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
Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer
β Scribed by Seoyoung Yoon; Tae Sung Park; Nam Kyu Kim; Kyung-A. Lee; Juwon Kim; Jaewoo Song; Bo-Young Kim; Jong Rak Choi
- Book ID
- 113513436
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 236 KB
- Volume
- 188
- Category
- Article
- ISSN
- 0165-4608
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Hereditary non-polyposis colorectal cancer (HNPCC), the most common hereditary colon cancer syndrome, is a dominant disorder caused by germline defects in mismatch repair (MMR) genes. Identification of MMR gene mutations can have direct clinical implications in counseling and management of HNPCC fam
## 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