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

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 identif...

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Bibliographic Details
Published in:BMB reports 2011-05, Vol.44 (5), p.317-322
Main Authors: Wei, Wenqian, Liu, Fangqi, Liu, Lei, Li, Zuofeng, Zhang, Xiaoyan, Jiang, Fan, Shi, Qu, Zhou, Xiaoyan, Sheng, Weiqi, Cai, Sanjun, Li, Xuan, Xu, Ye, Nan, Peng
Format: Article
Language:Korean
Subjects:
HNPCC
MLH1
MSH2
Mutations
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Summary: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. [BMB reports 2011; 44(5): 317-322]
ISSN:1976-6696
1976-670X