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MSI-H status raises the possibility of Lynch syndrome, but MSI-H can also occur in patients without Lynch Syndrome and confirmation of Lynch Syndrome requires testing germline DNA. Lynch syndrome is associated with MSI and increases the risk for colon, endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and ...
DNA mismatch repair (MMR) is a system for recognizing and repairing erroneous insertion, deletion, and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairing some forms of DNA damage.
Under the name constitutional mismatch repair-deficiency (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. [2] Monoallelic mutations of these genes are observed in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, while biallelic mutations are observed in CMMR-D. [3] People expressing the HNPCC (which itself is considered autosomal dominant) trait are ...
DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on chromosome 2.MSH2 is a tumor suppressor gene and more specifically a caretaker gene that codes for a DNA mismatch repair (MMR) protein, MSH2, which forms a heterodimer with MSH6 to make the human MutSα mismatch repair complex.
MMR is most useful at detecting tuberculosis infection in the asymptomatic phase, and it should be combined with tuberculin skin tests and clinical questioning in order to be more effective. The sharp increase in tuberculosis in all countries with large exposure to HIV is probably mandating a return of MMR as a screening tool focusing on high ...
Familial adenomatous polyposis is a cancer syndrome in which there are hundreds to thousands of benign adenomas in the colon.. A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the ...
This is a list of diseases known (or declared) to have been eliminated from the United States, either permanently or at one time.("Elimination" is the preferred term for "regional eradication" of a disease; the term "eradication" is reserved for the reduction of an infectious disease's global prevalence to zero.)
Promotion of a link between autism and vaccines, in which the vaccines are accused of causing autism-spectrum conditions, triggering them, or aggravating them, has been characterized as pseudoscience. [375] Many epidemiological studies have reported no association between either the MMR vaccine and autism, or thimerosal-containing vaccines and ...