title: Association of MUTYH and colorectal cancer.
abstract: Mutations in the MUTYH gene have been reported to be associated with increased risk of developing colorectal cancer. In this study, we confirmed this association using original data on 928 colorectal cancer cases and 845 healthy controls from Scotland. We then conducted a meta-analysis from published data on the association between mutations at MUTYH and colorectal cancer risk. We show for the first time a small but significant mono-allelic effect with a genotype relative risk (GRR) of 1.27 (95% confidence interval (CI): 1.01-1.61), and confirm and give a more precise estimate of the strong bi-allelic effect with an estimated GRR of 117 (95% CI: 74-184). This study underscores the need for large sample sizes in order to identify small gene effects when the disease allele frequency is low.
authors.affiliation: Colon Cancer Genetics Group, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK. albert.tenesa@ed.ac.uk
authors.forename: A
authors.initials: A
authors.lastname: Tenesa
authors.forename: H
authors.initials: H
authors.lastname: Campbell
authors.forename: R
authors.initials: R
authors.lastname: Barnetson
authors.forename: M
authors.initials: M
authors.lastname: Porteous
authors.forename: M
authors.initials: M
authors.lastname: Dunlop
authors.forename: S M
authors.initials: SM
authors.lastname: Farrington
mesh_terms: D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D019992:Databases as Topic; D006801:Humans; D009154:Mutation; D012307:Risk Factors; D012606:Scotland / Q000453:epidemiology
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase