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Hereditary nonpolyposis colorectal cancer (HNPCC) is a hereditary predisposition to colon cancer.. HNPCC includes (and was once synonymous with) [1] Lynch syndrome, an autosomal dominant genetic condition that is associated with a high risk of colon cancer, endometrial cancer (second most common), ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin. [2]
Colorectal carcinoma (CRC) diagnosed in a patient who is less than 50 years old; Presence of synchronous (at the same time) or metachronous (at another time i.e.- a re-occurrence of) CRC or other Lynch syndrome-associated tumors, regardless of age; CRC with high microsatellite instability histology diagnosed in a patient less than 60 years old;
Muir–Torre syndrome is a rare hereditary, autosomal dominant cancer syndrome [1]: 663 that is thought to be a subtype of HNPCC (Lynch syndrome). Individuals are prone to develop cancers of the colon, genitourinary tract, and skin lesions, such as keratoacanthomas and sebaceous tumors .
Lynch syndrome is associated with MSI and increases the risk for colon, endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin cancers. [ 3 ] One study conducted over 120 Lynch syndrome patients attributing Crohn's like reaction (CLR) associated with MSI to "tumor specific neopeptides generated during ...
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 ...
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MUTYH-associated polyposis (also known as MYH-associated polyposis) is an autosomal recessive polyposis syndrome. [1] The disorder is caused by mutations in both alleles (genetic copies) of the DNA repair gene, MUTYH. The MUTYH gene encodes a base excision repair protein, which corrects oxidative damage to DNA.
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