Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer
β Scribed by Chan, Tsun Leung; Yuen, Siu Tsan; Kong, Chi Kwan; Chan, Yee Wai; Chan, Annie SY; Ng, Wai Fu; Tsui, Wai Yin; Lo, Michelle WS; Tam, Wing Yip; Li, Vivian SW
- Book ID
- 109919420
- Publisher
- Nature Publishing Group
- Year
- 2006
- Tongue
- English
- Weight
- 658 KB
- Volume
- 38
- Category
- Article
- ISSN
- 1061-4036
- DOI
- 10.1038/ng1866
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## Abstract HNPCC is an autosomal dominantly inherited cancerβsusceptibility syndrome that confers an increased risk for colorectal cancer and endometrial cancer at a young age. It also entails an increased risk of a variety of other tumors, such as ovarian, gastric, uroepithelial and biliary tract
Mismatch repair genes MSH2 and MLH1 are considered to be the two major genes that are responsible for hereditary nonpolyposis colorectal cancer (HNPCC). Germline heterozygous inactivating mutations of MSH2 and MLH1 have been identified previously in a substantial fraction of individuals who are pred