在携带BRCA1或BRCA2致病性生殖系变异的携带者中向性前列腺癌查检测出临床相关的疾病:IMPACT研究的5年结果
Elizabeth K Bancroft1, Elizabeth C Page2, Jana McHugh2
1Oncogenetics Team, Genetics and Epidemiology, The Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, The Royal Marsden NHS Foundation Trust, London, UK.
European urology
|February 19, 2026
概括
在患有BRCA1/BRCA2病原性生殖系变异 (PGVs) 的男性中,使用PSA查前列腺癌 (PC) 发现BRCA2载体中临床显著PC的比率较高. 在BRCA1携带者中也发现了相关瘤的早期检测.
科学领域:
- 遗传学和瘤学研究
- 前列腺癌研究 研究前列腺癌
- 临床查试验 临床查试验
背景情况:
- 在BRCA1和BRCA2基因中的致病性生殖系变异 (PGV) 会增加前列腺癌 (PC) 风险.
- 在IMPACT研究中,研究了前列腺特异性抗原 (PSA) 查在患有这些PGV的人群中的有效性.
研究的目的:
- 评估每年PSA查在检测BRCA1/BRCA2PGV携带者中PC的有用性.
- 在五轮查中,比较PGV携带者和非携带者之间的PC发生率,临床显著PC (csPC) 和瘤特征.
主要方法:
- 招募了3063名40-69岁的男性,分为两个队伍:BRCA1/BRCA2 PGV携带者和年龄匹配的非携带者.
- 从2005年至2015年每年进行PSA查.
- 使用的PSA水平>3.0 ng/ml作为前列腺活检的指示.
主要成果:
- 运营商和非运营商之间的PC总体发病率没有显著差异.
- 与非携带者 (1.3%) 相比,BRCA2 PGV携带者 (3.1%) 的cSPC发病率显著更高.
- 在PGV携带者和非携带者之间检测到的BRCA1 (56%) 和BRCA2 (65%) 携带者中,中期不利/高风险瘤的比例更高.
结论:
- 在BRCA2 PGV携带者中每年进行的PSA查证实了较高的csPC发病率和临床相关的瘤检测.
- PSA 查有助于在 BRCA1 PGV 携带者中早期检测 NCCN 中级不良/高风险 PC.
- 建议对BRCA2载体进行系统的PSA查,并应考虑对BRCA1载体进行查.
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