Abstract 80: Contributions of cancer epidemiology consortia to genome-wide association studies of common and rare cancers.

Genome-wide association studies (GWAS) have provided a wealth of information on loci associated with the risk of common and rare diseases. Many cancer epidemiology consortia (CEC) have been established to create the large sample sizes and interdisciplinary expertise necessary to address complex scientific questions in cancer research that single teams cannot. The goal of this study was to evaluate the contributions of CECs to GWAS of common and rare cancers. A consortium was defined as a group of investigators from multiple institutions who have established a governance structure to support cooperative research efforts. The National Human Genome Research Institute's (NHGRI) GWAS Catalog, a manually curated database of more than 1,300 published GWAS, was searched for cancer GWAS. The resulting publications were reviewed to determine the number of groups that contributed to each study and whether one or more of those groups were established CECs. We then evaluated the influence of established CECs contributing to a study on reported sample size, number of associations, odds ratios (OR) and P-values of associations, choice of genotyping platform(s), and the impact factor (IF) of the publishing journal. The impacts of the publications on the field and types of follow-up studies published on reported associations also were evaluated. Analyses were conducted for both common and rare cancers. Established CECs contributed to a significant number of cancer GWAS, with more than 50% of published studies on common cancers and more than 30% of studies on rare cancers having utilized CEC resources. CECs have a record of successful collaborative, multidisciplinary research. This expertise, combined with their large numbers of study participants, robust exposure, family history, and follow-up data, mean that CECs are well positioned to make significant contributions to the understanding of cancer etiology in the post-GWAS era.

Citation Format: Michael R. Burgio, Daniela Seminara. Contributions of cancer epidemiology consortia to genome-wide association studies of common and rare cancers. [abstract]. In: Proceedings of the AACR Special Conference on Post-GWAS Horizons in Molecular Epidemiology: Digging Deeper into the Environment; 2012 Nov 11-14; Hollywood, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2012;21(11 Suppl):Abstract nr 80.