A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
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.
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 benign epithelial tumor with a glandular organization.
Endoscopic examination, therapy or surgery of the luminal surface of the colon.
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 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).
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
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base.
Radiography using air, oxygen, or some other gas as a contrast medium.
A DNA repair pathway involved in correction of errors introduced during DNA replication when an incorrect base, which cannot form hydrogen bonds with the corresponding base in the parent strand, is incorporated into the daughter strand. Excinucleases recognize the BASE PAIR MISMATCH and cause a segment of polynucleotide chain to be excised from the daughter strand, thereby removing the mismatched base. (from Oxford Dictionary of Biochemistry and Molecular Biology, 2001)
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.
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.
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.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
Transport proteins that carry specific substances in the blood or across cell membranes.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
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.
Sebaceous gland neoplasms are uncommon cutaneous tumors that originate from the sebaceous glands, which can be benign (e.g., seborrheic keratosis, syringoma, trichofolliculoma) or malignant (e.g., sebaceous carcinoma, sebaceomatosis, mucoepidermoid carcinoma).
Biochemical identification of mutational changes in a nucleotide sequence.
Enzymes that are involved in the reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule, which contained damaged regions.
The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR.
A malignant epithelial tumor with a glandular organization.
An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered.
Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
DNA present in neoplastic tissue.
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.
Tumors or cancer of the COLON.
Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The B-cell leukemia/lymphoma-1 genes, associated with various neoplasms when overexpressed. Overexpression results from the t(11;14) translocation, which is characteristic of mantle zone-derived B-cell lymphomas. The human c-bcl-1 gene is located at 11q13 on the long arm of chromosome 11.
The distal segment of the LARGE INTESTINE, between the SIGMOID COLON and the ANAL CANAL.
Tumors or cancer of the RECTUM.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
Methods to identify and characterize cancer in the early stages of disease and predict tumor behavior.
Highly repetitive DNA sequences found in HETEROCHROMATIN, mainly near centromeres. They are composed of simple sequences (very short) (see MINISATELLITE REPEATS) repeated in tandem many times to form large blocks of sequence. Additionally, following the accumulation of mutations, these blocks of repeats have been repeated in tandem themselves. The degree of repetition is on the order of 1000 to 10 million at each locus. Loci are few, usually one or two per chromosome. They were called satellites since in density gradients, they often sediment as distinct, satellite bands separate from the bulk of genomic DNA owing to a distinct BASE COMPOSITION.
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.
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.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. They are indicators of tumor stage and grade as well as useful for monitoring responses to treatment and predicting recurrence. Many chemical groups are represented including hormones, antigens, amino and nucleic acids, enzymes, polyamines, and specific cell membrane proteins and lipids.
Tumors or cancer of the DUODENUM.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
Methods which attempt to express in replicable terms the extent of the neoplasm in the patient.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
An individual having different alleles at one or more loci regarding a specific character.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.
Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.
Addition of methyl groups to DNA. DNA methyltransferases (DNA methylases) perform this reaction using S-ADENOSYLMETHIONINE as the methyl group donor.
Ability of neoplasms to infiltrate and actively destroy surrounding tissue.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
A social group consisting of parents or parent substitutes and children.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional.
A characteristic symptom complex.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. It is a histological type of neoplasm but is often wrongly used as a synonym for "cancer." (From Dorland, 27th ed)
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)
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.
Small-scale tests of methods and procedures to be used on a larger scale if the pilot study demonstrates that these methods and procedures can work.
Organized periodic procedures performed on large groups of people for the purpose of detecting disease.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action in neoplastic tissue.
A surgical specialty concerned with the diagnosis and treatment of disorders and abnormalities of the COLON; RECTUM; and ANAL CANAL.
A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Cell-surface proteins that bind transforming growth factor beta and trigger changes influencing the behavior of cells. Two types of transforming growth factor receptors have been recognized. They differ in affinity for different members of the transforming growth factor beta family and in cellular mechanisms of action.
A country spanning from central Asia to the Pacific Ocean.
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.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
Tumors or cancer of the PANCREAS. Depending on the types of ISLET CELLS present in the tumors, various hormones can be secreted: GLUCAGON from PANCREATIC ALPHA CELLS; INSULIN from PANCREATIC BETA CELLS; and SOMATOSTATIN from the SOMATOSTATIN-SECRETING CELLS. Most are malignant except the insulin-producing tumors (INSULINOMA).
Deletion of sequences of nucleic acids from the genetic material of an individual.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
Tumors or cancer of the LIVER.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
Proteins found in any species of fungus.
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.
Neoplasms containing cyst-like formations or producing mucin or serum.
Endoscopic examination, therapy or surgery of the sigmoid flexure.
Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)
An adenocarcinoma producing mucin in significant amounts. (From Dorland, 27th ed)
A pyrimidine analog that is an antineoplastic antimetabolite. It interferes with DNA synthesis by blocking the THYMIDYLATE SYNTHETASE conversion of deoxyuridylic acid to thymidylic acid.
The transfer of a neoplasm from one organ or part of the body to another remote from the primary site.
Tumors or cancer of the SKIN.
Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base.
Organic compounds which contain platinum as an integral part of the molecule.

Genomic structure and alterations of homeobox gene CDX2 in colorectal carcinomas. (1/735)

Expression of CDX2, a caudal-related homeobox gene, was found to be decreased in colorectal carcinomas. Heterozygous null mutant mice as to Cdx2 develop multiple intestinal adenomatous polyps. To clarify the role of CDX2 in colorectal carcinogenesis, we determined its genomic structure, and searched for mutations of CDX2 in 49 sporadic colorectal carcinomas and ten hereditary non-polyposis colorectal cancers (HNPCC) without microsatellite instability. None of them exhibited a mutation. We further examined 19 HNPCC carcinomas with microsatellite instability for mutations in a (G)7 repeat site within CDX2. One of them (5.3%) exhibited one G insertion. Loss of heterozygosity was observed in 2 of the 20 (10%) informative sporadic carcinomas, and in one of the three (33.3%) informative HNPCC cancers. These data indicate that CDX2 may play only a minor role in colorectal carcinogenesis.  (+info)

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer. (2/735)

Germline mutations in two human mismatch repair (MMR) genes, hMSH2 and hMLH1, appear to account for approximately 70% of the common cancer susceptibility syndrome hereditary nonpolyposis colorectal cancer (HNPCC). Although the hMLH1 protein has been found to copurify with another MMR protein hPMS2 as a heterodimer, their function in MMR is unknown. In this study, we have identified the physical interaction regions of both hMLH1 with hPMS2. We then examined the effects of hMLH1 missense alterations found in HNPCC kindreds for their interaction with hPMS2. Four of these missense alterations (L574P, K616Delta, R659P, and A681T) displayed >95% reduction in binding to hPMS2. Two additional missense alterations (K618A and K618T) displayed a >85% reduction in binding to hPMS2, whereas three missense alterations (S44F, V506A, and E578G) displayed 25-65% reduction in binding to hPMS2. Interestingly, two HNPCC missense alterations (Q542L and L582V) contained within the consensus interaction region displayed no effect on interaction with hPMS2, suggesting that they may affect other functions of hMLH1. These data confirm that functional deficiencies in the interaction of hMLH1 with hPMS2 are associated with HNPCC as well as suggest that other unknown functional alteration of the human MutL homologues may lead to tumorigenesis in HNPCC kindreds.  (+info)

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. (3/735)

The frequency, origin, and phenotypic expression of a germline MSH2 gene mutation previously identified in seven kindreds with hereditary non-polyposis cancer syndrome (HNPCC) was investigated. The mutation (A-->T at nt943+3) disrupts the 3' splice site of exon 5 leading to the deletion of this exon from MSH2 mRNA and represents the only frequent MSH2 mutation so far reported. Although this mutation was initially detected in four of 33 colorectal cancer families analysed from eastern England, more extensive analysis has reduced the frequency to four of 52 (8%) English HNPCC kindreds analysed. In contrast, the MSH2 mutation was identified in 10 of 20 (50%) separately identified colorectal families from Newfoundland. To investigate the origin of this mutation in colorectal cancer families from England (n=4), Newfoundland (n=10), and the United States (n=3), haplotype analysis using microsatellite markers linked to MSH2 was performed. Within the English and US families there was little evidence for a recent common origin of the MSH2 splice site mutation in most families. In contrast, a common haplotype was identified at the two flanking markers (CA5 and D2S288) in eight of the Newfoundland families. These findings suggested a founder effect within Newfoundland similar to that reported by others for two MLH1 mutations in Finnish HNPCC families. We calculated age related risks of all, colorectal, endometrial, and ovarian cancers in nt943+3 A-->T MSH2 mutation carriers (n=76) for all patients and for men and women separately. For both sexes combined, the penetrances at age 60 years for all cancers and for colorectal cancer were 0.86 and 0.57, respectively. The risk of colorectal cancer was significantly higher (p<0.01) in males than females (0.63 v 0.30 and 0.84 v 0.44 at ages 50 and 60 years, respectively). For females there was a high risk of endometrial cancer (0.5 at age 60 years) and premenopausal ovarian cancer (0.2 at 50 years). These intersex differences in colorectal cancer risks have implications for screening programmes and for attempts to identify colorectal cancer susceptibility modifiers.  (+info)

Cytotoxic and mutagenic response of mismatch repair-defective human cancer cells exposed to a food-associated heterocyclic amine. (4/735)

The cytotoxic and mutagenic effects of 2-amino-1-methyl-6-phenylimidazo-[4,5-b]-pyridine (PhIP), a food-associated heterocyclic amine, were measured in three human cancer cell lines possessing different mismatch repair (MMR) defects and in matched cell lines corrected for the MMR deficiencies by specific chromosome transfer. Cells deficient in MMR were more resistant to PhIP-induced cytotoxicity and displayed approximately 3-fold more induced mutations at the hypoxanthine-guanine phosphoribosyl transferase locus. These results suggest that defects in MMR carried by patients with hereditary nonpolyposis colorectal cancer syndrome may result in enhanced sensitivity to certain dietary and environmental carcinogens such as PhIP.  (+info)

Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium. (5/735)

Hereditary non-polyposis colorectal cancer (HNPCC) is a dominantly inherited cancer syndrome caused by germline defects of mismatch repair (MMR) genes. Endometrial cancer is the most common extracolonic neoplasm in HNPCC and is the primary clinical manifestation of the syndrome in some families. The cumulative incidence of endometrial cancer among HNPCC mutation carriers is high, estimated to be from 22 to 43%. We hypothesized that women with double primary cancers of the colorectum and endometrium are likely to be members of HNPCC families. In order to determine how frequently HNPCC manifests in the context of double primary cancers, we examined alterations of two MMR genes, hMSH2 and hMLH1, in 40 unrelated women affected with double primary cancers. These cases were identified using hospital-based and population-based cancer registries in Ontario, Canada. MMR gene mutations were screened by single-strand conformation polymorphism analysis and confirmed by direct sequencing. Eighteen percent (seven of 40) were found to harbor mutations of one of the two MMR genes. Analysis of colorectal and/or endometrial tumors of mutation-negative probands found microsatellite instability in seven of 20 cases. Six of seven mutation-positive probands had strong family histories suggestive of HNPCC. First degree relatives of mutation-positive probands had a very high relative risk (RR) of colorectal cancer (RR = 8.1, CI 3. 5-15.9) and endometrial cancer (RR = 23.8, CI 6.4-61.0). The relative risk of mutation-negative cases was 2.8 (CI 1.7-4.5) for colorectal cancer and 5.4 (CI 2.0-11.7) for endometrial cancer. We recommend that all double primary patients with cancers at these sites should have a genetic evaluation, including molecular analysis for HNPCC where appropriate.  (+info)

Attitudes toward colon cancer gene testing: factors predicting test uptake. (6/735)

OBJECTIVES: Genetic discoveries in hereditary nonpolyposis colorectal cancer (HNPCC) have made possible genetic testing to determine susceptibility to this form of colorectal cancer (CRC). This study measured the uptake of genetic testing for HNPCC among first-degree relatives of CRC patients and conducted a preliminary analysis of the predictors of test uptake. MATERIALS AND METHODS: We compared 77 test acceptors and 181 decliners on demographic, medical history, and psychological characteristics, controlling for distance from the testing center. The psychological factors studied were risk perception for CRC, frequency of cancer thoughts, and perceived ability to cope with unfavorable genetic information. RESULTS: In the final regression model, after accounting for all variables, the significant predictors of test uptake were increased risk perception, greater perceived confidence in ability to cope with unfavorable genetic information, more frequent cancer thoughts, and having had at least one colonoscopy. The association between risk perception and uptake was dependent on frequency of cancer thoughts. Among those who thought about getting CRC more often, the probability of testing increased as perceived risk increased to approximately 50% likelihood of getting CRC and then leveled off. In contrast, among those who never or rarely thought about getting CRC, risk perception was unrelated to testing decision. CONCLUSIONS: Our findings are consistent with the associations reported between psychological factors and other cancer screening behaviors.  (+info)

Intention to learn results of genetic testing for hereditary colon cancer. (7/735)

INTRODUCTION: This report investigates the correlates of intention to find out genetic test results in colorectal cancer patients undergoing genetic counseling and testing for hereditary nonpolyposis colon cancer. Specifically, we investigated whether intention to learn genetic test results was associated with sociodemographic factors, medical history, psychosocial factors, attitudes, beliefs, and decisional considerations related to genetic testing. MATERIALS AND METHODS: Among 342 colorectal cancer patients who went through an informed consent process and gave blood for genetic testing and who were eligible for a psychosocial questionnaire study, 269 cases completed a baseline interview. Patients were contacted in person during a routine clinic visit or by letter and follow-up telephone call and were interviewed either in person or by telephone. RESULTS: In univariate analysis, intention to learn test results was positively associated with income, quality of life, a belief that being tested will help family members prevent cancer, being worried about carrying an altered gene, and a belief that one has the ability to cope with test results. It was negatively associated with a belief that genetic counseling is too much trouble relative to the benefits. Intention also was positively associated with scales measuring the pros of learning test results and the pros of informing relatives about test results; it was negatively associated with the cons of learning test results. In multivariable analysis, the belief that testing would help family members prevent cancer, being worried about carrying an altered gene, and the pros of learning test results remained statistically associated with intention when other variables were included in the model. CONCLUSIONS: Our findings showed that the positive aspects of genetic testing were more strongly associated with intention than were the negative aspects. They also showed that persons who stated an intention to learn their genetic test results were more likely than persons who did not to affirm both the benefits and the importance of such testing. These results are consistent with the literature on psychosocial aspects of genetic testing for breast cancer.  (+info)

Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression. (8/735)

Microsatellite instability (MSI) has been described in tumors from patients with hereditary nonpolyposis colorectal cancer, sporadic colorectal cancer, and other types of cancers. MSI is caused by the dysfunction of mismatch repairs genes. Loss of expression and mutation in one of the major mismatch repair genes, hMLH1, and the methylation of CpG sites in its promoter occur frequently in primary tumors and cell lines of colorectal cancer with MSI. To understand the mechanisms involved in the silencing of hMLH1 expression by methylation, we examined the methylation status of all CpG sites in the hMLH1 promoter in 24 colorectal cancer cell lines by the NaHSO3-sequencing method. We identified a small proximal region (-248 to -178, relative to the transcription start site) in the promoter in which the methylation status invariably correlates with the lack of hMLH1 expression. This correlation was further supported by the observation that cell lines that showed methylation-suppressed hMLH1 expression can be induced to reexpress hMLH1 by a methyl transferase inhibitor, 5-aza-2'-deoxycytidine, and the small region that we identified exhibited significant demethylation in all cell lines examined.  (+info)

Hereditary Nonpolyposis Colorectal Neoplasms (HNPCC), also known as Lynch Syndrome, is a genetic disorder that significantly increases the risk of developing colorectal cancer and other types of cancer. It is characterized by the mutation in genes responsible for repairing mistakes in the DNA replication process, specifically the mismatch repair genes (MMR).

HNPCC is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. The syndrome is associated with the development of colorectal cancer at a younger age, usually before 50 years old, and often in the proximal colon. Individuals with HNPCC also have an increased risk for other cancers, including endometrial, stomach, small intestine, ovary, kidney, brain, and skin (sebaceous gland tumors).

Regular surveillance and screening are crucial for early detection and management of colorectal neoplasms in individuals with HNPCC. This typically includes colonoscopies starting at a younger age and performed more frequently than in the general population. Genetic counseling and testing may also be recommended for family members who may have inherited the mutated gene.

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

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

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

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

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

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

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

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

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

A colonoscopy is a medical procedure used to examine the large intestine, also known as the colon and rectum. It is performed using a flexible tube with a tiny camera on the end, called a colonoscope, which is inserted into the rectum and gently guided through the entire length of the colon.

The procedure allows doctors to visually inspect the lining of the colon for any abnormalities such as polyps, ulcers, inflammation, or cancer. If any polyps are found during the procedure, they can be removed immediately using special tools passed through the colonoscope. Colonoscopy is an important tool in the prevention and early detection of colorectal cancer, which is one of the leading causes of cancer-related deaths worldwide.

Patients are usually given a sedative to help them relax during the procedure, which is typically performed on an outpatient basis in a hospital or clinic setting. The entire procedure usually takes about 30-60 minutes to complete, although patients should plan to spend several hours at the medical facility for preparation and recovery.

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

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

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

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

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

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

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

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

Colonic polyps are abnormal growths that protrude from the inner wall of the colon (large intestine). They can vary in size, shape, and number. Most colonic polyps are benign, meaning they are not cancerous. However, some types of polyps, such as adenomas, have a higher risk of becoming cancerous over time if left untreated.

Colonic polyps often do not cause any symptoms, especially if they are small. Larger polyps may lead to symptoms like rectal bleeding, changes in bowel habits, abdominal pain, or iron deficiency anemia. The exact cause of colonic polyps is not known, but factors such as age, family history, and certain medical conditions (like inflammatory bowel disease) can increase the risk of developing them.

Regular screening exams, such as colonoscopies, are recommended for individuals over the age of 50 to detect and remove polyps before they become cancerous. If you have a family history of colonic polyps or colorectal cancer, your doctor may recommend earlier or more frequent screenings.

I'm sorry for any confusion, but "Pneumoradiography" is not a recognized term in the field of medicine or radiology. It seems that there might be a mix-up with the terminologies.

However, you may be referring to "Pneumonic Radiography," which means a chest X-ray used to diagnose pneumonia. Pneumonia is an infection or inflammation of the lung tissue, and a chest X-ray can help identify areas of increased density in the lungs that could indicate the presence of pneumonia.

If you meant something else, please provide more context or clarify your question, and I would be happy to help further.

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

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

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

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

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

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

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

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

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

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

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

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

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

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

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

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

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

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

Examples of proto-oncogene proteins include:

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

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

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

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

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

Sebaceous gland neoplasms are abnormal growths or tumors that develop in the sebaceous glands, which are small oil-producing glands found in the skin. These glands are responsible for producing sebum, a natural oil that helps keep the skin and hair moisturized. Sebaceous gland neoplasms can be benign (non-cancerous) or malignant (cancerous).

Benign sebaceous gland neoplasms include:

* Seborrheic keratosis: These are common, harmless growths that appear as rough, scaly patches on the skin. They can be tan, brown, or black in color and vary in size from small to large.
* Sebaceous adenoma: This is a benign tumor that arises from the sebaceous glands. It typically appears as a small, yellowish bump on the skin.

Malignant sebaceous gland neoplasms include:

* Sebaceous carcinoma: This is a rare but aggressive form of skin cancer that arises from the sebaceous glands. It often appears as a hard, painless nodule on the eyelid or other areas of the face and can spread to other parts of the body if left untreated.
* Basal cell carcinoma: While not exclusively a sebaceous gland neoplasm, basal cell carcinomas can sometimes arise from the sebaceous glands. These are slow-growing but invasive skin cancers that typically appear as pearly or flesh-colored bumps on the skin.

It is important to have any new or changing growths on the skin evaluated by a healthcare professional to determine whether they are benign or malignant and to develop an appropriate treatment plan if necessary.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetic counseling is a process of communication and education between a healthcare professional and an individual or family, aimed at understanding, adapting to, and managing the medical, psychological, and familial implications of genetic contributions to disease. This includes providing information about the risk of inherited conditions, explaining the implications of test results, discussing reproductive options, and offering support and resources for coping with a genetic condition. Genetic counselors are trained healthcare professionals who specialize in helping people understand genetic information and its impact on their health and lives.

Endometrial neoplasms refer to abnormal growths or tumors in the endometrium, which is the innermost lining of the uterus. These neoplasms can be benign (non-cancerous) or malignant (cancerous). The two main types of endometrial cancer are type I, also known as endometrioid adenocarcinoma, and type II, which includes serous carcinoma, clear cell carcinoma, and carcinosarcoma.

Type I endometrial cancers are usually estrogen-dependent and associated with risk factors such as obesity, diabetes, and prolonged exposure to estrogen without progesterone. They tend to grow more slowly and have a better prognosis than type II cancers.

Type II endometrial cancers are less common but more aggressive, often presenting at an advanced stage and having a worse prognosis. They are not typically associated with hormonal factors and may occur in women who have gone through menopause.

Endometrial neoplasms can also include benign growths such as polyps, hyperplasia, and endometriosis. While these conditions are not cancerous, they can increase the risk of developing endometrial cancer and should be monitored closely by a healthcare provider.

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

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

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

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

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

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

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

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

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

Multiple primary neoplasms refer to the occurrence of more than one primary malignant tumor in an individual, where each tumor is unrelated to the other and originates from separate cells or organs. This differs from metastatic cancer, where a single malignancy spreads to multiple sites in the body. Multiple primary neoplasms can be synchronous (occurring at the same time) or metachronous (occurring at different times). The risk of developing multiple primary neoplasms increases with age and is associated with certain genetic predispositions, environmental factors, and lifestyle choices such as smoking and alcohol consumption.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

BCL-1 (B-cell leukemia/lymphoma 1) is not a gene itself but rather a chromosomal translocation that results in the formation of an abnormal fusion gene. The BCL-1 translocation, also known as t(14;18)(q32;q21), is most commonly found in follicular lymphoma, a type of slow-growing non-Hodgkin lymphoma.

The BCL-1 translocation involves the juxtaposition of the BCL-2 gene, which is located on chromosome 18, with the IGH (immunoglobulin heavy chain) gene, which is located on chromosome 14. This translocation results in the overexpression of the BCL-2 protein, which inhibits apoptosis or programmed cell death. The overexpression of BCL-2 leads to the accumulation of cancer cells and contributes to the development and progression of follicular lymphoma.

It is important to note that while BCL-1 is a chromosomal translocation, it can also refer to the protein encoded by the BCL-2 gene when it is overexpressed due to the t(14;18) translocation. In this context, BCL-1 is considered a proto-oncogene because its overexpression promotes cancer development and progression.

The rectum is the lower end of the digestive tract, located between the sigmoid colon and the anus. It serves as a storage area for feces before they are eliminated from the body. The rectum is about 12 cm long in adults and is surrounded by layers of muscle that help control defecation. The mucous membrane lining the rectum allows for the detection of stool, which triggers the reflex to have a bowel movement.

Rectal neoplasms refer to abnormal growths in the tissues of the rectum, which can be benign or malignant. They are characterized by uncontrolled cell division and can invade nearby tissues or spread to other parts of the body (metastasis). The most common type of rectal neoplasm is rectal cancer, which often begins as a small polyp or growth in the lining of the rectum. Other types of rectal neoplasms include adenomas, carcinoids, and gastrointestinal stromal tumors (GISTs). Regular screenings are recommended for early detection and treatment of rectal neoplasms.

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

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

Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.

Examples of hereditary neoplastic syndromes include:

1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.

Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.

The intestinal mucosa is the innermost layer of the intestines, which comes into direct contact with digested food and microbes. It is a specialized epithelial tissue that plays crucial roles in nutrient absorption, barrier function, and immune defense. The intestinal mucosa is composed of several cell types, including absorptive enterocytes, mucus-secreting goblet cells, hormone-producing enteroendocrine cells, and immune cells such as lymphocytes and macrophages.

The surface of the intestinal mucosa is covered by a single layer of epithelial cells, which are joined together by tight junctions to form a protective barrier against harmful substances and microorganisms. This barrier also allows for the selective absorption of nutrients into the bloodstream. The intestinal mucosa also contains numerous lymphoid follicles, known as Peyer's patches, which are involved in immune surveillance and defense against pathogens.

In addition to its role in absorption and immunity, the intestinal mucosa is also capable of producing hormones that regulate digestion and metabolism. Dysfunction of the intestinal mucosa can lead to various gastrointestinal disorders, such as inflammatory bowel disease, celiac disease, and food allergies.

The colon, also known as the large intestine, is a part of the digestive system in humans and other vertebrates. It is an organ that eliminates waste from the body and is located between the small intestine and the rectum. The main function of the colon is to absorb water and electrolytes from digested food, forming and storing feces until they are eliminated through the anus.

The colon is divided into several regions, including the cecum, ascending colon, transverse colon, descending colon, sigmoid colon, rectum, and anus. The walls of the colon contain a layer of muscle that helps to move waste material through the organ by a process called peristalsis.

The inner surface of the colon is lined with mucous membrane, which secretes mucus to lubricate the passage of feces. The colon also contains a large population of bacteria, known as the gut microbiota, which play an important role in digestion and immunity.

A frameshift mutation is a type of genetic mutation that occurs when the addition or deletion of nucleotides in a DNA sequence is not divisible by three. Since DNA is read in groups of three nucleotides (codons), which each specify an amino acid, this can shift the "reading frame," leading to the insertion or deletion of one or more amino acids in the resulting protein. This can cause a protein to be significantly different from the normal protein, often resulting in a nonfunctional protein and potentially causing disease. Frameshift mutations are typically caused by insertions or deletions of nucleotides, but they can also result from more complex genetic rearrangements.

Early detection of cancer refers to the identification of malignant cells or tumors in their initial stages, before they have had a chance to grow and spread. This is typically achieved through various screening methods and tests that are designed to detect specific types of cancers. The goal of early detection is to increase the chances of successful treatment and improve the overall prognosis for patients.

Some common methods used for early cancer detection include:

1. Regular screenings such as mammograms, colonoscopies, and Pap tests, which can help identify precancerous or cancerous cells in their earliest stages.
2. Imaging tests like CT scans, MRIs, and PET scans, which can help detect tumors that may not be visible through other screening methods.
3. Blood tests that look for specific biomarkers or tumor markers, which can indicate the presence of cancer in the body.
4. Genetic testing to identify individuals who may be at higher risk of developing certain types of cancer due to inherited genetic mutations.

It's important to note that while early detection is an important tool in the fight against cancer, it is not a guarantee of successful treatment or cure. However, it can significantly improve the odds of successful treatment and increase the chances of survival for many patients.

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

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

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

Adenomatous Polyposis Coli (APC) is a genetic disorder characterized by the development of numerous adenomatous polyps in the colon and rectum. APC is caused by mutations in the APC gene, which is a tumor suppressor gene that helps regulate cell growth and division. When the APC gene is mutated, it can lead to uncontrolled cell growth and the development of polyps, which can eventually become cancerous.

Individuals with APC typically develop hundreds to thousands of polyps in their colon and rectum, usually beginning in adolescence or early adulthood. If left untreated, APC can lead to colorectal cancer in nearly all affected individuals by the age of 40.

APC is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, some cases of APC may also occur spontaneously due to new mutations in the APC gene. Treatment for APC typically involves surgical removal of the colon and rectum (colectomy) to prevent the development of colorectal cancer. Regular surveillance with colonoscopy is also recommended to monitor for the development of new polyps.

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

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

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

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

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

Examples of biological tumor markers include:

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

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

Duodenal neoplasms refer to abnormal growths in the duodenum, which is the first part of the small intestine that receives digestive secretions from the pancreas and bile duct. These growths can be benign or malignant (cancerous).

Benign neoplasms include adenomas, leiomyomas, lipomas, and hamartomas. They are usually slow-growing and do not spread to other parts of the body. However, they may cause symptoms such as abdominal pain, bleeding, or obstruction of the intestine.

Malignant neoplasms include adenocarcinomas, neuroendocrine tumors (carcinoids), lymphomas, and sarcomas. They are more aggressive and can invade surrounding tissues and spread to other parts of the body. Symptoms may include abdominal pain, weight loss, jaundice, anemia, or bowel obstruction.

The diagnosis of duodenal neoplasms is usually made through imaging tests such as CT scans, MRI, or endoscopy with biopsy. Treatment depends on the type and stage of the tumor and may include surgery, chemotherapy, radiation therapy, or a combination of these modalities.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

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

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

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

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

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

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

Human chromosome pair 2 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. Chromosomes are the physical carriers of inheritance, and human cells typically contain 23 pairs of chromosomes for a total of 46 chromosomes.

Chromosome pair 2 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 2 is approximately 247 million base pairs in length and contains an estimated 1,000-1,300 genes. These genes play crucial roles in various biological processes, including development, metabolism, and response to environmental stimuli.

Abnormalities in chromosome pair 2 can lead to genetic disorders, such as cat-eye syndrome (CES), which is characterized by iris abnormalities, anal atresia, hearing loss, and intellectual disability. This disorder arises from the presence of an extra copy of a small region on chromosome 2, resulting in partial trisomy of this region. Other genetic conditions associated with chromosome pair 2 include proximal 2q13.3 microdeletion syndrome and Potocki-Lupski syndrome (PTLS).

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Adenosine triphosphatases (ATPases) are a group of enzymes that catalyze the conversion of adenosine triphosphate (ATP) into adenosine diphosphate (ADP) and inorganic phosphate. This reaction releases energy, which is used to drive various cellular processes such as muscle contraction, transport of ions across membranes, and synthesis of proteins and nucleic acids.

ATPases are classified into several types based on their structure, function, and mechanism of action. Some examples include:

1. P-type ATPases: These ATPases form a phosphorylated intermediate during the reaction cycle and are involved in the transport of ions across membranes, such as the sodium-potassium pump and calcium pumps.
2. F-type ATPases: These ATPases are found in mitochondria, chloroplasts, and bacteria, and are responsible for generating a proton gradient across the membrane, which is used to synthesize ATP.
3. V-type ATPases: These ATPases are found in vacuolar membranes and endomembranes, and are involved in acidification of intracellular compartments.
4. A-type ATPases: These ATPases are found in the plasma membrane and are involved in various functions such as cell signaling and ion transport.

Overall, ATPases play a crucial role in maintaining the energy balance of cells and regulating various physiological processes.

A "second primary neoplasm" is a distinct, new cancer or malignancy that develops in a person who has already had a previous cancer. It is not a recurrence or metastasis of the original tumor, but rather an independent cancer that arises in a different location or organ system. The development of second primary neoplasms can be influenced by various factors such as genetic predisposition, environmental exposures, and previous treatments like chemotherapy or radiation therapy.

It is important to note that the definition of "second primary neoplasm" may vary slightly depending on the specific source or context. In general medical usage, it refers to a new, separate cancer; however, in some research or clinical settings, there might be more precise criteria for defining and diagnosing second primary neoplasms.

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

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

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

Neoplasm invasiveness is a term used in pathology and oncology to describe the aggressive behavior of cancer cells as they invade surrounding tissues and organs. This process involves the loss of cell-to-cell adhesion, increased motility and migration, and the ability of cancer cells to degrade the extracellular matrix (ECM) through the production of enzymes such as matrix metalloproteinases (MMPs).

Invasive neoplasms are cancers that have spread beyond the original site where they first developed and have infiltrated adjacent tissues or structures. This is in contrast to non-invasive or in situ neoplasms, which are confined to the epithelial layer where they originated and have not yet invaded the underlying basement membrane.

The invasiveness of a neoplasm is an important prognostic factor in cancer diagnosis and treatment, as it can indicate the likelihood of metastasis and the potential effectiveness of various therapies. In general, more invasive cancers are associated with worse outcomes and require more aggressive treatment approaches.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

The term "family" in a medical context often refers to a group of individuals who are related by blood, marriage, or adoption and who consider themselves to be a single household. This can include spouses, parents, children, siblings, grandparents, and other extended family members. In some cases, the term may also be used more broadly to refer to any close-knit group of people who provide emotional and social support for one another, regardless of their biological or legal relationship.

In healthcare settings, understanding a patient's family dynamics can be important for providing effective care. Family members may be involved in decision-making about medical treatments, providing care and support at home, and communicating with healthcare providers. Additionally, cultural beliefs and values within families can influence health behaviors and attitudes towards medical care, making it essential for healthcare professionals to take a culturally sensitive approach when working with patients and their families.

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

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

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

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

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

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

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

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

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

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

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

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

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

Carcinoma is a type of cancer that develops from epithelial cells, which are the cells that line the inner and outer surfaces of the body. These cells cover organs, glands, and other structures within the body. Carcinomas can occur in various parts of the body, including the skin, lungs, breasts, prostate, colon, and pancreas. They are often characterized by the uncontrolled growth and division of abnormal cells that can invade surrounding tissues and spread to other parts of the body through a process called metastasis. Carcinomas can be further classified based on their appearance under a microscope, such as adenocarcinoma, squamous cell carcinoma, and basal cell carcinoma.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

Sensitivity and specificity are statistical measures used to describe the performance of a diagnostic test or screening tool in identifying true positive and true negative results.

* Sensitivity refers to the proportion of people who have a particular condition (true positives) who are correctly identified by the test. It is also known as the "true positive rate" or "recall." A highly sensitive test will identify most or all of the people with the condition, but may also produce more false positives.
* Specificity refers to the proportion of people who do not have a particular condition (true negatives) who are correctly identified by the test. It is also known as the "true negative rate." A highly specific test will identify most or all of the people without the condition, but may also produce more false negatives.

In medical testing, both sensitivity and specificity are important considerations when evaluating a diagnostic test. High sensitivity is desirable for screening tests that aim to identify as many cases of a condition as possible, while high specificity is desirable for confirmatory tests that aim to rule out the condition in people who do not have it.

It's worth noting that sensitivity and specificity are often influenced by factors such as the prevalence of the condition in the population being tested, the threshold used to define a positive result, and the reliability and validity of the test itself. Therefore, it's important to consider these factors when interpreting the results of a diagnostic test.

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

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

I'm sorry for any confusion, but "pilot projects" is not a medical term per se. Instead, it is a general term used in various fields, including healthcare and medicine, to describe a small-scale initiative that is implemented on a temporary basis to evaluate its feasibility, effectiveness, or impact before deciding whether to expand or continue it.

In the context of healthcare, pilot projects might involve testing new treatment protocols, implementing innovative care models, or introducing technology solutions in a limited setting to assess their potential benefits and drawbacks. The results of these projects can help inform decisions about broader implementation and provide valuable insights for improving the quality and efficiency of healthcare services.

Medical mass screening, also known as population screening, is a public health service that aims to identify and detect asymptomatic individuals in a given population who have or are at risk of a specific disease. The goal is to provide early treatment, reduce morbidity and mortality, and prevent the spread of diseases within the community.

A mass screening program typically involves offering a simple, quick, and non-invasive test to a large number of people in a defined population, regardless of their risk factors or symptoms. Those who test positive are then referred for further diagnostic tests and appropriate medical interventions. Examples of mass screening programs include mammography for breast cancer detection, PSA (prostate-specific antigen) testing for prostate cancer, and fecal occult blood testing for colorectal cancer.

It is important to note that mass screening programs should be evidence-based, cost-effective, and ethically sound, with clear benefits outweighing potential harms. They should also consider factors such as the prevalence of the disease in the population, the accuracy and reliability of the screening test, and the availability and effectiveness of treatment options.

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

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

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

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

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

Colorectal surgery is a medical specialty that deals with the diagnosis and treatment of disorders affecting the colon, rectum, and anus. This can include conditions such as colorectal cancer, inflammatory bowel disease (such as Crohn's disease or ulcerative colitis), diverticulitis, and anal fistulas or fissures.

The surgical procedures performed by colorectal surgeons may involve minimally invasive techniques, such as laparoscopic or robotic-assisted surgery, or more traditional open surgery. These procedures can range from removing polyps during a colonoscopy to complex resections of the colon, rectum, or anus.

Colorectal surgeons also work closely with other medical specialists, such as gastroenterologists, oncologists, and radiologists, to provide comprehensive care for their patients.

A point mutation is a type of genetic mutation where a single nucleotide base (A, T, C, or G) in DNA is altered, deleted, or substituted with another nucleotide. Point mutations can have various effects on the organism, depending on the location of the mutation and whether it affects the function of any genes. Some point mutations may not have any noticeable effect, while others might lead to changes in the amino acids that make up proteins, potentially causing diseases or altering traits. Point mutations can occur spontaneously due to errors during DNA replication or be inherited from parents.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Transforming Growth Factor beta (TGF-β) receptors are a group of cell surface receptors that bind to TGF-β ligands and transduce signals into the cell. These receptors play crucial roles in regulating various cellular processes, including cell growth, differentiation, apoptosis, and extracellular matrix production.

There are two types of TGF-β receptors: type I and type II. Type I receptors, also known as activin receptor-like kinases (ALKs), have serine/threonine kinase activity and include ALK1, ALK2, ALK3, ALK4, ALK5, and ALK6. Type II receptors are constitutively active serine/threonine kinases and include TGF-β RII, ActRII, and ActRIIB.

When a TGF-β ligand binds to a type II receptor, it recruits and phosphorylates a type I receptor, which in turn phosphorylates downstream signaling molecules called Smads. Phosphorylated Smads form complexes with co-Smad proteins and translocate to the nucleus, where they regulate gene expression.

Abnormalities in TGF-β signaling have been implicated in various human diseases, including fibrosis, cancer, and autoimmune disorders. Therefore, understanding the mechanisms of TGF-β receptor function is essential for developing therapeutic strategies to target these conditions.

I am not aware of a specific medical definition for the term "China." Generally, it is used to refer to:

1. The People's Republic of China (PRC), which is a country in East Asia. It is the most populous country in the world and the fourth largest by geographical area. Its capital city is Beijing.
2. In a historical context, "China" was used to refer to various dynasties and empires that existed in East Asia over thousands of years. The term "Middle Kingdom" or "Zhongguo" (中国) has been used by the Chinese people to refer to their country for centuries.
3. In a more general sense, "China" can also be used to describe products or goods that originate from or are associated with the People's Republic of China.

If you have a specific context in which you encountered the term "China" related to medicine, please provide it so I can give a more accurate response.

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

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

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

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

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

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

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

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

A sequence deletion in a genetic context refers to the removal or absence of one or more nucleotides (the building blocks of DNA or RNA) from a specific region in a DNA or RNA molecule. This type of mutation can lead to the loss of genetic information, potentially resulting in changes in the function or expression of a gene. If the deletion involves a critical portion of the gene, it can cause diseases, depending on the role of that gene in the body. The size of the deleted sequence can vary, ranging from a single nucleotide to a large segment of DNA.

The term "Asian Continental Ancestry Group" is a medical/ethnic classification used to describe a person's genetic background and ancestry. According to this categorization, individuals with origins in the Asian continent are grouped together. This includes populations from regions such as East Asia (e.g., China, Japan, Korea), South Asia (e.g., India, Pakistan, Bangladesh), Southeast Asia (e.g., Philippines, Indonesia, Thailand), and Central Asia (e.g., Kazakhstan, Uzbekistan, Tajikistan). It is important to note that this broad categorization may not fully capture the genetic diversity within these regions or accurately reflect an individual's specific ancestral origins.

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

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

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

"Age factors" refer to the effects, changes, or differences that age can have on various aspects of health, disease, and medical care. These factors can encompass a wide range of issues, including:

1. Physiological changes: As people age, their bodies undergo numerous physical changes that can affect how they respond to medications, illnesses, and medical procedures. For example, older adults may be more sensitive to certain drugs or have weaker immune systems, making them more susceptible to infections.
2. Chronic conditions: Age is a significant risk factor for many chronic diseases, such as heart disease, diabetes, cancer, and arthritis. As a result, age-related medical issues are common and can impact treatment decisions and outcomes.
3. Cognitive decline: Aging can also lead to cognitive changes, including memory loss and decreased decision-making abilities. These changes can affect a person's ability to understand and comply with medical instructions, leading to potential complications in their care.
4. Functional limitations: Older adults may experience physical limitations that impact their mobility, strength, and balance, increasing the risk of falls and other injuries. These limitations can also make it more challenging for them to perform daily activities, such as bathing, dressing, or cooking.
5. Social determinants: Age-related factors, such as social isolation, poverty, and lack of access to transportation, can impact a person's ability to obtain necessary medical care and affect their overall health outcomes.

Understanding age factors is critical for healthcare providers to deliver high-quality, patient-centered care that addresses the unique needs and challenges of older adults. By taking these factors into account, healthcare providers can develop personalized treatment plans that consider a person's age, physical condition, cognitive abilities, and social circumstances.

Fungal proteins are a type of protein that is specifically produced and present in fungi, which are a group of eukaryotic organisms that include microorganisms such as yeasts and molds. These proteins play various roles in the growth, development, and survival of fungi. They can be involved in the structure and function of fungal cells, metabolism, pathogenesis, and other cellular processes. Some fungal proteins can also have important implications for human health, both in terms of their potential use as therapeutic targets and as allergens or toxins that can cause disease.

Fungal proteins can be classified into different categories based on their functions, such as enzymes, structural proteins, signaling proteins, and toxins. Enzymes are proteins that catalyze chemical reactions in fungal cells, while structural proteins provide support and protection for the cell. Signaling proteins are involved in communication between cells and regulation of various cellular processes, and toxins are proteins that can cause harm to other organisms, including humans.

Understanding the structure and function of fungal proteins is important for developing new treatments for fungal infections, as well as for understanding the basic biology of fungi. Research on fungal proteins has led to the development of several antifungal drugs that target specific fungal enzymes or other proteins, providing effective treatment options for a range of fungal diseases. Additionally, further study of fungal proteins may reveal new targets for drug development and help improve our ability to diagnose and treat fungal infections.

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

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

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

Neoplasms: Neoplasms refer to abnormal growths of tissue that can be benign (non-cancerous) or malignant (cancerous). They occur when the normal control mechanisms that regulate cell growth and division are disrupted, leading to uncontrolled cell proliferation.

Cystic Neoplasms: Cystic neoplasms are tumors that contain fluid-filled sacs or cysts. These tumors can be benign or malignant and can occur in various organs of the body, including the pancreas, ovary, and liver.

Mucinous Neoplasms: Mucinous neoplasms are a type of cystic neoplasm that is characterized by the production of mucin, a gel-like substance produced by certain types of cells. These tumors can occur in various organs, including the ovary, pancreas, and colon. Mucinous neoplasms can be benign or malignant, and malignant forms are often aggressive and have a poor prognosis.

Serous Neoplasms: Serous neoplasms are another type of cystic neoplasm that is characterized by the production of serous fluid, which is a thin, watery fluid. These tumors commonly occur in the ovary and can be benign or malignant. Malignant serous neoplasms are often aggressive and have a poor prognosis.

In summary, neoplasms refer to abnormal tissue growths that can be benign or malignant. Cystic neoplasms contain fluid-filled sacs and can occur in various organs of the body. Mucinous neoplasms produce a gel-like substance called mucin and can also occur in various organs, while serous neoplasms produce thin, watery fluid and commonly occur in the ovary. Both mucinous and serous neoplasms can be benign or malignant, with malignant forms often being aggressive and having a poor prognosis.

Sigmoidoscopy is a medical procedure that involves the insertion of a sigmoidoscope, a flexible tube with a light and camera at the end, into the rectum and lower colon (sigmoid colon) to examine these areas for any abnormalities such as inflammation, ulcers, polyps, or cancer. The procedure typically allows for the detection of issues in the sigmoid colon and rectum, and can help diagnose conditions such as inflammatory bowel disease, diverticulosis, or colorectal cancer.

There are two types of sigmoidoscopy: flexible sigmoidoscopy and rigid sigmoidoscopy. Flexible sigmoidoscopy is more commonly performed because it provides a better view of the lower colon and is less uncomfortable for the patient. Rigid sigmoidoscopy, on the other hand, uses a solid, inflexible tube and is typically used in specific situations such as the removal of foreign objects or certain types of polyps.

During the procedure, patients are usually positioned on their left side with their knees drawn up to their chest. The sigmoidoscope is gently inserted into the rectum and advanced through the lower colon while the doctor examines the lining for any abnormalities. Air may be introduced through the scope to help expand the colon and provide a better view. If polyps or other abnormal tissues are found, they can often be removed during the procedure for further examination and testing.

Sigmoidoscopy is generally considered a safe and well-tolerated procedure. Some patients may experience mild discomfort, bloating, or cramping during or after the exam, but these symptoms typically resolve on their own within a few hours.

Adenomatous polyps, also known as adenomas, are benign (noncancerous) growths that develop in the lining of the glandular tissue of certain organs, most commonly occurring in the colon and rectum. These polyps are composed of abnormal glandular cells that can grow excessively and form a mass.

Adenomatous polyps can vary in size, ranging from a few millimeters to several centimeters in diameter. They may be flat or have a stalk (pedunculated). While adenomas are generally benign, they can potentially undergo malignant transformation and develop into colorectal cancer over time if left untreated. The risk of malignancy increases with the size of the polyp and the presence of certain histological features, such as dysplasia (abnormal cell growth).

Regular screening for adenomatous polyps is essential to detect and remove them early, reducing the risk of colorectal cancer. Screening methods include colonoscopy, sigmoidoscopy, and stool-based tests.

Adenocarcinoma, mucinous is a type of cancer that begins in the glandular cells that line certain organs and produce mucin, a substance that lubricates and protects tissues. This type of cancer is characterized by the presence of abundant pools of mucin within the tumor. It typically develops in organs such as the colon, rectum, lungs, pancreas, and ovaries.

Mucinous adenocarcinomas tend to have a distinct appearance under the microscope, with large pools of mucin pushing aside the cancer cells. They may also have a different clinical behavior compared to other types of adenocarcinomas, such as being more aggressive or having a worse prognosis in some cases.

It is important to note that while a diagnosis of adenocarcinoma, mucinous can be serious, the prognosis and treatment options may vary depending on several factors, including the location of the cancer, the stage at which it was diagnosed, and the individual's overall health.

Fluorouracil is a antineoplastic medication, which means it is used to treat cancer. It is a type of chemotherapy drug known as an antimetabolite. Fluorouracil works by interfering with the growth of cancer cells and ultimately killing them. It is often used to treat colon, esophageal, stomach, and breast cancers, as well as skin conditions such as actinic keratosis and superficial basal cell carcinoma. Fluorouracil may be given by injection or applied directly to the skin in the form of a cream.

It is important to note that fluorouracil can have serious side effects, including suppression of bone marrow function, mouth sores, stomach and intestinal ulcers, and nerve damage. It should only be used under the close supervision of a healthcare professional.

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

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

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

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

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

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

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

Intestinal polyps are abnormal growths that protrude from the lining of the intestines. They can occur in any part of the digestive tract, including the colon and rectum (colorectal polyps), small intestine, or stomach. These growths vary in size, shape, and number. Most intestinal polyps are benign, meaning they are not cancerous. However, some types of polyps, such as adenomatous polyps, can become cancerous over time if left untreated.

Intestinal polyps can be asymptomatic or cause symptoms like rectal bleeding, abdominal pain, changes in bowel habits, or anemia (in cases where there is chronic, slow bleeding). The exact cause of intestinal polyps is not fully understood, but factors such as age, family history, and certain genetic conditions can increase the risk of developing them. Regular screening exams, like colonoscopies, are essential for early detection and removal of polyps to prevent potential complications, including colorectal cancer.

Organoplatinum compounds are a group of chemical substances that contain at least one carbon-platinum bond. These compounds have been widely studied and used in the field of medicine, particularly in cancer chemotherapy. The most well-known organoplatinum compound is cisplatin, which is a platinum-based drug used to treat various types of cancers such as testicular, ovarian, bladder, and lung cancers. Cisplatin works by forming crosslinks with the DNA of cancer cells, disrupting their ability to replicate and ultimately leading to cell death. Other examples of organoplatinum compounds used in cancer treatment include carboplatin and oxaliplatin.

... colorectal neoplasms, hereditary nonpolyposis MeSH C04.588.274.476.411.307.790 - rectal neoplasms MeSH C04.588.274.476.411.307. ... cecal neoplasms MeSH C04.588.274.476.411.184.290 - appendiceal neoplasms MeSH C04.588.274.476.411.307 - colorectal neoplasms ... skull base neoplasms MeSH C04.588.149.828 - spinal neoplasms MeSH C04.588.180.260 - breast neoplasms, male MeSH C04.588.180.390 ... bile duct neoplasms MeSH C04.588. - common bile duct neoplasms MeSH C04.588.274.120.401 - gallbladder neoplasms ...
... sigmoid neoplasms MeSH C06.301.371.411.307.190 - colorectal neoplasms, hereditary nonpolyposis MeSH C06.301.371.411.307.790 - ... sigmoid neoplasms MeSH C06.405.249.411.307.190 - colorectal neoplasms, hereditary nonpolyposis MeSH C06.405.249.411.307.790 - ... sigmoid neoplasms MeSH C06.405.469.491.307.190 - colorectal neoplasms, hereditary nonpolyposis MeSH C06.405.469.491.307.790 - ... sigmoid neoplasms MeSH C06.405.469.158.356.190 - colorectal neoplasms, hereditary nonpolyposis MeSH C06.405.469.158.587 - ...
... colorectal neoplasms, hereditary nonpolyposis MeSH C18.452.284.280 - fanconi anemia MeSH C18.452.284.520 - Li-Fraumeni syndrome ... hereditary MeSH C18.452.648.437.281 - Crigler-Najjar syndrome MeSH C18.452.648.437.528 - gilbert disease MeSH C18.452.648.499 ... hereditary MeSH C18.452.648.735.150 - porphyria, acute intermittent MeSH C18.452.648.735.250 - porphyria cutanea tarda MeSH ... hereditary, leber MeSH C18.452.660.520 - Leigh disease MeSH C18.452.660.560 - mitochondrial myopathies MeSH C18.452.660.560.620 ...
... colorectal neoplasms, hereditary nonpolyposis MeSH C16.320.700.305 - dysplastic nevus syndrome MeSH C16.320.700.330 - exostoses ... hereditary MeSH C16.320.290.564.400 - optic atrophy, hereditary, leber MeSH C16.320.290.564.500 - optic atrophy, autosomal ... hereditary central nervous system demyelinating diseases MeSH C16.320.400.400 - hereditary motor and sensory neuropathies MeSH ... hereditary MeSH C16.320.400.630.400 - optic atrophy, hereditary, leber MeSH C16.320.400.630.500 - optic atrophy, autosomal ...
... and sebaceous neoplasms. Increased risk of prostate cancer and breast cancer has also been associated with Lynch syndrome, ... Pathology of Hereditary Nonpolyposis Colorectal Cancer - JASS 910 (1): 62 - Annals of the New York Academy of Sciences Archived ... Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic condition that is ... January 2001). "Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation- ...
... such as hereditary nonpolyposis colorectal cancer, as a precancerous condition, as individuals with these conditions have a ... cervical intraepithelial neoplasm, CIN) vaginal intraepithelial neoplasm (VAIN) anal dysplasia (also see: anal cancer) lichen ... hereditary nonpolyposis colorectal cancer Ulcerative colitis Crohn's disease Respiratory Bronchial premalignant lesions ... Hereditary conditions that are risk factors to cancer can also be risk factors to premalignant lesions. However, in many cases ...
Hereditary nonpolyposis colorectal cancer (HNPCC, also known as Lynch syndrome) is a hereditary colorectal cancer syndrome. It ... Paris classification of colorectal neoplasms In colonoscopy, colorectal polyps can be classified by NICE (Narrow-band imaging ... Untreated colorectal polyps can develop into colorectal cancer. Colorectal polyps are often classified by their behaviour (i.e ... Hereditary nonpolyposis colorectal cancer Peutz-Jeghers syndrome Juvenile polyposis syndrome Several genes have been associated ...
It is also linked to hereditary nonpolyposis colorectal cancer (Lynch syndrome). It is not the same as "adenoma sebaceum" by F ... v t e (Articles with short description, Short description is different from Wikidata, Epidermal nevi, neoplasms, and cysts, All ... Sebaceous carcinoma Sebaceous hyperplasia List of cutaneous conditions List of cutaneous neoplasms associated with systemic ... stub articles, Epidermal nevi, neoplasm, cyst stubs). ...
... and in hereditary nonpolyposis colorectal cancer. In the latter, the most common site for Fordyce spots is the lower gingiva ( ... The pathologist must be careful to differentiate such lesions from salivary neoplasms with sebaceous cells, such as sebaceous ...
Peltomäki P, de la Chapelle A (1997). Mutations predisposing to hereditary nonpolyposis colorectal cancer. pp. 93-119. doi: ... "Clinicopathological relevance of the association between gastrointestinal and sebaceous neoplasms: the Muir-Torre syndrome". ... It is a gene commonly associated with hereditary nonpolyposis colorectal cancer. Orthologs of human MLH1 have also been studied ... This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer. It is a human homolog of the E ...
Alport syndrome Colorectal cancer due to hereditary nonpolyposis colorectal cancer Congenital adrenal hyperplasia (nonclassical ... "Myeloproliferative Neoplasms". Cancer Network. "Ashkenazi Disorders: Mendelian - Nonsyndromic Hearing Loss and Deafness, DFNB1 ... Hereditary diseases, particularly hemophilia, were recognized early in Jewish history, even being described in the Talmud. ... "Ashkenazi Jews and Colorectal Cancer". The Chicago Center for Jewish Genetic Disorders. "Ashkenazi Disorders: Mendelian - Non- ...
The most frequent mutations in Hereditary nonpolyposis colorectal cancer (HNPCC) are mutations in the MSH2 and MLH1 genes. ... 1996). "Spontaneous intestinal carcinomas and skin neoplasms in Msh2-deficient mice". Cancer Res. 56 (16): 3842-9. PMID 8706033 ... Mouse models of colorectal cancer and intestinal cancer are experimental systems in which mice are genetically manipulated, fed ... 2002). "Colorectal cancer in mice genetically deficient in the mucin Muc2". Science. 295 (5560): 1726-9. Bibcode:2002Sci... ...
... and hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome), which is present in about 3% of people with colorectal ... They form a subset of neoplasms. A neoplasm or tumor is a group of cells that have undergone unregulated growth and will often ... The vast majority of cancers are non-hereditary (sporadic). Hereditary cancers are primarily caused by an inherited genetic ... "Screening for Colorectal Cancer". U.S. Preventive Services Task Force. 2008. Archived from the original on 7 February 2015. ...
... and rare hereditary conditions such as hereditary nonpolyposis colorectal cancer. Protective factors include use of combined ... Progression of EIN to carcinoma, effectively a conversion from a benign neoplasm to a malignant neoplasm, is accomplished ...
The most common of these is hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome) which is present in about 3% ... As summarized in the articles Carcinogenesis and Neoplasm, for sporadic cancers in general, a deficiency in DNA repair is ... of the inherited genetic disorders that can cause colorectal cancer include familial adenomatous polyposis and hereditary non-polyposis ... "Colorectal Cancer Atlas". Archived from the original on January 13, 2016. Wikimedia Commons has media related to Colorectal ...
Complications with other cancers such as hereditary nonpolyposis colorectal cancer, also known as the Lynch syndrome, increases ... The cysts are approximately 2 cm in diameter and populated throughout the tissue which results in giving the neoplasm a ' ...
... but not in hereditary nonpolyposis colorectal cancer". Clinical Cancer Research. 10 (1 Pt 1): 191-195. doi:10.1158/1078-0432. ... a benign but locally infiltrative odontogenic neoplasm. The V600E mutation may also be linked, as a single-driver mutation (a ... Upon targeted inhibition of BRAF and/or EGFR in BRAF V600E colorectal cancer, SRC kinases become activated in a systematic ... This mutation has been widely observed in papillary thyroid carcinoma, colorectal cancer, melanoma and non-small-cell lung ...
... hereditary nonpolyposis colorectal cancer, Peutz-Jeghers syndrome Cholecystectomy, which alters the flow of bile to the small ... a colorectal cancer sibling?". Am. J. Gastroenterol. 100 (3): 703-10. PMID 15743371. Chen AC, Neugut AI. Malignant Neoplasms of ... Five-year survival rates are 65%. Experts believe that small intestine cancer develops much like colorectal cancer. It first ... while cancer of the jejunum and ileum have more in common with colorectal cancer. ...
... hereditary non-polyposis colon cancer (Lynch syndrome); and familial adenomatous polyposis. PanNETs have been associated with ... Pancreatic mucinous cystic neoplasms are a broad group of pancreas tumors that have varying malignant potential. They are being ... Kidney cancer is by far the most common cancer to spread to the pancreas, followed by colorectal cancer, and then cancers of ... Instead, hereditary MEN1 gene mutations give risk to MEN1 syndrome, in which primary tumors occur in two or more endocrine ...
... hereditary nonpolyposis colorectal cancer or familial adenomatous polyposis.: 619-620 Colorectal cancer can be detected through ... from patients who had never had a gastric malignant neoplasm), non-tumor tissue adjacent to a gastric cancer, and gastric ... Colorectal cancer is a disease of old age: It typically originates in the secretory cells lining the gut, and risk factors ... Colorectal cancer has a comparatively good prognosis when detected early.: 911-912 An important anatomic landmark in anal ...
... hereditary leiomyomatosis and renal cell cancer syndrome - hereditary mutation - hereditary nonpolyposis colon cancer - ... Colorectal cancer (colon cancer) - colon polyp - colonoscope - colonoscopy - colony-stimulating factor - colorectal - ... neoplasm - nephrotomogram - nephrotoxic - nephroureterectomy - nerve block - nerve grafting - nerve-sparing radical ... Hürthle cell neoplasm - hydrazine sulfate - hydromorphone - hydronephrosis - hydroureter - hydroxychloroquine - hydroxyurea - ...
HNPCC (hereditary nonpolyposis colorectal cancer), also known as lynch syndrome, leads to an increased risk of developing ... Ureteral neoplasm, a type of tumor that can be primary, or associated with a metastasis from another site Urethral cancer, ...
... or other gastrointestinal cancers may indicate the presence of a syndrome known as hereditary nonpolyposis colorectal cancer ( ... They can develop further into a variety of other neoplasms, including choriocarcinoma, yolk sac tumor, and teratoma. They occur ... Women with hereditary nonpolyposis colon cancer (Lynch syndrome), and those with BRCA-1 and BRCA-2 genetic abnormalities are at ... Some family cancer syndromes such as hereditary nonpolyposis colon cancer and Peutz-Jeghers syndrome also increase the risk of ...
Colorectal Neoplasms, Hereditary Nonpolyposis, Epidemiology, Colonoscopy, Genetics, Colorectal Neoplasms, Gastroenterology ... Head and Neck Neoplasms, Epidemiology, Molecular Biology, Medical Oncology, Gynecology, General Surgery, HPV, Prueba del VPH y ... Obesity, Epidemiology, Genital Neoplasms, Female, 52503, Nursing, 52503, Psychology, Etiología, Aspectos moleculares de la ...
... colorectal neoplasms, hereditary nonpolyposis MeSH C04.588.274.476.411.307.790 - rectal neoplasms MeSH C04.588.274.476.411.307. ... cecal neoplasms MeSH C04.588.274.476.411.184.290 - appendiceal neoplasms MeSH C04.588.274.476.411.307 - colorectal neoplasms ... skull base neoplasms MeSH C04.588.149.828 - spinal neoplasms MeSH C04.588.180.260 - breast neoplasms, male MeSH C04.588.180.390 ... bile duct neoplasms MeSH C04.588. - common bile duct neoplasms MeSH C04.588.274.120.401 - gallbladder neoplasms ...
... which are collectively referred to as colorectal cancer. Explore symptoms, inheritance, genetics of this condition. ... often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types ... Familial nonpolyposis colon cancer. *Hereditary nonpolyposis colorectal cancer. *Hereditary nonpolyposis colorectal neoplasms ... Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the ...
Malignant neoplasms of the small bowel are among the rarest types of cancer, accounting for only 2% of all GI cancers. Research ... Aside from colorectal carcinoma, patients with hereditary nonpolyposis colorectal cancer also develop endometrial, gastric, ... The most commonly mutated genes in the germline of patients with hereditary nonpolyposis colorectal cancer are HMLH1 and HMSH2 ... The lifetime risk of small-bowel adenocarcinoma in patients with hereditary nonpolyposis colorectal cancer is 1-4%, which is ...
Colorectal Neoplasms, Hereditary Nonpolyposis, Epidemiology, Colonoscopy, Genetics, Colorectal Neoplasms, Gastroenterology ... Breast Neoplasms, Prostatic Neoplasms, Thoracic Neoplasms, Neoplasia gastrointestinales, Atención Integral, Medicina ... Head and Neck Neoplasms, Diagnosis, Medical Oncology, Otolaryngology, Factores pronóstico IV Jornada Paulista de Mastologia ...
Colorectal Neoplasms, Hereditary Nonpolyposis 1 0 Diabetes Mellitus, Type 1 1 0 ... Central Nervous System Neoplasms 1 0 Note: The number of publications displayed in this table will differ from the number ...
Hereditary Nonpolyposis Colorectal Neoplasms 100% * Genetic Markers 79% * Endometrial Neoplasms 78% * Colorectal Neoplasms 60% ... Pancreatic Cystic Neoplasms: Translating Guidelines into Clinical Practice. Mohapatra, S., Krishna, S. G. & Pannala, R., Feb ... Methylated DNA Markers for Sporadic Colorectal and Endometrial Cancer Are Strongly Associated with Lynch Syndrome Cancers. ... Interobserver agreement of the modified Paris classification and histology prediction of colorectal lesions in patients with ...
Hereditary Nonpolyposis Colorectal Neoplasms 100% * DNA Mismatch Repair 63% * Colorectal Neoplasms 60% ... screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal ... screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal ...
Neoplasms 82% * Age of Onset 68% * Hereditary Nonpolyposis Colorectal Neoplasms 47% * Colorectal Neoplasms 29% ... Hemminki, K., Li, X., Försti, A. & Eng, C., 2023 Dec, In: Hereditary Cancer in Clinical Practice. 21, 1, 3.. Research output: ...
Urinary Bladder Neoplasms. *Colorectal Neoplasms, Hereditary Nonpolyposis. *Macaca mulatta. *Viral Vaccines. *Simian ...
Colorectal cancer (CRC) is a deadly form of cancer worldwide. Heat shock protein 70 (Hsp70) belongs to the family of human HSPs ... Prognostic Significance of the Hsp70 Gene Family in Colorectal Cancer Wenjun Jiang 1AC* , Xiaohang Pan 2BF* , Haifan Yan 1EF , ...
Colorectal Neoplasms, Hereditary Nonpolyposis [C18.452.284.255] Colorectal Neoplasms, Hereditary Nonpolyposis * Fanconi Anemia ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and ...
Article Colorectal Neoplasms, Hereditary Nonpolyposis Cost-Benefit Analysis Early Detection Of Cancer Genetic Testing Humans ... Evaluating the role of public health in implementation of genomics-related recommendations: a case study in hereditary cancers ... Title : Evaluating the role of public health in implementation of genomics-related recommendations: a case study in hereditary ... "Evaluating the role of public health in implementation of genomics-related recommendations: a case study in hereditary cancers ...
Familial Nonpolyposis Colon Cancer use Colorectal Neoplasms, Hereditary Nonpolyposis Familial Olivopontocerebellar Atrophies ... Familial Dysautonomia, Type 2 use Hereditary Sensory and Autonomic Neuropathies Familial Dysautonomia, Type II use Hereditary ...
... is the most common form of hereditary colorectal cancer. It is inherited as an autosomal dominant syndrome (see the image below ... Hereditary Nonpolyposis Colorectal Cancer * Rectal Cancer * Colon Cancer * Pediatric Gastrointestinal Neoplasms * Intestinal ... encoded search term (Hereditary Nonpolyposis Colorectal Cancer) and Hereditary Nonpolyposis Colorectal Cancer What to Read Next ... Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancer. It is inherited as ...
... is the most common form of hereditary colorectal cancer. It is inherited as an autosomal dominant syndrome (see the image below ... Pediatric Colorectal Tumors * Hereditary Nonpolyposis Colorectal Cancer * Rectal Cancer * Pediatric Gastrointestinal Neoplasms ... encoded search term (Hereditary Nonpolyposis Colorectal Cancer) and Hereditary Nonpolyposis Colorectal Cancer What to Read Next ... Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancer. It is inherited as ...
MTS is related to hereditary non-polyposis colorectal cancer (HNPCC), a syndrome with germline mutations in the mismatch repair ... The EBV-SMTs showed features compatible with a benign or at least a low-malignant potential neoplasm. A peculiar feature ... Interestingly, EBV status differed in the neoplasms, since the EBV-SMTs were negative for LMP1 and positive for EBER, whereas ... However, since only a minority of sebaceous neoplasms in patients who also have an extracutaneous cancer display MMR defects, ...
Colorectal Neoplasms, Hereditary Nonpolyposis/surgery , Proctocolectomy, Restorative/methods , Retrospective Studies ... Hereditary colorectal cancer accounts for approximately 5% of all colorectal cancer cases, mainly including familial ... Adult , Aged , Female , Humans , Male , Middle Aged , Colonoscopy , Colorectal Neoplasms , Diagnosis , Pathology , Therapeutics ... Adult , Aged , Female , Humans , Male , Middle Aged , Anal Canal , General Surgery , Neoplasm Staging , Rectal Neoplasms , ...
Maybe one of your patients can join a new clinical trial in colorectal cancer. ... Hereditary Nonpolyposis Colorectal Cancer * Colorectal Cancer and KRAS/BRAF * Colorectal Tumors in Adolescents and Young Adults ... can stave off the development of colorectal neoplasms. Lynch syndrome carries a 15% to 80% lifetime risk for colorectal cancer. ... Stage I-III colorectal cancer diagnosed in past 12 months. Adults with this type of cancer who have completed standard ...
Neoplasm: Adenocarcinoma. *Familial adenomatous polyposis. *Hereditary nonpolyposis colorectal cancer. Anus. *Squamous cell ... Colorectal polyp: adenoma, hyperplastic, juvenile, sessile serrated adenoma, traditional serrated adenoma, Peutz-Jeghers, ... Chemotherapy commonly used is similar to other squamous cell epithelial neoplasms, such as platinum analogues, anthracyclines ... "Risk of anal cancer in a cohort with human papillomavirus-related gynecologic neoplasm". Obstetrics and Gynecology. 117 (3): ...
... and hereditary nonpolyposis colorectal cancer [7].. Leiomyosarcoma arising in the GI tract accounts for 1% to 2% of GI ... Small intestinal malignant tumors are rare and comprise less than 3% of all primary GI neoplasms [4]. There are several ...
Neoplasm Staging Neoplasms, Second Primary Pedigree Survival Rate Abstract. The frequency of hereditary nonpolyposis colorectal ... Anus Neoplasms - epidemiology Colorectal Neoplasms - epidemiology - genetics - mortality - pathology Family Female Humans ... The frequency of hereditary nonpolyposis colorectal cancer was 3.1% (12 families) in this group (Ci95 1.6-5.3%). Clinical ... Frequency of hereditary nonpolyposis colorectal cancer in southern Alberta. https://arctichealth.org/en/permalink/ ...
Hereditary non-polyposis colorectal cancer (HNPCC) syndrome] and promotor hypermethylation, it shows widely similarity for UTUC ... Urothelial carcinoma (UC) is the most common epithelial neoplasm arising from the entire urothelium of the urinary tract ... urinary tract urothelial cell carcinomas and other urological malignancies involved in the hereditary nonpolyposis colorectal ... Serum granulocyte macrophage-colony stimulating factor: a tumor marker in colorectal carcinoma?. Asian Pac J Cancer Prev. 2009; ...
... but not in hereditary nonpolyposis colorectal cancer". Clin. Cancer Res. 10 (1 Pt 1): 191-5. ... a benign but locally infiltrative odontogenic neoplasm.[10] The V600E mutation may also be linked, as a single-driver mutation ... in colorectal cancer.[4] In 90% of the cases, thymine is substituted with adenine at nucleotide 1799. This leads to valine (V) ... colorectal cancer, melanoma and non-small-cell lung cancer.[4][5][6][7] BRAF-V600E mutation are present in 57% of Langerhans ...
Use this page to view details for the Proposed Decision Memo for Screening DNA Stool Test for Colorectal Cancer (CAG-00144N). ... family history of hereditary nonpolyposis colorectal cancer, (4) personal history of adenomatous polyps; (5) personal history ... "Although many samples collected 1-3 months after surgical resection of the colorectal neoplasm tested positive on the MTAP, ... Clinical Colorectal Cancer 2003;3:47-43.. U.S. Preventive Services Task Force. Screening for colorectal cancer: recommendations ...
Take advantage of our experts and learn about neoplasms of the gastrointestinal system! This course covers all essentials: ... Lynch syndrome, also called hereditary non-polyposis colorectal cancer (HNPCC), is the most common inherited colon cancer ... Colorectal Cancer Colorectal cancer (CRC) is the 2nd leading cause of cancer-related deaths in the United States. Colorectal ... Colorectal Cancer Screening (Clinical) Colorectal cancer (CRC) is the 2nd-leading cause of cancer-related death in the United ...
Hereditary Nonpolyposis Colorectal Cancer 100% * Systematic Review 100% * Endometrial Cancer 100% * DNA Mismatch Repair 28% ...
How familiar are you with colorectal cancer screening? Check your knowledge with this quick quiz. ... Hereditary Nonpolyposis Colorectal Cancer * Colorectal Cancer and KRAS/BRAF * Colorectal Tumors in Adolescents and Young Adults ... Diversity, Equity, and Inclusion in Colorectal Cancer Treatment * Fast Five Quiz: How Much Do You Know About Colorectal Cancer? ... Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer-related death worldwide. In 2020 ...
... hereditary non-polyposis colon cancer or Hereditary Non-Polyposis Colorectal Cancer (HNPCC));. • A personal history of getting ... smear testing for cervical neoplasms and premalignant lesions. ... A confirmed or suspected hereditary colorectal cancer syndrome ... A personal history of colorectal cancer or certain types of polyps;. • A family history of colorectal cancer or advanced ... Colorectal Cancer. The following cancer screenings and frequencies are covered for individuals at average ...
  • Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common form of hereditary colorectal cancer. (medscape.com)
  • HNPCC, accounts for 2-5% of all colorectal carcinomas. (medscape.com)
  • Over 90% of all colorectal cancers in HNPCC patients demonstrate a high microsatellite instability (MSI-H), which means at least 2 or more genes have been mutated in HNPCC families or atypical HNPCC families. (medscape.com)
  • The widespread implementation of colorectal tumor testing helps to identify families with HNPCC or Lynch syndrome. (medscape.com)
  • In hereditary nonpolyposis colorectal cancer (HNPCC), an inherited mutation in one of the DNA mismatch repair (MMR) genes appears to be a critical factor. (medscape.com)
  • ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). (medlineplus.gov)
  • Malignant neoplasms of the small bowel are among the rarest types of cancer, accounting for 4% of all GI cancers. (medscape.com)
  • Each part has subsets of benign and malignant neoplasms that can cause various complications. (lecturio.com)
  • In addition, they tend to co-occur in the same individuals, with an increased risk of small-bowel adenocarcinoma in survivors of colorectal cancer and vice versa. (medscape.com)
  • In 1966, Dr. Lynch and colleagues described familial aggregation of colorectal cancer with stomach and endometrial tumors in 2 extended kindreds and named it cancer family syndrome. (medscape.com)
  • Lynch syndrome carries a 15% to 80% lifetime risk for colorectal cancer. (medscape.com)
  • Before molecular genetic diagnostics became available in the 1990s, a comprehensive family history was the only basis from which to estimate the familial risk of colorectal cancer. (medscape.com)
  • The combination is currently indicated for the treatment of adults with metastatic colorectal cancer that has a BRAF V600E mutation. (medscape.com)
  • large intestine) and rectum, which are collectively referred to as colorectal cancer. (medlineplus.gov)
  • BRAF was mutated in 7.6% of colorectal cancer and 9.1% of SBA samples, but V600E mutations were much less common in SBA, representing only 10.3% of BRAF -mutated cases. (medscape.com)
  • New Trials in Colorectal Cancer: Could Your Patient Benefit? (medscape.com)
  • Several clinical trials in colorectal cancer have started recently. (medscape.com)
  • Studies in patients with advanced colorectal cancer harboring BRAF mutations have shown favorable responses to [this] combination," Goldberg said. (medscape.com)
  • Colorectal cancer with at least one measurable tumor. (medscape.com)
  • Frequency of hereditary nonpolyposis colorectal cancer in southern Alberta. (arctichealth.org)
  • The frequency of hereditary nonpolyposis colorectal cancer was evaluated in a group of colorectal cancer patients under age 50 diagnosed in southern Alberta between 1973 and 1987. (arctichealth.org)
  • Families were identified as positive for this syndrome if three first-degree relatives in the kindred had colorectal cancer. (arctichealth.org)
  • Colorectal cancer (CRC) is the 2nd-leading cause of cancer-related death in the United States. (lecturio.com)
  • Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer-related death worldwide. (medscape.com)
  • Fast Five Quiz: Colorectal Cancer Screening - Medscape - Jan 27, 2023. (medscape.com)
  • Can Lifestyle Changes Reduce Colorectal Cancer Risk? (medscape.com)
  • SAN FRANCISCO ― Most cases of colorectal cancer are preceded by adenomas. (medscape.com)
  • Epidemiology, Biostatistics, Al finalizar el curso los cursantes deberán estar en condiciones de interpretar y realizar análisis crítico de la literatura científica elaborada según el método hipotético deductivo. (bvsalud.org)
  • Colorectal tumor testing could yield substantial benefits at acceptable cost. (medscape.com)
  • Hereditary Colorectal Cancer: Genetics and Screening. (nih.gov)
  • Neoplasms that were suspicious for invasive malignancy were not removed (this included those with an ulcerated, indurated or friable mucosa, where the neoplasm failed to lift, or it failed to move separate to the colonic wall). (medscape.com)
  • We identified consecutive patients who were referred for endoscopic resection of colorectal neoplasms 20 mm or larger from January 2001 to February 2008. (medscape.com)
  • Neoplasm size was based on endoscopist assessment at the time of colonoscopy. (medscape.com)
  • Participant is due to undergo a standard of care lower gastrointestinal (GI) colonoscopy for detection and removal of colorectal polyps. (who.int)
  • nonetheless, the incidence of pediatric colorectal tumors is rising. (medscape.com)
  • All sessile neoplasms were removed by endoscopic mucosal resection (EMR). (medscape.com)
  • For sessile neoplasms, the practice was to attempt resection of a small cuff of normal tissue at the neoplasm margin. (medscape.com)
  • An attempt was made to perform sequential submucosal injection and resection, moving from one side of the neoplasm across until the neoplasm was completely removed. (medscape.com)
  • In patients who underwent piecemeal resection, or if adenomatous appearing tissue was present on completion, argon-plasma coagulation (APC) was used to treat the margins (APC settings varied 40-70 W at 2 L/min depending on the site of the neoplasm). (medscape.com)
  • Cite this: Outcomes of Endoscopic Resection of Large Colorectal Neoplasms: An Australian Experience - Medscape - Jan 01, 2010. (medscape.com)
  • For these reasons iFOBT has better specificity and equal or better sensitivity than gFOBT for the detection of colorectal neoplasms (9,10). (cdc.gov)
  • Colorectal neoplasms were classified as pedunculated/polypoid (if they protruded above the surrounding colonic mucosa and the base was narrow) or sessile/non-polypoid (where the base and the top of the lesion had the same diameter). (medscape.com)
  • This study evaluated whether the newer immunochemical FOBT (iFOBT) resulted in a lower false-positive rate and higher specificity for detecting advanced colorectal neoplasia than gFOBT in a population with elevated prevalence of H. pylori infection. (cdc.gov)
  • Molecular diagnostics in the neoplasms of small intestine and appendix. (medscape.com)
  • Women with gonads that contain a Y chromosome have a 25% chance of developing a malignant neoplasm (most commonly a dysgerminoma). (medscape.com)