Genome-wide association studies of cancer. Review uri icon



  • Knowledge of the inherited risk for cancer is an important component of preventive oncology. In addition to well-established syndromes of cancer predisposition, much remains to be discovered about the genetic variation underlying susceptibility to common malignancies. Increased knowledge about the human genome and advances in genotyping technology have made possible genome-wide association studies (GWAS) of human diseases. These studies have identified many important regions of genetic variation associated with an increased risk for human traits and diseases including cancer. Understanding the principles, major findings, and limitations of GWAS is becoming increasingly important for oncologists as dissemination of genomic risk tests directly to consumers is already occurring through commercial companies. GWAS have contributed to our understanding of the genetic basis of cancer and will shed light on biologic pathways and possible new strategies for targeted prevention. To date, however, the clinical utility of GWAS-derived risk markers remains limited.

publication date

  • June 28, 2010



  • Genetic Variation
  • Genome-Wide Association Study
  • Neoplasms


PubMed Central ID

  • PMC2953976

Scopus Document Identifier

  • 77956309446

Digital Object Identifier (DOI)

  • 10.1200/JCO.2009.25.7816

PubMed ID

  • 20585100

Additional Document Info


  • 28


  • 27