Department of Surgery, Division of Urology, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Genetic Counseling Shared Resource, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA.
Prostate. 2023 Feb;83(2):151-157. doi: 10.1002/pros.24447. Epub 2022 Oct 7.
Guidelines for germline testing in patients with prostate cancer (PCa) are identifying family members who require additional surveillance given pathogenic variants (PVs) that confer increased PCa risk. We established an interdisciplinary clinic for cancer surveillance in high-risk individuals aimed to implement screening recommendations. This study aimed to characterize the clinical features of this cohort.
The Prostate Cancer Risk Clinic (PCRC) was established for unaffected individuals with germline PVs or a strong PCa family history. PCa screening, urine labs, and questionnaires were included in the visit. Individuals with BRCA1/2 PVs underwent clinical breast exam as well. Data from the initial visit were abstracted from the medical record and questionnaires for analysis.
Thirty-five individuals with increased PCa risk were followed by the PCRC with a median age of 47 years of age. Twenty individuals (57%) had a family history of PCa, and 34 (97%) had a germline PV associated with an increased risk for developing PCa. Four individuals underwent biopsy due to care in the PCRC, with one PCa identified in an individual with TP53 PV. Median patient response scores indicated mild symptoms of an enlarged prostate (AUASS), normal erectile function (SHIM), and relatively low anxiety about developing PCa (MAX-PC). However, there were notable "outlier" scores on each questionnaire.
Individuals with prostates and BRCA1/2 PVs, among other germline PVs, can benefit from a comprehensive interdisciplinary approach to high-risk management. PCa was identified in an individual with a non-BRCA PV, emphasizing the importance and need for high-risk screening guidelines across all genes with increased risk for PCa. "Outlier" patient response scores demonstrate that some participants experienced worse symptoms or anxiety than was indicated by median scores alone.
前列腺癌（PCa）患者种系检测指南旨在确定携带致病性变异（PVs）的家族成员，这些变异会增加 PCa 风险，从而需要额外的监测。我们建立了一个针对高危个体的癌症监测多学科诊所，旨在实施筛查建议。本研究旨在描述该队列的临床特征。
前列腺癌风险诊所（PCRC）成立于携带种系 PV 或强烈 PCa 家族史的未受影响个体中。检查包括 PCa 筛查、尿液检查和问卷调查。携带 BRCA1/2 PV 的个体还接受了临床乳房检查。从医疗记录和问卷调查中提取初始就诊时的数据进行分析。
35 名具有较高 PCa 风险的个体接受了 PCRC 的随访，中位年龄为 47 岁。20 名个体（57%）有 PCa 家族史，34 名个体（97%）携带与 PCa 风险增加相关的种系 PV。由于在 PCRC 中的护理，有 4 名个体接受了活检，其中 1 名携带 TP53 PV 的个体发现了 PCa。患者平均反应评分表明轻度前列腺增大症状（AUASS）、正常勃起功能（SHIM）和相对较低的 PCa 发病焦虑（MAX-PC）。然而，每个问卷上都有明显的“异常值”评分。
携带前列腺和 BRCA1/2 PV 以及其他种系 PV 的个体可以从综合的多学科高危管理方法中受益。在携带非 BRCA PV 的个体中发现了 PCa，这强调了所有增加 PCa 风险的基因都需要制定高危筛查指南的重要性和必要性。“异常值”患者反应评分表明，一些参与者的症状或焦虑程度比平均评分所表明的更严重。
