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http://dx.doi.org/10.5483/BMBRep.2011.44.5.317

Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China  

Wei, Wenqian (Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University)
Liu, Fangqi (Colorectal Surgery, Shanghai Cancer Hospital of Fudan University)
Liu, Lei (Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University)
Li, Zuofeng (Shanghai Center for Bioinformation Technology)
Zhang, Xiaoyan (School of Life Science and Technology, Tongji University)
Jiang, Fan (Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University)
Shi, Qu (Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University)
Zhou, Xiaoyan (Colorectal Surgery, Shanghai Cancer Hospital of Fudan University)
Sheng, Weiqi (Colorectal Surgery, Shanghai Cancer Hospital of Fudan University)
Cai, Sanjun (Colorectal Surgery, Shanghai Cancer Hospital of Fudan University)
Li, Xuan (Shanghai Center for Bioinformation Technology)
Xu, Ye (Colorectal Surgery, Shanghai Cancer Hospital of Fudan University)
Nan, Peng (Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University)
Publication Information
BMB Reports / v.44, no.5, 2011 , pp. 317-322 More about this Journal
Abstract
Hereditary non-polyposis Colorectal Cancer (HNPCC) is an autosomal dominant inheritance syndrome. HNPCC is the most common hereditary variant of colorectal cancer (CRC), which accounts for 2-5% CRCs, mainly due to hMLH1 and hMSH2 mutations that impair DNA repair functions. Our study aimed to identify the patterns of hMSH2 and hMLH1 mutations in Chinese HNPCC patients. Ninety-eight unrelated families from China meeting Amsterdam or Bethesda criteria were included in our study. Germline mutations in MLH1 and MSH2 genes, located in the exons and the splice-site junctions, were screened in the 98 probands by direct sequencing. Eleven mutations were found in ten patients (11%), with six in MLH1 (54.5%) and five in MSH2 (45.5%) genes. One patient had mutations in both MLH1 and MSH2 genes. Three novel mutations in MLH1 gene (c.157_160delGAGG, c.2157dupT and c.-64G>T) were found for the first time, and one suspected hotspot in MSH2 (c.1168C>T) was revealed.
Keywords
HNPCC; MLH1; MSH2; Mutations;
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