Article
A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer.
The Kaohsiung journal of medical sciences - 1 Feb 2011
Chen Wen-Chau, Lin Shao-Chieh, Lee Jenq-Chang
Abstract excerpt
Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal dominant inherited disease predisposing to the development of colorectal cancers and several other malignancies (endometrium, ovaries, stomach, small bowel, hepatobiliary, and urinary tract). HNPCC is caused by germline mutations in any of the mismatch repair genes. Mutations in MLH1 and MSH2 account for almost 90% of all identified ones. Here, we...
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