Department of Medicine, Tulane University School of Medicine, New Orleans, Louisiana, USA.
Department of Urology, Tulane University School of Medicine, New Orleans, Louisiana, USA.
Prostate. 2021 May;81(7):427-432. doi: 10.1002/pros.24120. Epub 2021 Mar 24.
Recent literature highlights the importance of germline genetic testing in prostate cancer (PCa) patients. Surprisingly, a literature review indicates that family history (FH) records are incomplete in the major published studies from prostate cancer patients.
Prospective family history data were gathered from 496 men in a single institution with a personal history of PCa who underwent germline genetic testing using a panel of at least 79 genes. Comprehensive first degree FH were obtained in all PCa of patients and analysis of prevalent FH was assessed at the time of sample collection.
Pathogenic/likely pathogenic variants (PV/LPVs) were not associated with age at diagnosis, race, or presence of metastasis. One or more first degree relatives (FDR) with any cancer was not predictive for germline PV/LPVs for men with PCa (p = .96). Separate analysis of patients with one or more FDR with breast, prostate, ovarian, or pancreatic cancer revealed that only FDR with breast or ovarian cancer was predictive for PV/LPVs (p = .028, p = .015 respectively). Patients with a FDR with breast cancer had 1.8 increased risk of PV/LPVs, and patients with a FDR with ovarian cancer had 2.9 increased risk of PV/LPV.
In men with a personal history of PCa, germline PV/LPVs were associated with a FDR with breast or ovarian cancer. Notably having FDRs with PCa does not predict for PV/LPVs. These data emphasize the contribution of FH in a data set with complete ascertainment of FH.
近期文献强调了对前列腺癌（PCa）患者进行种系基因检测的重要性。令人惊讶的是，文献回顾表明，在来自前列腺癌患者的主要已发表研究中，家族史（FH）记录并不完整。
从一家机构中 496 名有 PCa 个人病史的男性中前瞻性地收集家族史数据，这些男性接受了至少 79 个基因的种系基因检测。对所有 PCa 患者的综合一级 FH 进行了评估，并在样本采集时评估了常见 FH 的分析。
致病性/可能致病性变异（PV/LPVs）与诊断时的年龄、种族或转移的存在无关。一级亲属（FDR）中有一人或多人患有任何癌症并不能预测有前列腺癌的男性的种系 PV/LPVs（p=0.96）。对一级亲属中有一人或多人患有乳腺癌、前列腺癌、卵巢癌或胰腺癌的患者进行单独分析，结果表明，只有一级亲属中有乳腺癌或卵巢癌的患者的 PV/LPVs 具有预测性（p=0.028，p=0.015）。有乳腺癌一级亲属的患者发生 PV/LPVs 的风险增加了 1.8 倍，有卵巢癌一级亲属的患者发生 PV/LPVs 的风险增加了 2.9 倍。
在有 PCa 个人病史的男性中，种系 PV/LPVs 与有乳腺癌或卵巢癌一级亲属有关。值得注意的是，有 PCa 一级亲属并不预示着存在 PV/LPVs。这些数据强调了 FH 在 FH 完全确定的数据集在中的贡献。
