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Molecular analysis of the APC gene in Sicilian patients with familial adenomatous polyposis (F.A.P.)

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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DOI: 10.1016/j.ijsu.2014.08.365

Abstract

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.
In this study we have examined five Sicilian families affected by FAP syndrome, in order to provide predictive genetic testing for the affected families, as well as to contribute to mutation catalog enrichment.
We have detected different APC mutations in these five pedigrees, confirming the remarkable heterogeneity of the mutational spectrum in FAP.

Item Type:Article
ID Code:10676
Status:Published
Refereed:Yes
Uncontrolled Keywords:Colorectal cancer, FAP, AFAP, APC gene
Subjects:Area 05 - Scienze biologiche > BIO/17 Istologia
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Biomediche
Publisher:Elsevier
ISSN:1743-9191
Copyright Holders:© 2014 Surgical Associates Ltd. Published by Elsevier Ltd. All rights reserved
Deposited On:22 Jan 2015 13:31

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