title: Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.
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.
authors: Ministry of Education Key Laboratory for Biodiversity Science and Ecological Engineering, School of Life Sciences, Fudan University, Shanghai, China. lixuan@sippe.ac.cn
authors: Wenqian
authors: W
authors: Wei
authors: Fangqi
authors: F
authors: Liu
authors: Lei
authors: L
authors: Liu
authors: Zuofeng
authors: Z
authors: Li
authors: Xiaoyan
authors: X
authors: Zhang
authors: Fan
authors: F
authors: Jiang
authors: Qu
authors: Q
authors: Shi
authors: Xiaoyan
authors: X
authors: Zhou
authors: Weiqi
authors: W
authors: Sheng
authors: Sanjun
authors: S
authors: Cai
authors: Xuan
authors: X
authors: Li
authors: Ye
authors: Y
authors: Xu
authors: Peng
authors: P
authors: Nan