title: Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas.
abstract: Loss of APC is an initial, rate-limiting event in inherited and sporadic colorectal tumorigenesis. Rare germline APC mutations have been identified in patients with multiple colorectal adenomas. Recently, the E1317Q APC variant has been associated with a predisposition to the development of multiple colorectal adenomas. In this study, the prevalence of the E1317Q variant was examined in 182 patients with single or multiple colorectal adenomas, and in 235 controls. In all, E1317Q was identified in two of 182 patients with adenomatous polyps (1.1%) and in two of 235 controls (0.8%) (p = 0.59). The risk of harboring adenoma(s) among subjects bearing the E1317Q variant was 1.29 (95% CI 0.09-18.0). No difference in the prevalence of E1317Q between cases with single (2.0%) or multiple colorectal adenomas (0.7%) and controls (0.8%) was found. None of the subjects with a family history of colorectal cancer carried the E1317Q variant. In conclusion, our results confirm that only a very small fraction of colorectal adenomas may be associated with the presence of E1317Q.
authors.affiliation: National Cancer Institute-Genova, 16132 Genova, Italy.
authors.forename: V
authors.initials: V
authors.lastname: Gismondi
authors.forename: L
authors.initials: L
authors.lastname: Bonelli
authors.forename: S
authors.initials: S
authors.lastname: Sciallero
authors.forename: P
authors.initials: P
authors.lastname: Margiocco
authors.forename: A
authors.initials: A
authors.lastname: Viel
authors.forename: P
authors.initials: P
authors.lastname: Radice
authors.forename: P
authors.initials: P
authors.lastname: Mondini
authors.forename: P
authors.initials: P
authors.lastname: Sala
authors.forename: M P
authors.initials: MP
authors.lastname: Montera
authors.forename: C
authors.initials: C
authors.lastname: Mareni
authors.forename: M
authors.initials: M
authors.lastname: Quaia
authors.forename: M
authors.initials: M
authors.lastname: Fornasarig
authors.forename: M
authors.initials: M
authors.lastname: Gentile
authors.forename: G
authors.initials: G
authors.lastname: Pietro
authors.forename: P
authors.initials: P
authors.lastname: Rossini
authors.forename: A
authors.initials: A
authors.lastname: Arrigoni
authors.forename: G M
authors.initials: GM
authors.lastname: Meucci
authors.forename: P
authors.initials: P
authors.lastname: Bruzzi
authors.forename: L
authors.initials: L
authors.lastname: Varesco
mesh_terms: D000236:Adenoma / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense
chemical_list: D025601:Adenomatous Polyposis Coli Protein