Doan David K, Schmidt Keith T, Chau Cindy H, Figg William D
Emory University Hospital, Atlanta, GA 30322, USA.
Clinical Pharmacology Program, Office of the Clinical Director, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA.
Cancers (Basel). 2021 Apr 29;13(9):2154. doi: 10.3390/cancers13092154.
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.
随着近期靶向治疗药物（奥拉帕利和卢卡帕利）的获批，前列腺癌已进入精准医学时代。胚系突变的存在对前列腺癌患者具有重要的遗传性癌症意义，在癌症筛查、风险评估以及该疾病的整体治疗和管理中，胚系检测变得越来越重要。在本综述中，我们讨论了与遗传易感性、前列腺癌风险及预后相关的胚系变异。我们回顾了胚系检测的建议、可用的检测平台、遗传咨询，并讨论了与前列腺癌治疗相关的胚系变异的治疗意义。随着治疗模式向精准医学转变，了解影响前列腺癌生物学特性和风险的胚系（可遗传）突变的作用以及这些改变对潜在治疗的后续影响至关重要。此外加强患者教育策略和医疗系统基础设施对于利用相关预测生物标志物以及改善前列腺癌患者或有患该疾病高风险患者的临床结局至关重要。
