Ontology highlight
ABSTRACT:
SUBMITTER: Farrington SM
PROVIDER: S-EPMC1226182 | biostudies-literature | 2005 Jul
REPOSITORIES: biostudies-literature
Farrington Susan M SM Tenesa Albert A Barnetson Rebecca R Wiltshire Alice A Prendergast James J Porteous Mary M Campbell Harry H Dunlop Malcolm G MG
American journal of human genetics 20050503 1
DNA repair is a key process in the maintenance of genome integrity. Here, we present a large, systematically collected population-based association study (2,239 cases; 1,845 controls) that explores the contribution to colorectal cancer incidence of inherited defects in base-excision repair (BER) genes. We show that biallelic MUTYH defects impart a 93-fold (95% CI 42-213) excess risk of colorectal cancer, which accounts for 0.8% of cases aged <55 years and 0.54% of the entire cohort. Penetrance f ...[more]