Article
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Gastroenterology - 1 Aug 2005
Raevaara Tiina E, Korhonen Mari K, Lohi Hannes, Hampel Heather, Lynch Elly, Lönnqvist Karin E, Holinski-Feder Elke, Sutter Christian, McKinnon Wendy, Duraisamy Sekhar, Gerdes Anne-Marie, Peltomäki Päivi, Kohonen-Ccorish Maija, Mangold Elisabeth, Macrae Finlay, Greenblatt Marc, de la Chapelle Albert, Nyström Minna
Abstract excerpt
BACKGROUND & AIMS: Germline mutations in mismatch repair genes are associated with hereditary nonpolyposis colorectal cancer. A significant proportion of mutations are nontruncating and associated with a variability of clinical phenotype and microsatellite instability and with occasional presence of residual protein in tumor tissue that suggests impaired functional activity but not total lack of mismatch repair....
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