Genome-wide association studies of cancer: current insights and future perspectives

Nat Rev Cancer. 2017 Nov;17(11):692-704. doi: 10.1038/nrc.2017.82. Epub 2017 Oct 13.

Abstract

Genome-wide association studies (GWAS) provide an agnostic approach for investigating the genetic basis of complex diseases. In oncology, GWAS of nearly all common malignancies have been performed, and over 450 genetic variants associated with increased risks have been identified. As well as revealing novel pathways important in carcinogenesis, these studies have shown that common genetic variation contributes substantially to the heritable risk of many common cancers. The clinical application of GWAS is starting to provide opportunities for drug discovery and repositioning as well as for cancer prevention. However, deciphering the functional and biological basis of associations is challenging and is in part a barrier to fully unlocking the potential of GWAS.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antineoplastic Agents / therapeutic use*
  • Genome-Wide Association Study*
  • Humans
  • Neoplasms / diagnosis
  • Neoplasms / drug therapy
  • Neoplasms / genetics*

Substances

  • Antineoplastic Agents