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LYNCH SYNDROME I
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Lynch syndrome I, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is caused by heterozygous mutations in mismatch repair genes (MMR). HNPCC1 refers to the disorder caused by mutations in the MSH2 gene. HNPCC is a genetically heterogeneous disease. In addition to mutations in the MSH2 gene, mutations in the MLH1, PMS1, PMS2, MSH6, TFGBR2, and MLH3 genes have been identified in HNPCC. Since defects in the MSH2 gene may account for as many as 60% of HNPCC cases, and defects in the MLH1 gene may play a role in up to 30%, defects in these 2 genes likely account for the vast majority of HNPCC cases.
Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see 608089), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). |
DNA repair proteins related with LYNCH SYNDROME I (#120435 ) disease:
- MLH3 (Homo sapiens)
- MLH1 (Homo sapiens)
- MSH2 (Homo sapiens)
- MSH6 (Homo sapiens)
- PMS1 (Homo sapiens)
- PMS2 (Homo sapiens)
Following keywords are related to LYNCH SYNDROME I:
Last modification of this entry: Oct. 11, 2010.
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