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

研究成果: Article同行評審

1 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)68-71
頁數4
期刊Kaohsiung Journal of Medical Sciences
27
發行號2
DOIs
出版狀態Published - 2011 二月

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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