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Genetic testing in prostate cancer management: Considerations informing primary care
CA: A Cancer Journal for Clinicians ( IF 254.7 ) Pub Date : 2022-02-24 , DOI: 10.3322/caac.21720
Veda N Giri 1 , Todd M Morgan 2 , David S Morris 3 , Jacob E Berchuck 4 , Colette Hyatt 5 , Mary-Ellen Taplin 4
Affiliation  

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.

中文翻译:

前列腺癌管理中的基因检测:告知初级保健的注意事项

遗传性基因突变会显着增加患前列腺癌 (PC) 的风险,可能与侵袭性疾病和较差的结果有关,并且可能对男性及其家庭产生遗传性癌症影响。生殖系基因检测(遗传性癌症基因检测)现在被强烈推荐用于晚期/转移性 PC 患者,特别是考虑到对靶向治疗选择或临床试验选择的影响,以及扩展的国家综合癌症网络指南和多个专业协会的认可。此外,国家综合癌症网络指南建议对跨阶段和风险谱的 PC 男性进行基因检测,并根据家族史对 PC 高风险的未受影响男性进行基因检测,以确定遗传性癌症风险。初级保健是一个关键领域,在该领域中,提供者评估 PC 风险较高的男性、患有 PC 的男性以及可能需要进行生殖系检测的 PC 幸存者。因此,迫切需要让初级保健提供者了解基因检测的作用以及结果对受影响男性家庭成员的 PC 筛查、治疗和级联检测的影响。本综述重点介绍了 PC 中基因检测的关键方面、临床医生的作用,重点关注初级保健、获得全面家族史的重要性、当前的生殖系检测指南以及对精准 PC 护理的影响。With emerging evidence and guidelines, clinical pathways are needed to facilitate integrated genetic education, testing, and counseling services in appropriately selected patients.
更新日期:2022-02-24
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