Article
Deficient DNA mismatch repair: a common etiologic factor for colon cancer.
Human molecular genetics - 1 Apr 2001
Peltomäki P
Abstract excerpt
Hereditary non-polyposis colon cancer (HNPCC), the most common form of hereditary colon cancer, is a syndrome of deficient DNA mismatch repair (MMR). Five, possibly six, human MMR genes have been identified that, when mutated in the germline, cause susceptibility to this syndrome. To date, more than 300 different predisposing mutations are known, mainly affecting the MMR genes MLH1 ( approximately 50%), MSH2 (...
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