Journal
KAOHSIUNG JOURNAL OF MEDICAL SCIENCES
Volume 27, Issue 2, Pages 68-71Publisher
WILEY
DOI: 10.1016/j.kjms.2010.05.002
Keywords
HNPCC; Mismatch repair; MSH2 gene; Mutation
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Funding
- National Cheng Kung University Hospital, Taiwan, Republic of China [NCKUH 96-075]
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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 report a Taiwanese family with HNPCC and mutation analysis revealed a novel nonsense mutation (S611X) in MSH2 gene. Copyright (C) 2011, Elsevier Taiwan LLC. All rights reserved.
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