A novel nonsense mutation of MSH2 gene in a Taiwanese family with hereditary nonpolyposis colorectal cancer

作者：Chen Wen Chau; Lin Shao Chieh; Lee Jenq Chang^*

来源：The Kaohsiung Journal of Medical Sciences, 2011, 27(2): 68-71.

DOI：10.1016/j.kjms.2010.05.002

• HNPCC
• Mismatch repair
• MSH2 gene
• Mutation

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.

• 出版日期2011-2