title: The role of MYH gene in genetic predisposition to colorectal cancer: another piece of the puzzle.
abstract: Biallelic germline mutations in the MYH gene cause MYH-Associated Polyposis but patients with a single mutation possibly have an increased colorectal cancer (CRC) risk. Using DNA from consecutive CRC patients we carried out a case-control study, with the aim to contribute data on the Italian population. Genotyping of four MYH mutations found two biallelic and two monoallelic carriers among 439 cases, and only one heterozygous individual among 247 age-matched controls. The frequencies of the mutant alleles were 0.68% (6/878) and 0.20% (1/494), respectively. These differences were not statistically significant. Results on the monoallelic carriers were combined with those from 11 studies on other populations, and the risk of developing a CRC was estimated with an OR=1.11 (95% CI=0.90; 1.36), yet not reaching a significant evidence of increased CRC risk.
authors.affiliation: Oncologia Sperimentale 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Avezzù
authors.forename: Marco
authors.initials: M
authors.lastname: Agostini
authors.forename: Salvatore
authors.initials: S
authors.lastname: Pucciarelli
authors.forename: Mauro
authors.initials: M
authors.lastname: Lise
authors.forename: Emanuele Damiano
authors.initials: ED
authors.lastname: Urso
authors.forename: Isabella
authors.initials: I
authors.lastname: Mammi
authors.forename: Isacco
authors.initials: I
authors.lastname: Maretto
authors.forename: Maria Vittoria
authors.initials: MV
authors.lastname: Enzo
authors.forename: Chiara
authors.initials: C
authors.lastname: Pastrello
authors.forename: Mario
authors.initials: M
authors.lastname: Lise
authors.forename: Donato
authors.initials: D
authors.lastname: Nitti
authors.forename: Alessandra
authors.initials: A
authors.lastname: Viel
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase