Abstract
Genome-wide association studies (GWAS) have transformed the discovery of common susceptibility alleles for a wide spectrum of cancers. GWAS have been a highly successful approach for discovering common susceptibility alleles. Already, over 220 regions have been conclusively established (i.e., achieving genome-wide significance) in two-dozen cancers1. GWAS have uncovered new clues to biological insights as a consequence of collaboration between epidemiologists, statisticians, and geneticists. Since GWAS can be effectively scaled to accelerate discovery, the major challenge ahead is to determine how to establish the critical connection between the genetic markers and carcinogenic processes that underlie complex phenotypes, such as cancer. The rapid pace of discovery using the GWAS approach has not been matched by research to interpret and understand the functional significance of different alleles that are correlated with cancer phenotypes. The gap between the number of new independent markers and a biological understanding of the loci continues to widen, at an accelerated pace. The success of GWAS as a tool for discovery has raised a new series of questions. It is now possible to begin to estimate the underlying genetic architecture of genetic susceptibility alleles for specific cancers and explore both their main effect and interaction with either other genetic variants or environmental exposures. There are a few examples of GWAS findings that have lead to new insights into processes that could be targets for either prevention or treatment. Based on sound scientific insights, new approaches will begin to emerge and contribute to novel strategies for prevention and therapy.
Citation Format: Stephen J. Chanock. The promise of GWAS studies to assess cancer prevention. [abstract]. In: Proceedings of the Eleventh Annual AACR International Conference on Frontiers in Cancer Prevention Research; 2012 Oct 16-19; Anaheim, CA. Philadelphia (PA): AACR; Cancer Prev Res 2012;5(11 Suppl):Abstract nr PL04-01.
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