Russo, Angela and Catania, Vito Emanuele and Cavallaro, Andrea and Ficili, Bartolomea and Lanteri, Eleonora and Tralongo, Paolo and Cappellani, Alessandro and Randazzo, Corrado and Cammisuli, Fernardo and Madeddu, Roberto Beniamino and Trichilo, Vincenzo and Libra, Massimo and Travali, Salvatore (2014) Molecular analysis of the APC gene in Sicilian patients with familial adenomatous polyposis (F.A.P.). International Journal of Surgery, Vol. 12 (Suppl. 2), S125-S129. ISSN 1743-9191. Article.
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Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome, caused by germline mutations in the adenomatous polyposis coli (APC) suppressor gene. Patients with colorectal polyps are more likely to develop a malignant condition with poor prognosis. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extra-colonic manifestations; an attenuated form of polyposis (AFAP), presenting less than 100 adenomas and later onset, has been reported.
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