagnosis:

Bloom syndrome can be diagnosed through a combination of clinical evaluation, family history, and genetic testing. Genetic testing can identify the presence of the BLM mutation that causes the disorder. Prenatal testing is also available for pregnant women who have a family history of Bloom syndrome.

Treatment:

There is no cure for Bloom syndrome, but treatment can help manage the symptoms and prevent complications. Treatment options may include:

1. Skin cancer screening and prevention: Regular skin exams can help detect skin cancer at an early stage, and preventive measures such as avoiding excessive sun exposure and using protective clothing and sunscreen can reduce the risk of skin cancer.
2. Eye care: Regular eye exams can help detect eye problems early, and prompt treatment can prevent vision loss.
3. Immune system support: Individuals with Bloom syndrome may be at increased risk of infections, so it's important to take steps to support the immune system, such as getting vaccinated against common illnesses and practicing good hygiene.
4. Developmental support: Children with Bloom syndrome may require extra support in school and at home to help them reach their full potential.
5. Managing other health problems: Depending on the specific health issues experienced by an individual with Bloom syndrome, treatment may involve medication, lifestyle changes, or other interventions to manage these conditions.

Prognosis:

The prognosis for individuals with Bloom syndrome varies depending on the specific health problems they experience. Some individuals may have a relatively mild course of the condition, while others may experience more severe health issues. With appropriate medical care and support, many individuals with Bloom syndrome can lead fulfilling lives. However, the condition can be associated with a shorter life expectancy compared to the general population.

Lifestyle Changes:

There are several lifestyle changes that can help manage the symptoms of Bloom syndrome and improve overall health. These may include:

1. Protecting the skin from the sun: Avoid excessive sun exposure, especially during peak hours, and use protective clothing and sunscreen to prevent skin damage.
2. Eating a healthy diet: A balanced diet that includes plenty of fruits, vegetables, whole grains, and lean protein can help support overall health.
3. Staying hydrated: Drinking plenty of water can help prevent dehydration, which can be a common issue for individuals with Bloom syndrome.
4. Avoiding smoking and excessive alcohol consumption: Both smoking and excessive alcohol consumption can worsen the symptoms of Bloom syndrome and increase the risk of certain health problems.
5. Getting regular exercise: Regular physical activity can help improve overall health and reduce the risk of certain health problems.
6. Managing stress: Stress can exacerbate the symptoms of Bloom syndrome, so it's important to find healthy ways to manage stress, such as through relaxation techniques or therapy.
7. Getting enough sleep: Adequate sleep is essential for overall health and well-being, and can help reduce the risk of certain health problems.
8. Avoiding exposure to toxins: Individuals with Bloom syndrome may be more susceptible to the effects of toxins, so it's important to avoid exposure to chemicals and other toxins whenever possible.
9. Keeping up-to-date on medical care: Regular check-ups with a healthcare provider can help identify any health issues early on and prevent complications.

Support Groups:

There are several support groups and organizations that provide information, resources, and support for individuals with Bloom syndrome and their families. These include:

1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome.
2. The Bloom Syndrome Foundation - A non-profit organization dedicated to supporting research and providing information and resources for individuals with Bloom syndrome and their families.
3. The Rare Disease United Foundation - Provides information and resources on rare diseases, including Bloom syndrome, as well as support for individuals and families affected by these conditions.

Online Resources:

There are several online resources available to help individuals with Bloom syndrome and their families learn more about the condition, connect with others, and find support. These include:

1. The National Organization for Rare Disorders (NORD) - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of healthcare providers and researchers.
2. The Bloom Syndrome Foundation - Offers information and resources on Bloom syndrome, as well as a registry for individuals with the condition to connect with others and receive updates on research and treatments.
3. Rare Disease United - Provides information and resources on rare diseases, including Bloom syndrome, as well as a directory of support groups and advocacy organizations.
4. The Global Bloom Syndrome Registry - A registry for individuals with Bloom syndrome to connect with others and receive updates on research and treatments.
5. The Bloom Syndrome Community - A Facebook group for individuals with Bloom syndrome and their families to connect, share information, and support one another.

These online resources can provide valuable information and support for individuals with Bloom syndrome and their families. It is important to note that while these resources can be helpful, they should not replace the advice of a qualified healthcare professional.

The presence of chromosome-defective micronuclei in cells can be an indication of genetic damage and may be used as a diagnostic marker for certain diseases or conditions, such as cancer or exposure to toxic substances. The frequency and distribution of these structures within a cell population can also provide information about the type and severity of genetic damage present.

In contrast to other types of micronuclei, which are typically smaller and less complex, chromosome-defective micronuclei are larger and more irregular in shape, and may contain fragmented or abnormal chromatin material. They can also be distinguished from other types of micronuclei by their specific staining properties and the presence of certain structural features, such as the presence of nucleoli or the absence of a membrane boundary.

Overall, the study of chromosome-defective micronuclei is an important tool for understanding the mechanisms of genetic damage and disease, and may have practical applications in fields such as cancer diagnosis and environmental health assessment.

The hallmark symptoms of AT are:

1. Ataxia: difficulty with coordination, balance, and gait.
2. Telangiectasias: small, red blood vessels visible on the skin, particularly on the face, neck, and arms.
3. Ocular telangiectasias: small, red blood vessels visible in the eyes.
4. Cognitive decline: difficulty with memory, learning, and concentration.
5. Seizures: episodes of abnormal electrical activity in the brain.
6. Increased risk of cancer: particularly lymphoma, myeloid leukemia, and breast cancer.

The exact cause of AT is not yet fully understood, but it is thought to be due to mutations in the ATM gene, which is involved in DNA damage response and repair. There is currently no cure for AT, but various treatments are available to manage its symptoms and prevent complications. These may include:

1. Physical therapy: to improve coordination and balance.
2. Occupational therapy: to assist with daily activities and fine motor skills.
3. Speech therapy: to improve communication and swallowing difficulties.
4. Medications: to control seizures, tremors, and other symptoms.
5. Cancer screening: regular monitoring for the development of cancer.

AT is a rare disorder, and it is estimated that only about 1 in 40,000 to 1 in 100,000 individuals are affected worldwide. It is important for healthcare providers to be aware of AT and its symptoms, as early diagnosis and intervention can improve outcomes for patients with this condition.

Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.

Types of Neoplasms

There are many different types of neoplasms, including:

1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.

Causes and Risk Factors of Neoplasms

The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:

1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.

Signs and Symptoms of Neoplasms

The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:

1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.

Diagnosis and Treatment of Neoplasms

The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.

The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:

1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.

Prevention of Neoplasms

While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:

1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.

It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.

There are many different types of chromosome disorders, including:

1. Trisomy: This is a condition in which there is an extra copy of a chromosome. For example, Down syndrome is caused by an extra copy of chromosome 21.
2. Monosomy: This is a condition in which there is a missing copy of a chromosome.
3. Turner syndrome: This is a condition in which there is only one X chromosome instead of two.
4. Klinefelter syndrome: This is a condition in which there are three X chromosomes instead of the typical two.
5. Chromosomal translocations: These are abnormalities in which a piece of one chromosome breaks off and attaches to another chromosome.
6. Inversions: These are abnormalities in which a segment of a chromosome is reversed end-to-end.
7. Deletions: These are abnormalities in which a portion of a chromosome is missing.
8. Duplications: These are abnormalities in which there is an extra copy of a segment of a chromosome.

Chromosome disorders can have a wide range of effects on the body, depending on the type and severity of the condition. Some common features of chromosome disorders include developmental delays, intellectual disability, growth problems, and physical abnormalities such as heart defects or facial anomalies.

There is no cure for chromosome disorders, but treatment and support are available to help manage the symptoms and improve the quality of life for individuals with these conditions. Treatment may include medications, therapies, and surgery, as well as support and resources for families and caregivers.

Preventive measures for chromosome disorders are not currently available, but research is ongoing to understand the causes of these conditions and to develop new treatments and interventions. Early detection and diagnosis can help identify chromosome disorders and provide appropriate support and resources for individuals and families.

In conclusion, chromosome disorders are a group of genetic conditions that affect the structure or number of chromosomes in an individual's cells. These conditions can have a wide range of effects on the body, and there is no cure, but treatment and support are available to help manage symptoms and improve quality of life. Early detection and diagnosis are important for identifying chromosome disorders and providing appropriate support and resources for individuals and families.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

https://www.medicinenet.com › Medical Dictionary › G

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Definition & Facts | Britannica
https://www.britannica.com › science › Genetic-tr...

Genetic translocation, also called chromosomal translocation, a type of chromosomal aberration in which a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material. Genetic translocations are often found in cancer cells and may play a role in the development and progression of cancer.

Translocation, Genetic | health Encyclopedia - UPMC
https://www.upmc.com › health-library › gene...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

Genetic Translocation | Genetics Home Reference - NIH
https://ghr.nlm.nih.gov › condition › ge...

A genetic translocation is a change in the number or arrangement of the chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome. This can result in a gain or loss of genetic material, which can have significant effects on the individual.

In conclusion, Genetic Translocation is an abnormality in the number or arrangement of chromosomes in a cell. It occurs when a portion of one chromosome breaks off and attaches to another chromosome, resulting in a gain or loss of genetic material that can have significant effects on the individual.

There are several types of gonadal disorders, including:

1. Hypogonadism: This is a condition in which the gonads do not produce enough sex hormones, leading to symptoms such as low libido, erectile dysfunction, and infertility.
2. Hypergonadism: This is a condition in which the gonads produce too much of one or both of the sex hormones, leading to symptoms such as excessive hair growth, acne, and irregular menstrual cycles.
3. Ovarian disorders: These include conditions such as polycystic ovary syndrome (PCOS), which can cause irregular menstrual cycles, cysts on the ovaries, and infertility. Other ovarian disorders include endometriosis and pelvic inflammatory disease.
4. Testicular disorders: These include conditions such as testicular torsion, which is a twisting of the testicle that can cut off blood flow and cause damage to the testicle, and varicocele, which is a swelling of the veins in the scrotum.
5. Gonadal dysgenesis: This is a condition in which the gonads do not develop properly, leading to infertility, ambiguous genitalia, and other symptoms.
6. Premature ovarian failure: This is a condition in which the ovaries stop functioning before the age of 40, leading to premature menopause and infertility.
7. Primary ovarian insufficiency: This is a condition in which the ovaries stop functioning before the age of 40, leading to premature menopause and infertility.
8. Ovary tumors: These are abnormal growths on the ovary that can cause symptoms such as pelvic pain, irregular menstrual cycles, and infertility.
9. Testicular tumors: These are abnormal growths on the testicle that can cause symptoms such as testicular pain, swelling, and infertility.
10. Epididymitis: This is an inflammation of the epididymis, a tube that runs along the back of the testicle and stores sperm. It can cause symptoms such as scrotal pain, swelling, and fever.
11. Orchitis: This is an inflammation of the testicle that can be caused by a virus or bacteria. It can cause symptoms such as scrotal pain, swelling, and fever.
12. Proctitis: This is an inflammation of the rectum and anus that can be caused by a viral or bacterial infection. It can cause symptoms such as rectal pain, bleeding, and discharge.
13. Rectocele: This is a bulge of the rectum into the vagina that can cause symptoms such as rectal pressure, pain during sex, and difficulty with bowel movements.
14. Cystoceles: These are bulges of the bladder into the vagina that can cause symptoms such as bladder pressure, pain during sex, and difficulty with urination.
15. Uterine prolapse: This is a condition in which the uterus drops down into the vagina and can cause symptoms such as vaginal bulging, pain during sex, and difficulty with bowel movements.

It's important to note that this is not an exhaustive list and there may be other causes of pelvic pain. If you are experiencing persistent or severe pelvic pain, it's important to see a healthcare provider for a proper evaluation and diagnosis.

Tetraploidy can be caused by various factors such as:

1. Polyploidy: This is a condition where an individual has more than two sets of chromosomes, including tetraploidy.
2. Chromosomal abnormalities: Such as aneuploidy, where there is an extra or missing copy of a specific chromosome.
3. Genetic disorders: Such as Down syndrome, which is caused by an extra copy of chromosome 21.
4. Environmental factors: Exposure to certain chemicals or radiation can increase the risk of tetraploidy.

Symptoms of tetraploidy can vary depending on the severity of the condition and may include:

1. Growth delays: Children with tetraploidy may experience slowed growth and development.
2. Intellectual disability: Some individuals with tetraploidy may have cognitive impairments and learning difficulties.
3. Physical abnormalities: Tetraploidy can result in a variety of physical characteristics, such as short stature, thinning hair, and distinctive facial features.
4. Increased risk of health problems: Individuals with tetraploidy may be more susceptible to certain health issues, such as heart defects, hearing loss, and vision problems.

Diagnosis of tetraploidy is typically made through chromosomal analysis, which can be performed on a blood or tissue sample. Treatment for tetraploidy is not always necessary, but may include:

1. Monitoring growth and development: Regular check-ups with a healthcare provider can help track the child's growth and development.
2. Speech and language therapy: Children with tetraploidy may benefit from speech and language therapy to address any communication difficulties.
3. Occupational therapy: Individuals with tetraploidy may need occupational therapy to help them develop skills and abilities.
4. Medication: In some cases, medication may be prescribed to manage associated health problems, such as heart defects or seizures.

It is important to note that every individual with tetraploidy is unique and may have a different experience and outcome. With appropriate medical care and support, many individuals with tetraploidy can lead fulfilling lives.

The features of gonadal dysgenesis, 46,XX include:

1. Short stature: Individuals with this condition are typically shorter than their peers and may have a slowed growth rate.
2. Infertility: Women with Turner syndrome are usually infertile due to the absence or defect of ovarian tissue.
3. Cardiovascular abnormalities: Some individuals with Turner syndrome may have heart defects, such as narrowing of the aorta or bicuspid aortic valve.
4. Thyroid problems: Turner syndrome is associated with an increased risk of thyroid problems, including hypothyroidism.
5. Craniofacial abnormalities: Some individuals with Turner syndrome may have distinctive facial features, such as a narrow forehead, wide-set eyes, and a small jaw.
6. Learning disabilities: Children with Turner syndrome may experience learning delays and learning disabilities.
7. Hearing loss: Some individuals with Turner syndrome may have hearing loss or ear abnormalities.
8. Other health problems: Turner syndrome is also associated with an increased risk of other health problems, such as osteoporosis, joint pain, and gastrointestinal issues.

The term "gonadal dysgenesis" refers to the abnormal development of the gonads (ovaries or testes), which can result in infertility or other reproductive problems. In the case of Turner syndrome, the ovaries are affected, leading to female infertility and other characteristic features.

There are several types of colonic neoplasms, including:

1. Adenomas: These are benign growths that are usually precursors to colorectal cancer.
2. Carcinomas: These are malignant tumors that arise from the epithelial lining of the colon.
3. Sarcomas: These are rare malignant tumors that arise from the connective tissue of the colon.
4. Lymphomas: These are cancers of the immune system that can affect the colon.

Colonic neoplasms can cause a variety of symptoms, including bleeding, abdominal pain, and changes in bowel habits. They are often diagnosed through a combination of medical imaging tests (such as colonoscopy or CT scan) and biopsy. Treatment for colonic neoplasms depends on the type and stage of the tumor, and may include surgery, chemotherapy, and/or radiation therapy.

Overall, colonic neoplasms are a common condition that can have serious consequences if left untreated. It is important for individuals to be aware of their risk factors and to undergo regular screening for colon cancer to help detect and treat any abnormal growths or tumors in the colon.

Examples of precancerous conditions include:

1. Dysplasia: This is a condition where abnormal cells are present in the tissue, but have not yet invaded surrounding tissues. Dysplasia can be found in organs such as the cervix, colon, and breast.
2. Carcinoma in situ (CIS): This is a condition where cancer cells are present in the tissue, but have not yet invaded surrounding tissues. CIS is often found in organs such as the breast, prostate, and cervix.
3. Atypical hyperplasia: This is a condition where abnormal cells are present in the tissue, but they are not yet cancerous. Atypical hyperplasia can be found in organs such as the breast and uterus.
4. Lobular carcinoma in situ (LCIS): This is a condition where cancer cells are present in the milk-producing glands of the breasts, but have not yet invaded surrounding tissues. LCIS is often found in both breasts and can increase the risk of developing breast cancer.
5. Adenomas: These are small growths on the surface of the colon that can become malignant over time if left untreated.
6. Leukoplakia: This is a condition where thick, white patches develop on the tongue or inside the mouth. Leukoplakia can be a precancerous condition and may increase the risk of developing oral cancer.
7. Oral subsquamous carcinoma: This is a type of precancerous lesion that develops in the mouth and can progress to squamous cell carcinoma if left untreated.
8. Cervical intraepithelial neoplasia (CIN): This is a condition where abnormal cells are present on the surface of the cervix, but have not yet invaded surrounding tissues. CIN can progress to cancer over time if left untreated.
9. Vulvar intraepithelial neoplasia (VIN): This is a condition where abnormal cells are present on the vulva, but have not yet invaded surrounding tissues. VIN can progress to cancer over time if left untreated.
10. Penile intraepithelial neoplasia (PIN): This is a condition where abnormal cells are present on the penis, but have not yet invaded surrounding tissues. PIN can progress to cancer over time if left untreated.

It is important to note that not all precancerous conditions will develop into cancer, and some may resolve on their own without treatment. However, it is important to follow up with a healthcare provider to monitor any changes and determine the best course of treatment.

Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

There are different types of Breast Neoplasms such as:

1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.

2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.

3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.

4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.

5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.

Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.

Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.

It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.

Disease progression can be classified into several types based on the pattern of worsening:

1. Chronic progressive disease: In this type, the disease worsens steadily over time, with a gradual increase in symptoms and decline in function. Examples include rheumatoid arthritis, osteoarthritis, and Parkinson's disease.
2. Acute progressive disease: This type of disease worsens rapidly over a short period, often followed by periods of stability. Examples include sepsis, acute myocardial infarction (heart attack), and stroke.
3. Cyclical disease: In this type, the disease follows a cycle of worsening and improvement, with periodic exacerbations and remissions. Examples include multiple sclerosis, lupus, and rheumatoid arthritis.
4. Recurrent disease: This type is characterized by episodes of worsening followed by periods of recovery. Examples include migraine headaches, asthma, and appendicitis.
5. Catastrophic disease: In this type, the disease progresses rapidly and unpredictably, with a poor prognosis. Examples include cancer, AIDS, and organ failure.

Disease progression can be influenced by various factors, including:

1. Genetics: Some diseases are inherited and may have a predetermined course of progression.
2. Lifestyle: Factors such as smoking, lack of exercise, and poor diet can contribute to disease progression.
3. Environmental factors: Exposure to toxins, allergens, and other environmental stressors can influence disease progression.
4. Medical treatment: The effectiveness of medical treatment can impact disease progression, either by slowing or halting the disease process or by causing unintended side effects.
5. Co-morbidities: The presence of multiple diseases or conditions can interact and affect each other's progression.

Understanding the type and factors influencing disease progression is essential for developing effective treatment plans and improving patient outcomes.

Adenomas are caused by genetic mutations that occur in the DNA of the affected cells. These mutations can be inherited or acquired through exposure to environmental factors such as tobacco smoke, radiation, or certain chemicals.

The symptoms of an adenoma can vary depending on its location and size. In general, they may include abdominal pain, bleeding, or changes in bowel movements. If the adenoma becomes large enough, it can obstruct the normal functioning of the affected organ or cause a blockage that can lead to severe health complications.

Adenomas are usually diagnosed through endoscopy, which involves inserting a flexible tube with a camera into the affected organ to visualize the inside. Biopsies may also be taken to confirm the presence of cancerous cells.

Treatment for adenomas depends on their size, location, and severity. Small, non-pedunculated adenomas can often be removed during endoscopy through a procedure called endoscopic mucosal resection (EMR). Larger adenomas may require surgical resection, and in some cases, chemotherapy or radiation therapy may also be necessary.

In summary, adenoma is a type of benign tumor that can occur in glandular tissue throughout the body. While they are not cancerous, they have the potential to become malignant over time if left untreated. Therefore, it is important to seek medical attention if symptoms persist or worsen over time. Early detection and treatment can help prevent complications and improve outcomes for patients with adenomas.

Adenocarcinoma is a term used to describe a variety of different types of cancer that arise in glandular tissue, including:

1. Colorectal adenocarcinoma (cancer of the colon or rectum)
2. Breast adenocarcinoma (cancer of the breast)
3. Prostate adenocarcinoma (cancer of the prostate gland)
4. Pancreatic adenocarcinoma (cancer of the pancreas)
5. Lung adenocarcinoma (cancer of the lung)
6. Thyroid adenocarcinoma (cancer of the thyroid gland)
7. Skin adenocarcinoma (cancer of the skin)

The symptoms of adenocarcinoma depend on the location of the cancer and can include:

1. Blood in the stool or urine
2. Abdominal pain or discomfort
3. Changes in bowel habits
4. Unusual vaginal bleeding (in the case of endometrial adenocarcinoma)
5. A lump or thickening in the breast or elsewhere
6. Weight loss
7. Fatigue
8. Coughing up blood (in the case of lung adenocarcinoma)

The diagnosis of adenocarcinoma is typically made through a combination of imaging tests, such as CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a sample of tissue from the affected area and examining it under a microscope for cancer cells.

Treatment options for adenocarcinoma depend on the location of the cancer and can include:

1. Surgery to remove the tumor
2. Chemotherapy, which involves using drugs to kill cancer cells
3. Radiation therapy, which involves using high-energy X-rays or other particles to kill cancer cells
4. Targeted therapy, which involves using drugs that target specific molecules on cancer cells to kill them
5. Immunotherapy, which involves using drugs that stimulate the immune system to fight cancer cells.

The prognosis for adenocarcinoma is generally good if the cancer is detected and treated early, but it can be more challenging to treat if the cancer has spread to other parts of the body.

There are several types of lymphoma, including:

1. Hodgkin lymphoma: This is a type of lymphoma that originates in the white blood cells called Reed-Sternberg cells. It is characterized by the presence of giant cells with multiple nucleoli.
2. Non-Hodgkin lymphoma (NHL): This is a type of lymphoma that does not meet the criteria for Hodgkin lymphoma. There are many subtypes of NHL, each with its own unique characteristics and behaviors.
3. Cutaneous lymphoma: This type of lymphoma affects the skin and can take several forms, including cutaneous B-cell lymphoma and cutaneous T-cell lymphoma.
4. Primary central nervous system (CNS) lymphoma: This is a rare type of lymphoma that develops in the brain or spinal cord.
5. Post-transplantation lymphoproliferative disorder (PTLD): This is a type of lymphoma that develops in people who have undergone an organ transplant, often as a result of immunosuppressive therapy.

The symptoms of lymphoma can vary depending on the type and location of the cancer. Some common symptoms include:

* Swollen lymph nodes
* Fever
* Fatigue
* Weight loss
* Night sweats
* Itching

Lymphoma is diagnosed through a combination of physical examination, imaging tests (such as CT scans or PET scans), and biopsies. Treatment options for lymphoma depend on the type and stage of the cancer, and may include chemotherapy, radiation therapy, immunotherapy, or stem cell transplantation.

Overall, lymphoma is a complex and diverse group of cancers that can affect people of all ages and backgrounds. While it can be challenging to diagnose and treat, advances in medical technology and research have improved the outlook for many patients with lymphoma.

found that rearrangements involving telomere regions are associated with chromosomal instability in human fibroblasts that ... "Chromosomal instability". Nature. 357 (6379): 548. Bibcode:1992Natur.357..548S. doi:10.1038/357548a0. PMID 1608466. S2CID ... Genomic instability has been observed both in vitro and in vivo in the progeny of cells that are irradiated with heavy ions in ... In fact, only a small fraction of the initial damage is transduction of late chromosomal damage has also been measured in the ...
Boukamp, Petra; Popp, Susanne; Krunic, Damir (2005-11-01). "Telomere-Dependent Chromosomal Instability". Journal of ... which are rotations in regions of a chromosome due to chromosomal breakages or intra-chromosomal recombinations. Inversions ... Chromosomal inversion Telomeres Cytogenetics Nuclear radiation Intellectual disorders Nussbaum, Robert; McInnes, Roderick; ... Pseudodicentric chromosomes alone do not define these syndromes, because the contribution of other chromosomal abnormalities ...
... 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 ... Cobb, J. A. (Dec 2005). "Replisome instability, fork collapse, and gross chromosomal rearrangements arise synergistically from ...
Chromosomal instability resulting from dysfunctional caretaker genes is the most common form of genetic instability that leads ... mutational instability arising from changes in the nucleotide sequence of DNA and chromosomal instability arising from improper ... Michor, F; Iwasa, Y; Komarova, N. L.; Nowak, M. A. (2003). "Local regulation of homeostasis favors chromosomal instability". ... Van Gent, D. C.; Hoeijmakers, J. H.; Kanaar, R (2001). "Chromosomal stability and the DNA double-stranded break connection". ...
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 ... The presence of chromosomal aberrations has been demonstrated in every type of malignant tumor. Although BFB cycles are a major ...
Walther, A.; Houlston, R.; Tomlinson, I. (2008-07-01). "Association between chromosomal instability and prognosis in colorectal ... "Chromosomal instability is a risk factor for poor prognosis of adenocarcinoma of the lung: Fluorescence in situ hybridization ... "Chromosomal Instability Confers Intrinsic Multi-Drug Resistance". Cancer Research. 71 (5): 1858-1870. doi:10.1158/0008-5472.CAN ... "Cancer chromosomal instability: therapeutic and diagnostic challenges". EMBO Reports. 13 (6): 528-538. doi:10.1038/embor. ...
McGranahan N, Burrell RA, Endesfelder D, Novelli MR, Swanton C (June 2012). "Cancer chromosomal instability: therapeutic and ... high chromosomal instability can act as a tumor-suppressing mechanism by leading to cell death. Therefore, the significant ... The instability and drop in TPX2 at mitotic exit is dependent on both the anaphase-promoting complex/cyclosome (APC/C) and an ... A result of this decrease is a defect in BP531 (p53 binding protein 1) recruitment to chromosomal breaks, as recruitment is ...
Casper, AM; Durkin, SG; Arlt, MF; Glover, TW (Oct 2004). "Chromosomal instability at common fragile sites in Seckel syndrome". ... A chromosomal fragile site is a specific heritable point on a chromosome that tends to form a gap or constriction and may tend ... which are preferentially involved in chromosomal alterations, are frequently located at fragile sites. Chromosomal alterations ... The instability of CFSs is proposed to stem from late replication: CFSs are likely to initiate proper replication but slow to ...
DCC would fall into the chromosomal instability category. The chromosomal region of 18q has shown consistent LOH for nearly ... 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 ... but cancer related genes still tend to be categorized as chromosomal or microsatellite instability genes. ...
"Potential role of meiosis proteins in melanoma chromosomal instability". Journal of Skin Cancer. 2013: 190109. doi:10.1155/2013 ... "Potential Role of Meiosis Proteins in Melanoma Chromosomal Instability". Journal of Skin Cancer. 2013: 190109. doi:10.1155/2013 ... Ross, Andrew L.; Leder, Daniel E.; Weiss, Jonathan; Izakovic, Jan; Grichnik, James M. (September 2011). "Genomic instability in ... "A study of meiomitosis and novel pathways of genomic instability in cutaneous T-cell lymphomas (CTCL)". Oncotarget. 9 (102): ...
January 2018). "Chromosomal instability drives metastasis through a cytosolic DNA response". Nature. 553 (7689): 467-472. ... Recent work identified a form of genetic instability in cancer called chromosome instability (CIN) as a driver of metastasis. ...
"Autophagic cell death restricts chromosomal instability during replicative crisis". Nature. 565 (7741): 659-663. Bibcode: ... This telomere loss in turn can lead to telomere end-to-end fusions, fusion-bridge-breakage cycles and genome instability, which ... accumulating high levels of genome instability, pointing at autophagy as a potent tumor suppressor during the earliest stages ... "Telomere dysfunction as a cause of genomic instability in Werner syndrome". Proceedings of the National Academy of Sciences. ...
"Chromosomal instability drives metastasis through a cytosolic DNA response". Nature. 553 (7689): 467-472. Bibcode:2018Natur.553 ...
December 2014). "Mutant cohesin drives chromosomal instability in early colorectal adenomas". Human Molecular Genetics. 23 (25 ... The down-regulation of SMC1A causes genome instability, and CdLS cells carrying SMC1A variants display high level of chromosome ... June 2003). "Inhibition of BUB1 results in genomic instability and anchorage-independent growth of normal human fibroblasts". ... July 2009). "Cohesins form chromosomal cis-interactions at the developmentally regulated IFNG locus". Nature. 460 (7253): 410-3 ...
... (NBS) is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as ... "A new chromosomal instability disorder: the Nijmegen breakage syndrome". Acta Paediatr Scand. 70 (4): 557-64. doi:10.1111/j. ... chromosome instability and fertility defects, but not the developmental defects that are typically found in other NBS patients ... Chromosome instability syndromes, DNA replication and repair-deficiency disorders, Autosomal recessive disorders, Rare ...
"Centrosome amplification drives chromosomal instability in breast tumor development". Proc Natl Acad Sci USA. 99 (4): 1978-1983 ... The presence of an inadequate number of centrosomes is very often linked to the appearance of genome instability and the loss ... Storchova, Z.; Pellman, D. (2004). "From polyploidy to aneuploidy, genome instability and cancer". Nat Rev Mol Cell Biol. 5 (1 ... "Centrosome amplification and instability occurs exclusively in aneuploid, but not in diploid colorectal cancer cell lines, and ...
Castagnola P, Giaretti W (November 2005). "Mutant KRAS, chromosomal instability and prognosis in colorectal cancer". Biochimica ...
"Chromosomal instability in rodents caused by pollution from Baikonur cosmodrome". Ecotoxicology (London). 23 (7): 1283-1291. ... curse wherein they bear the environmental costs of extraction and a brief economic boom that leads to economic instability and ...
October 2014). "Mechanism of suppression of chromosomal instability by DNA polymerase POLQ". PLOS Genetics. 10 (10): e1004654. ... Sharief FS, Vojta PJ, Ropp PA, Copeland WC (July 1999). "Cloning and chromosomal mapping of the human DNA polymerase theta ( ... "A Polymerase Theta-dependent repair pathway suppresses extensive genomic instability at endogenous G4 DNA sites". Nature ...
... protects against genomic instability during mammalian spermatogenesis. PLoS Genetics, 7(6). https://doi.org/10.1371/journal. ... Chromosomal crossover, or crossing over, is the exchange of genetic material during sexual reproduction between two homologous ... Because chromosomal regions composed of transposons have large quantities of identical, repetitious code in a condensed space, ... to chromosomal crossover. Morgan immediately saw the great importance of Janssens' cytological interpretation of chiasmata to ...
It usually is a sign of genotoxic events and chromosomal instability. Micronuclei are commonly seen in cancerous cells and may ... extremely versatile and is one of the preferred methods to measure the level of chromosomal damage and chromosomal instability ... The frequencies of chromosomal aberrations, damaged cells, and micronuclei are significantly higher in smokers than non-smokers ... The major drawback of using micronucleus tests is that they cannot determine different types of chromosomal aberrations and can ...
... as well as chromosomal instability. MCM9, as well as MCM8, mutations are also associated with ovarian failure and chromosomal ... January 2015). "Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability". The Journal of ... December 2014). "MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability". American ... instability. The MCM8-MCM9 complex is likely required for the homologous recombinational repair of DNA double-strand breaks ...
"Phosphorylation of H2A by Bub1 prevents chromosomal instability through localizing shugoshin". Science. 327 (5962): 172-7. ...
"Overexpression of BUBR1 is associated with chromosomal instability in bladder cancer". Cancer Genetics and Cytogenetics. 174 (1 ... also known as genome instability. Genomic integrity is now appreciated at several levels where some tumors display instability ... That is, defects such as an increase in DNA damage, chromosomal rearrangements, and/or a decreased incidence of cell death. For ... According to some observations, a fraction of cohesins in the chromosomal arms and the centromeric cohesins are protected by ...
This can lead to loss of cell viability and chromosomal instability. The presence of multipolar spindles in cancer cells is one ... Mitosis consists of two independent processes: the intra-chromosomal and the extra-chromosomal (formation of spindle) changes ...
"Metabolic aggressiveness in benign meningiomas with chromosomal instabilities". Cancer Research. 70 (21): 8426-8434. doi: ...
Chromosomal rearrangement due to genome instability can cause gene amplification and deletion. Gene amplification is the ... Genomic instability can occur when the replication fork is disturbed or stalled in its migration. This can occur with ... This genomic instability means the cancer cell is actually more sensitive to DNA-damaging chemotherapy drugs. MDR proteins are ... Histone modifications, such as deacetylation, alters chromatin formation and silence large chromosomal regions. In cancer cells ...
2004). "Chfr inactivation is not associated to chromosomal instability in colon cancers". Oncogene. 22 (55): 8956-60. doi: ...
March 2012). "ChIP sequencing of cyclin D1 reveals a transcriptional role in chromosomal instability in mice". The Journal of ... 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 ... or chromosomal translocation. Gene amplification is responsible for overproduction of cyclin D protein in bladder cancer and ...
... s are a group of inherited conditions associated with chromosomal instability and breakage. They ... Inherited mutations in MCM8 and MCM9 can cause a chromosomal instability syndrome characterized by ovarian failure. The ... and chromosomal instability". Am. J. Hum. Genet. 95 (6): 754-62. doi:10.1016/j.ajhg.2014.11.002. PMC 4259971. PMID 25480036. ... Chromosome instability syndromes due to impaired DNA repair and with features of neurodegeneration and epigenetic alteration ...
Political instability and local feuds, aggravated by the poverty of the dispossessed Marsh Arab population, remain a serious ... A 2011 Study showed that Marsh Arabs have a high concentration of Y-chromosomal Haplogroup J-M267 and mtDNA haplogroup J having ...
Y-chromosomal DNA, paternally inherited, is used in an analogous way to determine the patrilineal history.) This is usually ... Oliveira PH, da Silva CL, Cabral JM (2013). "An appraisal of human mitochondrial DNA instability: new insights into the role of ... is data supporting the involvement of helix-distorting intrinsically curved regions and long G-tetrads in eliciting instability ...
... nervous system protozoal infections Central serous chorioretinopathy Central type neurofibromatosis Centromeric instability ... Christmas disease Chromhidrosis Chromom-Chromop Chromomycosis Chromophobe renal carcinoma Chromos Chromosoma Chromosomal ...
SON is located within the human chromosomal region 21q22.11 in nuclear speckles and consists of 12 exons. Exon 3 of the SON ... Erroneous SON function causes insufficient production of downstream targets, genome instability and disrupted cell cycle ...
... due to the genome instability in these cancers. (As indicated in the article Genome instability, such genome instability may be ... interfering with DNA repair by non-homologous end joining and causing chromosomal aberrations. The let-7a microRNA normally ...
April 2008). "Chromosomal instability in gastric mucosa-associated lymphoid tissue lymphomas: a fluorescent in situ ... Currently, this type of analysis will only detect gains and losses of chromosomal material and will not detect balanced ... FISH is used by examining the cellular reproduction cycle, specifically interphase of the nuclei for any chromosomal ... due to subtle chromosomal features; FISH can elucidate these differences. FISH can also be used to detect diseased cells more ...
... which further contributes to genomic instability. The high genomic instability of cruciform forming DNA sequences make them ... In the human genome, cruciform DNA structures are present in higher density within and surrounding chromosomal fragile sites, ... Cruciform structures can increase genomic instability and are involved in the formation of various diseases, such as cancer and ... Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS (September 2006). "Palindrome-mediated chromosomal translocations in ...
That is to say, the cell has an activated telomerase, eliminating the process of death by chromosome instability or loss, ... In a typical situation, the telomeres are shortened and chromosomal integrity declines with every subsequent cell division. ... causing many mutations and chromosomal abnormalities. As this process continues, the cell's genome becomes unstable. Eventually ...
These alterations include mutations (i.e. changes in nucleic acid sequences), chromosomal rearrangements (i.e. deletions, ... the malignant cells in PEL exhibit a high degree of genomic instability, i.e. alterations in the structure and/or expression of ...
Khristich AN, Mirkin SM (March 2020). "On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability". J. ... The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. The hereditary ataxias ... Usdin K, House NC, Freudenreich CH (2015). "Repeat instability during DNA repair: Insights from model systems". Crit. Rev. ...
This region on chromosome 15 is susceptible to breaks during chromosomal rearrangement and there are at least 12 partial ... UBE2Q1 and UBE4B in gastric and colorectal carcinomas with microsatellite instability". Pathology. 43 (7): 753-5. doi:10.1097/ ...
"Trans-generational radiation-induced chromosomal instability in the female enhances the action of chemical mutagens". Mutation ... Radiation-Induced Genomic Instability and Bystander Effects Clastogenic Factors and Transgenerational Effects". Radiation ... It has been shown that radiation damage including genome instability and carcinogenesis may occur transgenerationally in both ... Busby, Chris (17 March 2016). "It's not just cancer! Radiation, genomic instability and heritable genetic damage". Ecologist. ...
... the role of transcription-replication collisions in genome instability and thirdly the mechanisms of genome instability ... which are responsible for chromosomal fragility. Nat Struct Mol Biol 16: 226-228. Shishkin AA, Voineagu I, Matera R, Cherng N, ... Kononenko AV, Ebersole T, Vasquez KM, Mirkin SM (2018) Mechanisms of genetic instability caused by (CGG)n repeats in an ... Masnovo C, Lobo AF, Mirkin SM (2022) Replication dependent and independent mechanisms of GAA repeat instability. DNA Repair 118 ...
These short telomeres increase chromosomal instability, and increase the chances of certain cancers progressing in the body, ... Sakaguchi AY, Padalecki SS, Mattern V, Rodriguez A, Leach RJ, McGill JR, Chavez M, Giambernardi TA (May 1998). "Chromosomal ...
O'Connell K, Jinks-Robertson S, Petes TD (2015). "Elevated Genome-Wide Instability in Yeast Mutants Lacking RNase H Activity". ... or chromosomal regions). Expanding upon the initial characterization, Balachander et al. (2020) optimized their ribose-seq ... and genome instability. By 2015, some of the mechanisms for, consequences of, and approximate rates for the incorporation of ...
An in vivo study in aging mice found that epitalon treatment significantly reduced the incidence of chromosomal aberrations, ... Dzhokhadze, TA; Buadze, TZh; Rubanov, KD; Kiriia, NA; Lezhava, TA (2013). "Genome instability in pulmonary tuberculosis before ... but did appear to exert a protective effect against the future development of additional chromosomal aberrations. A human ...
Chromosomal instability (CIN) which have allelic imbalance at a number of chromosomal loci, including 5q, 8p, 17p, and 18q (Fig ... LOH for these chromosomal regions can now be used as an independent prognostic factor together with disease stage to target ... Virtual karyotyping identified chromosomal abnormalities in 98% of MM cases del(12p13.31)is an independent adverse marker amp( ... Blast phase patients with loss of chromosomal material on 7q showed poor survival. Loss of 7q is known to be predictive for ...
The chromosomal location of the EFS gene is 14q11.2 and its genomic coordinates are 14:23356400-23365633 on the reverse strand ... with more significant cytogenetic abnormalities and genomic instabilities observed in this groups. At the level of the EFS ...
Genomic amplification occurs when a cell gains copies (often 20 or more) of a small chromosomal locus, usually containing one ... Such alterations may occur early in progression to cancer and are a possible cause of the genetic instability characteristic of ... Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM (December 2006). "Differing patterns of genetic instability ... Translocation occurs when two separate chromosomal regions become abnormally fused, often at a characteristic location. A well- ...
Consistently, chromosomal regions that are less densely packed are also more prone to chromosomal translocations in cancers. ... Overexpression of these centromere genes can increase genomic instability in cancers. Elevated genomic instability on one hand ... Instability of centromere repetitive DNA was recently shown in cancer and aging. When DNA breaks occur at centromeres in the G1 ... In humans, centromere positions define the chromosomal karyotype, in which each chromosome has two arms, p (the shorter of the ...
Low SMUG1 transcripts can impair DNA repair and thus increase mutation rate, enhance chromosomal instability and promote ... SI: DNA Repair and Genetic Instability. 743-744: 26-32. doi:10.1016/j.mrfmmm.2012.12.001. PMC 3616158. PMID 23253900. Rual JF, ... Low SMUG1 expression is also associated with BRCA1, ATM, XRCC1, implying genomic instability in SMUG1 low tumors. Preclinical ...
The genetic mutations seen in serous carcinoma are chromosomal instability and mutations in TP53, an important tumor suppressor ... P53 mutations and chromosome instability are associated with serous carcinomas, which tend to resemble ovarian and Fallopian ... In women with Lynch syndrome-associated endometrial cancer, microsatellite instability is common. Development of an endometrial ...
Generally, only one strand is incorporated into the miRISC, selected on the basis of its thermodynamic instability and weaker ... "Evidence for X-chromosomal schizophrenia associated with microRNA alterations". PLOS ONE. 4 (7): e6121. Bibcode:2009PLoSO... ... "Involvement of microRNA in AU-rich element-mediated mRNA instability". Cell. 120 (5): 623-34. doi:10.1016/j.cell.2004.12.038. ...
Genome instability can refer to the accumulation of extra copies of DNA/chromosomes, chromosomal translocations, chromosomal ... expression and chromosomal assignment to 11p15". Biochem. Biophys. Res. Commun. 180 (3): 1241-1250. doi:10.1016/S0006-291X(05) ...
Such alterations are thought to occur early in progression to cancer and to be a likely cause of the genetic instability ... Whenever a cell needs to express the genetic information encoded in its nDNA the required chromosomal region is unravelled, ... Wei Q, Li L, Chen D (2007). DNA Repair, Genetic Instability, and Cancer. World Scientific. ISBN 978-981-270-014-8.[page needed ... Hegan DC, Narayanan L, Jirik FR, Edelmann W, Liskay RM, Glazer PM (December 2006). "Differing patterns of genetic instability ...
The dynamic lengthening and shortening of spindle microtubules, through a process known as dynamic instability determines to a ... Aurora B is a member of the chromosomal passenger complex and mediates chromosome-microtubule attachment and sister chromatid ...
... chromosomal, single gene, and polygenetic. 18q deletion syndrome Acrodermatitis enteropathica Acrogeria (Gottron syndrome) ... Immunodeficiency with hyper-IgM Immunodeficiency-centromeric instability-facial anomalies syndrome (ICF syndrome) Isolated IgA ...
In the first decades of the 20th century, Haiti experienced great political instability and was heavily in debt to France, ... Simms, TM; Wright, MR; Hernandez, M; Perez, OA; Ramirez, EC; Martinez, E; Herrera, RJ (11 May 2012). "Y-chromosomal diversity ... A 2012 genetic study on Haitian Y-chromosomal ancestry has revealed that the population "exhibit a predominantly Sub-Saharan ... Despite its tourism industry, Haiti is one of the poorest countries in the Americas, with corruption, political instability, ...
Both alterations can lead to chromosomal aberrations, unintentional genetic rearrangement, and a variety of cancers later in ... flap endonuclease Rad27/Fen1 in processing Okazaki fragments and preventing genome instability". Proceedings of the National ...
Chromosomal instability (CIN) is a major characteristic of many cancers. We investigated whether putatively functional single ... Chromosomal instability (CIN) is a major characteristic of many cancers. We investigated whether putatively functional single ... Single nucleotide polymorphisms in chromosomal instability genes and risk and clinical outcome of breast cancer: a Swedish ...
By depleting different Spindle Assembly Checkpoint (SAC) genes in the epithelial cells, we induce chromosomal instability and ...
Mechanisms of chromosomal instability (CIN) tolerance in aggressive tumors: surviving the genomic chaos. Chromosome Research. ... Chromosomal instability (CIN) is a pervasive feature of human cancers involved in tumor initiation and progression and which is ... Mechanisms of chromosomal instability (CIN) tolerance in aggressive tumors: surviving the genomic chaos. / Dhital, Brittiny; ... N2 - Chromosomal instability (CIN) is a pervasive feature of human cancers involved in tumor initiation and progression and ...
Chromosomal instability leads to aneuploidy, a state of karyotype imbalance. By inducing controlled chromosome mis-segregation ... Santaguida and colleagues show that aneuploidy can also instigate chromosomal instability. ... This generates a repertoire of genetically diverse cells with structural chromosomal abnormalities that can either continue ... is the most common form of genome instability and is a hallmark of cancer. CIN invariably leads to aneuploidy, a state of ...
... tools are allowing us to peer inside cells at the precise moment of cell division to understand this chromosomal instability ( ... Her lab also demonstrated how aneuploidy drives genome instability and mutagenesis.. As we forge ahead, we pay tribute to the ...
... they were able to characterise 17 different types of chromosomal instability. These chromosomal instability signatures were ... Chromosomal instability is a common feature of cancer, occurring in around 80% of tumours, but this jumble of fragments can be ... This is tragically clear from the very low survival rates for cancers that arise as a result of chromosomal instability. ... Drews, RM et al. A pan-cancer compendium of chromosomal instability. Nature; 15 Jun 2022; DOI: 10.1038/s41586-022-04789-9 ...
The MSK SPORE in Genomic Instability in Breast Cancer seeks to turn genomic instability into an advantage for therapeutic ... The link between chromosomal instability and innate immune signaling has been made, and the goal is to exploit this connection ... Chromosomal instability, which does not necessarily have a unique pattern of mutations, is associated with a poor prognosis but ... MSK SPORE in Genomic Instability in Breast Cancer More About MSK SPORE in Genomic Instability in Breast Cancer ...
Chromosomal instability drives metastasis through a cytosolic DNA response. Nature. 2018;553(7689):467-472. doi:10.1038/ ...
Tags: cancer, chromosomal instability, chromosome, genetics, Saccharomyces cerevisiae, yeast Yeast, Place your Bets. May 25, ... So it looks like chromosome number does play an important role in chromosomal instability. Too many chromosomes may overtax the ... So incorrect chromosome number alone can explain the chromosomal instability seen in cancer cells. But genes clearly play a ... Once the ratio strayed from one, chromosomal instability increased. But these genes dont explain everything. There were ...
A genotraumatic T cell is one with a tendency to develop numerous clonal chromosomal aberrations. Normal T lymphocytes show ... This concept implies genetic instability followed by T-cell proliferation. Successive cell divisions of a genotraumatic T-cell ... apoptosis during in vitro culturing, whereas genotraumatic ones have the ability to develop clonal chromosomal aberrations to ... clone may produce multiple and complex chromosomal aberrations. Some may reprogram the genotraumatic cells to apoptosis, ...
The CIN4 chromosomal instability qPCR classifier defines tumor aneuploidy and stratifies outcome in grade 2 breast cancer. PLoS ...
Health Conditions Related to Chromosomal Changes. The following chromosomal conditions are associated with changes in the ... Alternately, seizures might result from instability of the ring chromosome in some cells. ... Other chromosomal conditions. A rare condition known as terminal deletion 14 syndrome causes signs and symptoms similar to ... Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). A ring chromosome is ...
Chromosomal instability and tumors promoted by DNA hypomethylation. . Science. 2003. ;. 300. :. 455 ... Global DNA hypomethylation has been associated with genome instability (16). Conflicting results have been reported between ... is another important feature of malignant tumors and has been associated with genome instability (16). ...
... are the major cause of cancer-associated genome instability. Unrepaired DSBs can lead to chromosomal breakage and cell death, ... Gross chromosomal arrangements (GCRs) are hall markers of cancer cells, and DNA double-stand breaks (DSBs) ... We have established novel EGFP-based DSB repair assays and chromosomal translocation mouse models to investigate the mechanisms ... while incorrectly repaired DSBs would lead to genome instability. The research interest of my laboratory is to understand the ...
PLK1 Induces Chromosomal Instability and Overrides Cell-Cycle Checkpoints to Drive Tumorigenesis. Cancer Res. 2021;81:1293-307 ... Fanconi anemia (FA) is a rare inherited disease that causes genomic instability, which significantly increases the ... Moreover, it can override the cell cycle checkpoints, which can lead to genetic instability [31]. ... the microsatellite instability (MSI) status was evaluated, with the scatter plot proposing that the ascending MSI score was ...
This chromosomal instability has long been recognized as a characteristic of cancer, but its cause has remained unclear. ... So overexpression of these genes may be a major contributing factor to chromosomal instability, which is a hallmark of all ... The researchers hypothesized that the degree of chromosomal instability may also make cancer cells more vulnerable to the ... Genome Instability and Cancer Therapy. "We were surprised to find such a strong correlation between CES and things like whether ...
The project aims to study the microbiome in paediatric cancer predisposition and chromosomal instability syndromes (CIS). Read ... Assessing the contribution of the human microbiome to paediatric cancer and predisposition and chromosomal instability ...
Evidence of genome instability of Campylobacter jejuni isolated from poultry. Appl Environ Microbiol. 1998;64:1816-21.PubMed ... differences are more consistent with the addition of DNA through insertion of exogenous material or duplication of chromosomal ... contributes to the genomic instability characteristic of certain strains (39-41). The events causing the PFGE changes seen in ...
Schulte SL, Waha A, Steiger B, et al.: CNS germinomas are characterized by global demethylation, chromosomal instability and ...
Researchers reveal a new mechanism of genomic instability. Researchers at NYU School of Medicine have discovered the cellular ... mechanisms that normally generate chromosomal breaks in bacteria such as E. coli. The studys findings are published in the ...
... both increased mutational rates and chromosomal rearrangements. ... Associated Genome Instability. Group leader: Dr Marco Saponaro ... Zlotorynski E Genomic instability: Transcript elongation: pause at your peril. Nat Rev Cancer 2014 May 30; ... We are also interested in understanding the impact of transcription-induced genome instability in human health, with a ... However, at the same time RNA Pol II transcription is associated with increased genome instability, ...
Two genomic instability pathways, chromosomal instability pathway and microsatellite instability pathway, are known as the main ...
Centrosome dysfunction in Drosophila neural stem cells causes tumors that are not due to genome instability ... Centrosome dysfunction in Drosophila neural stem cells causes tumors that are not due to genome instability ... A mechanism linking extra centrosomes to chromosomal instability. . Nature.. 460. :. 278. -. 282 ... having extra centrosomes may contribute to genomic instability (Nigg, 2006; Ganem et al., 2009). ...
Relevant end points should include not only chromosomal aberrations and mutations but also genomic instability and induction of ... There is an intimate relationship between responses to DNA damage, the appearance of gene or chromosomal mutations, and ... The data did not reveal consistent evidence for the involvement of induced genomic instability in radiation tumorigenesis, ... Knowledge of adaptive responses, genomic instability, and bystander signaling among cells that may act to alter radiation ...
... p21CIP1 tumor suppressor axis guards against chromosomal instability by restraining CDK1 in human cancer cells. Oncogene 40: ...
Overall, these data for T. mirus provide a second example of prolonged chromosomal instability in natural neoallopolyploid ... The loss of T. dubius-derived genes in two T. mirus individuals did not correlate with any chromosomal changes, indicating a ... Patterns of chromosomal variation in natural populations of the neoallotetraploid Tragopogon mirus (Asteraceae). by Matthew ... In this study we assess chromosomal composition in a natural neoallotetraploid, Tragopogon mirus, and compare it with T. ...
Phosphorylation of H2A by Bub1 prevents chromosomal instability through localizing shugoshin. . Science ... The chromosomal passenger complex (CPC): from easy rider to the godfather of mitosis ... This in turn allows recruitment of the chromosomal passenger complex (CPC) and Aurora B activation (Wang et al., 2010). The CPC ...
... of the Rao laboratory are to identify oncogenes from the amplified chromosomal regions and the role of genomic instability in ... The goal of the laboratory is to investigate the role of CDC5L in the development of genomic instability and progression of ... Osteosarcoma is the most frequent bone neoplasm in children and often present with a high number of chromosomal amplifications ... and deletions, suggesting that genomic instability is linked to tumor development.. Recently, we identified CDC5L, a cell cycle ...
KIF18A as a Potential Target for Exploiting Chromosomal Instability in Cancer Cells ...
  • The research projects proposed in this SPORE address genomic instability in breast cancer. (mskcc.org)
  • Our ultimate plan is to exploit tumor-specific vulnerabilities by virtue of their underlying genomic instability. (mskcc.org)
  • These profiles of genomic instability have offered novel insights about the drivers of breast cancer development and progression. (mskcc.org)
  • The main goals of the Rao laboratory are to identify oncogenes from the amplified chromosomal regions and the role of genomic instability in osteosarcoma (OS). (texaschildrens.org)
  • Osteosarcoma is the most frequent bone neoplasm in children and often present with a high number of chromosomal amplifications and deletions, suggesting that genomic instability is linked to tumor development. (texaschildrens.org)
  • The goal of the laboratory is to investigate the role of CDC5L in the development of genomic instability and progression of osteosarcoma by overexpressing CDC5L cDNA and down-regulating by SiRNA in normal osteoblasts. (texaschildrens.org)
  • Histological pre-neoplastic changes genomic instability and development that might progress into gastric cancer of cancer in human aged cells by are found in around 50% of people limiting the number of cell divisions. (who.int)
  • Dhital, B & Rodriguez-Bravo, V 2023, ' Mechanisms of chromosomal instability (CIN) tolerance in aggressive tumors: surviving the genomic chaos ', Chromosome Research , vol. 31, no. 2, 15. (elsevier.com)
  • Chromosome instability (CIN) is the most common form of genome instability and is a hallmark of cancer. (nature.com)
  • However, so far, there has not been a framework to interpret the larger, more complex patterns of genetic changes seen in chromosome instability in the same way. (cam.ac.uk)
  • The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 14. (medlineplus.gov)
  • Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (medlineplus.gov)
  • Alternately, seizures might result from instability of the ring chromosome in some cells. (medlineplus.gov)
  • A breakdown in this process causes chromosome instability. (lbl.gov)
  • To determine if centromeres play a role in chromosome instability in human cancers, the researchers analyzed many public datasets from the National Center for Biotechnology Information, the Broad Institute and other organizations that together contained thousands of human clinical tumor samples from at least a dozen types of cancers. (lbl.gov)
  • Altogether, our study reveals the short-term origins of CIN following aneuploidy and indicates the aneuploid state of cancer cells as a point mutation-independent source of genome instability, providing an explanation for aneuploidy occurrence in tumors. (nature.com)
  • Such an advantage could be explained by the possibility that aneuploidy induces CIN (and, more broadly, genome instability), which might enable a continuous sculpting of the genome, eventually leading to cumulative haploinsufficiency and triplosensitivity 15 , 16 of genes crucial for sustained proliferation. (nature.com)
  • Her lab also demonstrated how aneuploidy drives genome instability and mutagenesis. (volastratx.com)
  • Gross chromosomal arrangements (GCRs) are hall markers of cancer cells, and DNA double-stand breaks (DSBs) are the major cause of cancer-associated genome instability. (scripps.edu)
  • Unrepaired DSBs can lead to chromosomal breakage and cell death, while incorrectly repaired DSBs would lead to genome instability. (scripps.edu)
  • Our research focuses on characterising and understanding the mechanisms through which RNA transcription induces genome instability, and how the cells react to this problem. (birmingham.ac.uk)
  • However, at the same time RNA Pol II transcription is associated with increased genome instability, both increased mutational rates and chromosomal rearrangements. (birmingham.ac.uk)
  • However, for most of these factors, we do not know how exactly they affect RNA Pol II transcription, and consequently, how they are inducing genome instability. (birmingham.ac.uk)
  • We use a combination of genome wide approaches, couple with functional studies and microscopy, to understand how these transcription-associated factors support RNA Pol II transcription, and how genome instability arises in their absence. (birmingham.ac.uk)
  • We are also interested in understanding the impact of transcription-induced genome instability in human health, with a particular, but not exclusive, focus on carcinogenesis. (birmingham.ac.uk)
  • Fanconi Anemia is a recessive and rare genetic disorder, characterized by chromosomal instability that induces congenital alterations in individuals. (bvsalud.org)
  • By depleting different Spindle Assembly Checkpoint (SAC) genes in the epithelial cells, we induce chromosomal instability and generate aneuploidy. (ub.edu)
  • The loss of T. dubius -derived genes in two T. mirus individuals did not correlate with any chromosomal changes, indicating a role for smaller-scale genetic alterations. (ufl.edu)
  • genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome]. (bvsalud.org)
  • We have established novel EGFP-based DSB repair assays and chromosomal translocation mouse models to investigate the mechanisms underlying DSB repair and chromosomal rearrangement. (scripps.edu)
  • Researchers at NYU School of Medicine have discovered the cellular mechanisms that normally generate chromosomal breaks in bacteria such as E. coli. (phys.org)
  • However, too much of a good thing may come at a high cost for tumor cells as excessive degree of CIN-induced chromosomal aberrations can be detrimental for cancer cell survival and proliferation. (elsevier.com)
  • Three areas are the focus of study: homologous recombination deficiency, chromosomal instability, and APOBEC mutagenesis. (mskcc.org)
  • So overexpression of these genes may be a major contributing factor to chromosomal instability, which is a hallmark of all cancers. (lbl.gov)
  • Chromosomal instability (CIN) is a major characteristic of many cancers. (nih.gov)
  • Chromosomal instability (CIN) is a pervasive feature of human cancers involved in tumor initiation and progression and which is found elevated in metastatic stages. (elsevier.com)
  • Now, for the first time, scientists at the University of Cambridge and the National Cancer Research Center, Madrid, have published a robust framework to allow them to analyse chromosomal instability in human cancers. (cam.ac.uk)
  • This is tragically clear from the very low survival rates for cancers that arise as a result of chromosomal instability. (cam.ac.uk)
  • Dr Florian Markowetz and colleagues investigated patterns of chromosomal instability across 7,880 tumours, representing 33 types of cancer, such as liver and lung cancer, from The Cancer Genome Atlas. (cam.ac.uk)
  • This generates a repertoire of genetically diverse cells with structural chromosomal abnormalities that can either continue proliferating or stop dividing. (nature.com)
  • Chromosomal instability is a common feature of cancer, occurring in around 80% of tumours, but this jumble of fragments can be difficult to read, making it hard to understand exactly what types or 'patterns' of instability are present in any given tumour. (cam.ac.uk)
  • 2014. Patterns of chromosomal variation in natural populations of the neoallotetraploid Tragopogon mirus (Asteraceae). (ufl.edu)
  • This chromosomal instability has long been recognized as a characteristic of cancer, but its cause has remained unclear. (lbl.gov)
  • As such, understanding and treating chromosomal instability is central to improving the outcomes for millions of cancer patients worldwide. (cam.ac.uk)
  • Cytological studies have shown many newly formed allopolyploids (neoallopolyploids) exhibit chromosomal variation as a result of meiotic irregularities, but few naturally occurring neoallopolyploids have been examined. (ufl.edu)
  • 8) This gene, ocular laterality in cases of retinoblastoma is not found in the located in the chromosomal region 13q14, comprises more studies conducted. (bvsalud.org)
  • Recent scientific insights combined with powerful new tools are allowing us to peer inside cells at the precise moment of cell division to understand this chromosomal instability (CIN) scientists have observed - and to learn how CIN drives cancer spread. (volastratx.com)
  • The project aims to study the microbiome in paediatric cancer predisposition and chromosomal instability syndromes (CIS). (findaphd.com)
  • In this study we assess chromosomal composition in a natural neoallotetraploid, Tragopogon mirus , and compare it with T. miscellus, which is an allotetraploid of similar age (~40 generations old). (ufl.edu)
  • Little is known about how long chromosomal variation may persist and how it might influence the establishment and evolution of allopolyploids in nature. (ufl.edu)
  • Chromosomal instability drives metastasis through a cytosolic DNA response. (broadinstitute.org)
  • By analysing the differences in the number of repetitions of sequences of DNA within the tumours, they were able to characterise 17 different types of chromosomal instability. (cam.ac.uk)
  • The chromosomal structure between strains tends to be much more varied than between two humans. (yeastgenome.org)
  • The aim of this study was to clarify the association between the epigenetic instability phenotype and the chromosomal instability phenotype in primary hepatocellular carcinoma (HCC). (nih.gov)
  • We found that the epigenetic instability phenotype and the chromosomal instability phenotype are not mutually exclusive in hepatocarcinogenesis and that they do not show a simple cause-and-effect relationship. (nih.gov)
  • 13. Characterization of Chilean patients with sporadic colorectal cancer according to the three main carcinogenic pathways: Microsatellite instability, CpG island methylator phenotype and Chromosomal instability. (nih.gov)
  • Aneuploidy and chromosome instability (CIN) are hallmarks of cancer but their impact and evolution in cancer is still unclear. (nih.gov)
  • 12. The Landscape of Chromosome Instability in Breast Cancers and Associations with the Tumor Mutation Burden: An Analysis of Data from TCGA. (nih.gov)
  • 17. Chromosomal instability and aneuploidy as causes of cancer drug resistance. (nih.gov)
  • Cytogenetic analysis allows detection of chromosomal instability, which is a characteristic feature of the disease, although the poor response of T lymphocytes to mitogens can often make diagnosis difficult. (medscape.com)
  • The increased frequency of induced chromosomal breakage in lymphocytes and fibroblasts clearly differentiates Nijmegen breakage syndrome cells from healthy cells. (medscape.com)
  • There is evidence that increased frequency of chromosomal aberration (CA) in peripheral blood lymphocytes is a predictor of cancer, but further data are needed to better characterize CA as marker of cancer risk. (nih.gov)
  • 5. Genome-wide single-nucleotide polymorphism arrays in endometrial carcinomas associate extensive chromosomal instability with poor prognosis and unveil frequent chromosomal imbalances involved in the PI3-kinase pathway. (nih.gov)
  • 9. Genome-wide chromosomal instability by cell-free DNA sequencing predicts survival in patients with metastatic breast cancer. (nih.gov)
  • 15. Genome instability in multiple myeloma. (nih.gov)
  • Global genomic hypomethylation has been linked to the induction of chromosomal instability. (nih.gov)
  • 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)
  • 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)
  • Ring chromosome 14 syndrome is caused by a chromosomal abnormality known as a ring chromosome 14 or r(14). (medlineplus.gov)
  • A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies. (nih.gov)
  • However, the concept of chromosomal damage as a biomarker of early carcinogenic effects rests on the evidence of an association between biomarker frequency and cancer risk, in addition to that of an association between biomarker and exposure to genotoxic agents. (nih.gov)
  • Chromosomal structural alterations of these 60 HCC tumors were characterized in our previous study by using whole genomic array-based comparative genomic hybridization. (nih.gov)
  • It was noteworthy that epigenetic instability-positive and -negative HCCs displayed distinctive combinations of chromosomal structural alterations. (nih.gov)
  • 10. Microsatellite stable colorectal cancers stratified by the BRAF V600E mutation show distinct patterns of chromosomal instability. (nih.gov)
  • 1993. Protective effects of chlorogenic acid, curcumin and beta-carotene against gamma-radiation-induced in vivo chromosomal damage. (cdc.gov)
  • 7. Chromosomal Instability in Tumor Initiation and Development. (nih.gov)