A Review of Prostate Cancer Genome-Wide Association Studies (GWAS)

Cancer Epidemiol Biomarkers Prev. 2018 Aug;27(8):845-857. doi: 10.1158/1055-9965.EPI-16-1046. Epub 2018 Jan 18.


Prostate cancer is the most common cancer in men in Europe and the United States. The genetic heritability of prostate cancer is contributed to by both rarely occurring genetic variants with higher penetrance and moderate to commonly occurring variants conferring lower risks. The number of identified variants belonging to the latter category has increased dramatically in the last 10 years with the development of the genome-wide association study (GWAS) and the collaboration of international consortia that have led to the sharing of large-scale genotyping data. Over 40 prostate cancer GWAS have been reported, with approximately 170 common variants now identified. Clinical utility of these variants could include strategies for population-based risk stratification to target prostate cancer screening to men with an increased genetic risk of disease development, while for those who develop prostate cancer, identifying genetic variants could allow treatment to be tailored based on a genetic profile in the early disease setting. Functional studies of identified variants are needed to fully understand underlying mechanisms of disease and identify novel targets for treatment. This review will outline the GWAS carried out in prostate cancer and the common variants identified so far, and how these may be utilized clinically in the screening for and management of prostate cancer. Cancer Epidemiol Biomarkers Prev; 27(8); 845-57. ©2018 AACR.

Publication types

  • Review

MeSH terms

  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study*
  • Humans
  • Male
  • Neoplasm Proteins / genetics*
  • Polymorphism, Single Nucleotide*
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology*


  • Neoplasm Proteins