Germline Genetics of Prostate Cancer: Prevalence of Risk Variants and Clinical Implications for Disease Management

• Type of Material: Article
• Authors: David K. Doan, Emory University; Keith T. Schmidt, National Cancer Institute; Cindy H. Chau, National Cancer Institute; William D. Figg, National Cancer Institute
• Language: English
• Date: 2021-05-01
• Publisher: MDPI AG
• Publication Version: Final Published Version
• Copyright Statement: © 2021 by the authors.
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.3390/cancers13092154
• Title of Journal or Parent Work: Cancers
• Volume: 13
• Issue: 9
• Grant/Funding Information: This research was supported in part by the Intramural Research Program of the Center for Cancer Research, National Cancer Institute (ZIA SC 010453).
• Keywords: prostate cancer; genetics; germline testing
• Research Categories: Biology, Genetics; Health Sciences, Oncology

Abstract

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 increasingly 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 predisposition, 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 (heritable) 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 medicine. 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.