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

Angela Russo; Vito Emanuele Catania; Andrea Cavallaro; Bartolomea Ficili; Eleonora Lanteri; Paolo Tralongo; Alessandro Cappellani; Corrado Randazzo; Fernando Cammisuli; Roberto Madeddu; Vincenzo Trichilo; Massimo Libra; Salvatore Travali

doi:10.1016/j.ijsu.2014.08.365

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

Int J Surg. 2014:12 Suppl 2:S125-S129. doi: 10.1016/j.ijsu.2014.08.365. Epub 2014 Aug 23.

Affiliations

¹ Dep. of Biomedical Sciences, University of Catania, Italy.
² Dep. of Surgical Science, Organ Transplantation and Advanced Technology, University of Catania, Italy. Electronic address: vito.catania@policlinico.unict.it.
³ Dep. of Surgery, University of Catania, Italy. Electronic address: andreacavallaro@tiscali.it.
⁴ Hospital Umberto I, Oncology Department, Siracusa, Italy.
⁵ Dep. of Surgery, University of Catania, Italy.
⁶ Dep. of Surgical Science, Organ Transplantation and Advanced Technology, University of Catania, Italy. Electronic address: corrado.randazzo@alice.it.
⁷ Dep. of Surgical Science, Organ Transplantation and Advanced Technology, University of Catania, Italy. Electronic address: cammisul@unict.it.
⁸ Dep. of Biomedical Sciences, University of Sassari, Italy. Electronic address: rmadeddu@uniss.it.
⁹ Department of Clinical and Experimental Medicine, Policlinico "G. Martino", University of Messina, Italy. Electronic address: vtrichilo@unime.it.
¹⁰ Dep. of Biomedical Sciences, University of Catania, Italy. Electronic address: mlibra@unict.it.
¹¹ Dep. of Biomedical Sciences, University of Catania, Italy. Electronic address: stravali@unict.it.

PMID: 25183641
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.

Keywords: AFAP; APC gene; Colorectal cancer; FAP.

MeSH terms

Adenocarcinoma / genetics*
Adenomatous Polyposis Coli / genetics*
Adenomatous Polyposis Coli Protein / genetics*
Adult
Female
Germ-Line Mutation
Humans
Male
Middle Aged
Pedigree
Sicily
White People / genetics*

Substances

APC protein, human
Adenomatous Polyposis Coli Protein