title: Molecular analysis of the APC gene in Sicilian patients with familial adenomatous polyposis (F.A.P.).
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.
authors.affiliation: Dep. of Biomedical Sciences, University of Catania, Italy.
authors.forename: Angela
authors.initials: A
authors.lastname: Russo
authors.affiliation: Dep. of Surgical Science, Organ Transplantation and Advanced Technology, University of Catania, Italy. Electronic address: vito.catania@policlinico.unict.it.
authors.forename: Vito Emanuele
authors.initials: VE
authors.lastname: Catania
authors.affiliation: Dep. of Surgery, University of Catania, Italy. Electronic address: andreacavallaro@tiscali.it.
authors.forename: Andrea
authors.initials: A
authors.lastname: Cavallaro
authors.affiliation: Dep. of Biomedical Sciences, University of Catania, Italy.
authors.forename: Bartolomea
authors.initials: B
authors.lastname: Ficili
authors.affiliation: Hospital Umberto I, Oncology Department, Siracusa, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Lanteri
authors.affiliation: Hospital Umberto I, Oncology Department, Siracusa, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Tralongo
authors.affiliation: Dep. of Surgery, University of Catania, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Cappellani
authors.affiliation: Dep. of Surgical Science, Organ Transplantation and Advanced Technology, University of Catania, Italy. Electronic address: corrado.randazzo@alice.it.
authors.forename: Corrado
authors.initials: C
authors.lastname: Randazzo
authors.affiliation: Dep. of Surgical Science, Organ Transplantation and Advanced Technology, University of Catania, Italy. Electronic address: cammisul@unict.it.
authors.forename: Fernando
authors.initials: F
authors.lastname: Cammisuli
authors.affiliation: Dep. of Biomedical Sciences, University of Sassari, Italy. Electronic address: rmadeddu@uniss.it.
authors.forename: Roberto
authors.initials: R
authors.lastname: Madeddu
authors.affiliation: Department of Clinical and Experimental Medicine, Policlinico "G. Martino", University of Messina, Italy. Electronic address: vtrichilo@unime.it.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Trichilo
authors.affiliation: Dep. of Biomedical Sciences, University of Catania, Italy. Electronic address: mlibra@unict.it.
authors.forename: Massimo
authors.initials: M
authors.lastname: Libra
authors.affiliation: Dep. of Biomedical Sciences, University of Catania, Italy. Electronic address: stravali@unict.it.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Travali
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000328:Adult; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012802:Sicily; D044465:White People / Q000235:genetics*
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein
keywords: AFAP; APC gene; Colorectal cancer; FAP