Deletions Account for 17% of Pathogenic Germline Alterations in MLH1 and MSH2 in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Families
β Scribed by Grabowski, Monika; Mueller-Koch, Yvonne; Grasbon-Frodl, Eva; Koehler, Udo; Keller, Gisela; Vogelsang, Holger; Dietmaier, Wolfgang; Kopp, Reinhard; Siebers, Ulrike; Schmitt, Wolfgang; Neitzel, Birgit; Gruber, Maria; Doerner, Christa; Kerker, Brigitte; Ruemmele, Petra; Henke, Gabriele; Holinski-Feder, Elke
- Book ID
- 126986221
- Publisher
- Mary Ann Liebert
- Year
- 2005
- Tongue
- English
- Weight
- 173 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1090-6576
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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
## Abstract Hereditary nonpolyposis colorectal cancer (HNPCC) is often caused by a deficiency in DNA mismatch repair. By using conventional methods of mutation analysis, point mutations in the DNA mismatch repair genes __MSH2__ and __MLH1__ have been detected in up to 64% of patients suspected of H