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Genetic diagnosis of familial adenomatous polyposis: detection of APC gene muta...

Familial adenomatous polyposis of the colon (FAP) is a dominant autosomic disease in which virtually 100% of the affected individuals develop colorectal cancer before the age of forty. The gene responsible for this disease (APC gene) is mutated in the germ line of these patients. The genetic diagnosis of FAP was initially done using linkage analysis. Because 95% of the mutations in APC gene result in a stop cod...