Germline genetics of prostate cancer: Prevalence of risk variants and clinical implications for disease management

David K. Doan, Keith T. Schmidt, Cindy H. Chau, William D. Figg*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

11 Scopus citations


Prostate cancer has entered into the era of precision medicine with the recent approvals of targeted therapeutics (olaparib and rucaparib). The presence of germline mutations has important hereditary cancer implications for patients with prostate cancer, and germline testing is in-creasingly important in cancer screening, risk assessment, and the overall treatment and management of the disease. In this review, we discuss germline variants associated with inherited predis-position, prostate cancer risk and outcomes. We review recommendations for germline testing, available testing platforms, genetic counseling as well as discuss the therapeutic implications of germline variants relevant to prostate cancer treatments. Understanding the role of germline (her-itable) mutations that affect prostate cancer biology and risk as well as the subsequent effect of these alterations on potential therapies is critical as the treatment paradigm shifts towards precision med-icine. Furthermore, enhancing patient education tactics and healthcare system infrastructure is essential for the utilization of relevant predictive biomarkers and the improvement of clinical outcomes of patients with prostate cancer or at high risk of developing the disease.

Original languageEnglish
Article number2154
Issue number9
StatePublished - 1 May 2021
Externally publishedYes


  • Genetics
  • Germline testing
  • Prostate cancer


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