Article
The Italian external quality control program for familial adenomatous polyposis of the colon: five years of experience.
Genetic testing and molecular biomarkers - 1 Apr 2010
Censi Federica, Falbo Vincenzo, Floridia Giovanna, Salvatore Marco, Tosto Fabrizio, De Rosa Marina, Resta Nicoletta, Izzo Paola, Guanti Ginevra, Taruscio Domenica
Abstract excerpt
Familial adenomatous polyposis is a rare autosomal dominant inherited disease (incidence, 1/8000). More than 90% of families affected by familial adenomatous polyposis have a mutation in the tumor suppressor gene adenomatous polyposis coli (APC). Mutations in this gene are characterized by 100% penetrance, although there is a variation in phenotypic expression of the disease. According to a 2004 survey of the...
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