title: Nine novel APC mutations in Italian FAP patients.
abstract: Familial adenomatous polyposis (FAP) is a common hereditary syndrome characterized by early development of colorectal cancer consequent to extensive adenomatous polyps of the colon. In addition to the colonic manifestations the syndrome presents several extracolonic features including polyps of the upper gastrointestinal tract, congenital hypertrophy of the retinal pigment, jaw cysts, osteomata and desmoid tumors. In this study the entire APC coding region has been analysed for mutation in a panel of one Turcot and 33 unrelated Italian FAP patients using SSCP analysis, PTT and DNA sequencing. We detected APC mutations in 23 of them and identified nine which, to our knowledge were not previously reported. All of these novel mutations are in exon 15, including two nonsense mutations, 6 deletions or insertions leading to premature termination of the protein and one missense mutation (7697G>A). This last mutation occurs in the EB1-binding domain of the APC protein and segregates in four relatives of the patient with three of them presenting 2-3 adenomatous polyps.
authors.affiliation: Sez. Genetica Medica DIMIMP, Policlinico Università di Bari, Italy.
authors.forename: N
authors.initials: N
authors.lastname: Resta
authors.forename: A
authors.initials: A
authors.lastname: Stella
authors.forename: F
authors.initials: F
authors.lastname: Susca
authors.forename: M
authors.initials: M
authors.lastname: Montera
authors.forename: M
authors.initials: M
authors.lastname: Gentile
authors.forename: F
authors.initials: F
authors.lastname: Cariola
authors.forename: F
authors.initials: F
authors.lastname: Prete
authors.forename: R
authors.initials: R
authors.lastname: Tenconi
authors.forename: M G
authors.initials: MG
authors.lastname: Tibiletti
authors.forename: G
authors.initials: G
authors.lastname: Logrieco
authors.forename: T
authors.initials: T
authors.lastname: Mattina
authors.forename: G
authors.initials: G
authors.lastname: Andriulli
authors.forename: M L
authors.initials: ML
authors.lastname: Caruso
authors.forename: P
authors.initials: P
authors.lastname: Fiorente
authors.forename: S
authors.initials: S
authors.lastname: Russo
authors.forename: O
authors.initials: O
authors.lastname: Caputi-Jambrenghi
authors.forename: C
authors.initials: C
authors.lastname: Mareni
authors.forename: G
authors.initials: G
authors.lastname: Guanti
mesh_terms: D000236:Adenoma / Q000235:genetics / Q000473:pathology; D011125:Adenomatous Polyposis Coli / Q000235:genetics* / Q000473:pathology; D025601:Adenomatous Polyposis Coli Protein; D000328:Adult; D015179:Colorectal Neoplasms / Q000235:genetics / Q000473:pathology; D003598:Cytoskeletal Proteins / Q000737:chemistry / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D017491:Genes, APC / Q000235:genetics*; D005820:Genetic Testing; D018095:Germ-Line Mutation / Q000235:genetics; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D025601:Adenomatous Polyposis Coli Protein; D003598:Cytoskeletal Proteins