一个台湾家族性非息肉病性结直肠癌中 MSH2 基因的新型无义突变。

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

机构信息

Department of Emergency Medicine, National Cheng Kung University Hospital, Tainan, Taiwan.

出版信息

Kaohsiung J Med Sci. 2011 Feb;27(2):68-71. doi: 10.1016/j.kjms.2010.05.002. Epub 2011 Feb 4.

DOI:10.1016/j.kjms.2010.05.002

Abstract

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.

摘要

遗传性非息肉病性结直肠癌（HNPCC）是一种常染色体显性遗传疾病，易发生结直肠癌和其他几种恶性肿瘤（子宫内膜、卵巢、胃、小肠、肝胆和泌尿道）。HNPCC 是由错配修复基因中的种系突变引起的。MLH1 和 MSH2 的突变几乎占所有已确定突变的 90%。在这里，我们报告了一个台湾的 HNPCC 家族，突变分析显示 MSH2 基因中存在一个新的无义突变（S611X）。

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