Department of Medical Oncology, Cancer Biology, and Urology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania.
Department of Urology, University of Michigan Urology Cancer Center, Ann Arbor, Michigan.
CA Cancer J Clin. 2022 Jul;72(4):360-371. doi: 10.3322/caac.21720. Epub 2022 Feb 24.
Inherited genetic mutations can significantly increase the risk for prostate cancer (PC), may be associated with aggressive disease and poorer outcomes, and can have hereditary cancer implications for men and their families. Germline genetic testing (hereditary cancer genetic testing) is now strongly recommended for patients with advanced/metastatic PC, particularly given the impact on targeted therapy selection or clinical trial options, with expanded National Comprehensive Cancer Network guidelines and endorsement from multiple professional societies. Furthermore, National Comprehensive Cancer Network guidelines recommend genetic testing for men with PC across the stage and risk spectrum and for unaffected men at high risk for PC based on family history to identify hereditary cancer risk. Primary care is a critical field in which providers evaluate men at an elevated risk for PC, men living with PC, and PC survivors for whom germline testing may be indicated. Therefore, there is a critical need to engage and educate primary care providers regarding the role of genetic testing and the impact of results on PC screening, treatment, and cascade testing for family members of affected men. This review highlights key aspects of genetic testing in PC, the role of clinicians, with a focus on primary care, the importance of obtaining a comprehensive family history, current germline testing guidelines, and the impact on precision PC care. With emerging evidence and guidelines, clinical pathways are needed to facilitate integrated genetic education, testing, and counseling services in appropriately selected patients. There is also a need for providers to understand the field of genetic counseling and how best to collaborate to enhance multidisciplinary patient care.
遗传基因突变可显著增加前列腺癌(PC)的风险,可能与侵袭性疾病和较差的预后相关,并可能对男性及其家属的遗传性癌症产生影响。目前强烈建议对晚期/转移性 PC 患者进行种系基因检测(遗传性癌症基因检测),尤其是考虑到对靶向治疗选择或临床试验方案的影响,国家综合癌症网络指南已经扩大,并得到多个专业协会的认可。此外,国家综合癌症网络指南建议对处于不同疾病分期和风险谱的 PC 男性以及基于家族史存在高 PC 风险的未患病男性进行基因检测,以识别遗传性癌症风险。初级保健是一个关键领域,在该领域中,提供者会对 PC 风险升高的男性、患有 PC 的男性以及可能需要种系检测的 PC 幸存者进行评估。因此,迫切需要让初级保健提供者参与并了解基因检测的作用以及检测结果对 PC 筛查、治疗和受影响男性家庭成员的级联检测的影响。本综述重点介绍了 PC 基因检测的关键方面、临床医生的作用(重点是初级保健)、获取全面家族史的重要性、当前种系检测指南,以及对 PC 精准医疗的影响。随着新证据和指南的出现,需要制定临床路径,以便在适当选择的患者中提供综合的遗传教育、检测和咨询服务。提供者还需要了解遗传咨询领域,以及如何更好地合作以加强多学科患者护理。