Article
Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations.
Scandinavian journal of gastroenterology. Supplement - 1 Jan 2004
Niessen R C, Sijmons R H, Berends M J W, Ou J, Hofstra R M W, Kleibeuker J H
Abstract excerpt
Hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is an autosomal dominantly inherited disorder that is characterized by susceptibility to colorectal cancer and extracolonic malignancies, in particular endometrial cancer. HNPCC is caused by pathogenic mutations in the mismatch repair (MMR) genes, which play an important role in maintaining genomic stability during DNA...
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