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

Wenqian Wei, Fangqi Liu, Lei Liu, Zuofeng Li, Xiaoyan Zhang, Fan Jiang, Qu Shi, Xiaoyan Zhou, Weiqi Sheng, Sanjun Cai, Xuan Li, Ye Xu (+1 others)
2011 BMB Reports  
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
more » ... 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. [BMB reports 2011; 44(5): 317-322]
doi:10.5483/bmbrep.2011.44.5.317 pmid:21615986 fatcat:7odbg5gsbfe6pcazd5644nxyfu