Article
Clinical and molecular diagnosis of hereditary non-polyposis colorectal cancer: problems and pitfalls in an extended pedigree.
Italian journal of gastroenterology and hepatology - 1 Jan 2000
Ponz de Leon M, Benatti P, Percesepe A, Rossi G, Viel A, Santarosa M, Pedroni M, Roncucci L
Abstract excerpt
Hereditary non-polyposis colorectal cancer (or Lynch syndrome) is an autosomal dominant disease in which early onset colorectal carcinomas aggregate in families together with tumours of other organs. The genetic basis of the syndrome has been clarified with the identification of mutations in several DNA mismatch repair genes (MSH2, MLH1, PMS1, PMS2 and MSH6). We describe the clinical features and molecular...
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