PURPOSE Identification of pathogenic germline variants in patients with prostate cancer can help inform treatment selection, screening for secondary malignancies, and cascade testing. Limited real-world data are available on clinician recommendations following germline genetic testing in patients with prostate cancer. MATERIALS AND METHODS Patient data and clinician recommendations were collected from unselected patients with prostate cancer who underwent germline testing through the PROCLAIM trial. Differences among groups of patients were determined by 2-tailed Fisher's exact test with significance set at P < .05. Logistic regression was performed to assess the influence of test results in clinical decision-making while controlling for time of diagnosis (newly vs previously diagnosed). RESULTS Among 982 patients, 100 (10%) were positive (≥1 pathogenic germline variant), 482 (49%) had uncertain results (≥1 variant of uncertain significance), and 400 (41%) were negative. Patients with positive results were significantly more likely than those with negative or uncertain results to receive recommendations for treatment changes (18% vs 1.4%, P < .001), follow-up changes (64% vs 11%, P < .001), and cascade testing (71% vs 5.4%, P < .001). Logistic regression demonstrated that positive and uncertain results were significantly associated with both changes to treatment and follow-up (P < .001) when controlling for new or previous diagnosis. CONCLUSIONS Germline genetic testing results informed clinical recommendations for patients with prostate cancer, especially in patients with positive results. Higher than anticipated rates of clinical management changes in patients with uncertain results highlight the need for increased genetic education of clinicians treating patients with prostate cancer.

中文翻译：

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临床医生报告的针对前列腺癌患者普遍种系基因检测的管理建议。


目的 鉴定前列腺癌患者的致病性种系变异有助于为治疗选择、继发性恶性肿瘤筛查和级联检测提供信息。在前列腺癌患者进行种系基因检测后，临床医生的建议可用的真实世界数据有限。材料和方法 从 PROCLAIM 试验接受种系检测的未经选择的前列腺癌患者中收集患者数据和临床医生建议。通过 2 尾 Fisher 精确检验确定患者组间的差异，显着性设置为 P < .05。进行 Logistic 回归以评估测试结果对临床决策的影响，同时控制诊断时间 （新诊断与既往诊断）。结果 在 982 例患者中，100 例 （10%） 为阳性 （≥1 种致病性种系变异），482 例 （49%） 结果不确定 （≥1 种变异意义不明），400 例 （41%） 为阴性。结果阳性的患者比结果阴性或不确定的患者更有可能接受治疗改变的建议 （18% vs 1.4%，P < .001）、随访变化 （64% vs 11%，P < .001） 和级联试验 （71% vs 5.4%，P < .001）。Logistic 回归分析显示，在控制新诊断或既往诊断时，阳性和不确定结果与治疗和随访的变化显著相关 （P < .001）。结论 种系基因检测结果为前列腺癌患者的临床推荐提供了信息，尤其是阳性结果的患者。 在结果不确定的患者中，高于预期的临床管理变化率凸显了对治疗前列腺癌患者的临床医生加强遗传教育的必要性。