, Volume 1, Issue 3, pp 130-137
Date: 03 Jul 2014

The Impact of GWAS Findings on Cancer Etiology and Prevention


Genome-wide association studies (GWAS) of common genetic variation have contributed immensely to our understanding of inherited susceptibility to cancer. To date, over 400 susceptibility loci have been identified across all cancers. These loci implicate novel as well as established genes and biological pathways, and have reinforced the significance and functionality of non-protein-coding DNA sequence. While the genetic associations for each variant are deemed modest, for some cancers, risk stratification based on aggregate effects may be of value for targeted screening and prevention strategies. Several questions still remain to be answered in order to fully assess the significance of these findings, including a better understanding of the source of the missing heritability. Here we discuss, from studies of common cancers, the impact of GWAS findings on illuminating disease etiology, the potential future utility of polygenic models for screening and prevention, and the future of association studies in the post-genomic era.