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KMID : 0624620110440050317
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BMB Reports
2011 Volume.44 No. 5 p.317 ~ p.322
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Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China
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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
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Abstract
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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.
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KEYWORD
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HNPCC, MLH1, MSH2, Mutations
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