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

编号：

5f9077a5-07d4-4115-82d0-080adc49f0b0
作者：

Wei, Wenqian^[4] Liu, Fangqi^[3] Liu, Lei^[1,4] Li, Zuofeng^[1] Zhang, Xiaoyan^[2] Jiang, Fan^[4] Shi, Qu^[4] Zhou, Xiaoyan^[3] Sheng, Weiqi^[3] Cai, Sanjun^[3] Li, Xuan^[1] Xu, Ye^[3] Nan, Peng^[4]
语种：

English
期刊：

BMB REPORTS ISSN：1976-6696 2011 年 44 卷 5 期 (317 - 322) ; MAY 31
收录：
关键词：

HNPCC MLH1 MSH2 Mutations
摘要：

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]
推荐引用方式
GB/T 7714：

Wei Wenqian,Liu Fangqi,Liu Lei, et al. Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China [J].BMB REPORTS,2011,44(5):317-322.
APA：

Wei Wenqian,Liu Fangqi,Liu Lei,Li Zuofeng,&Nan Peng.(2011).Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China .BMB REPORTS,44(5):317-322.
MLA：

Wei Wenqian, et al. "Distinct mutations in MLH1 and MSH2 genes in Hereditary Non-polyposis Colorectal Cancer (HNPCC) families from China" .BMB REPORTS 44,5(2011):317-322.

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