Prostate-specific antigen screening at low thresholds of men with pathogenic BRCA1/2 variants.

IF 5.1 2区医学 Q1 ONCOLOGY

Prostate Cancer and Prostatic Diseases Pub Date : 2025-01-21 DOI:10.1038/s41391-025-00938-z

Hein V Stroomberg, Klaus Brasso, Anna A Blak, Anna Byrjalsen, Thomas van Overeem Hansen, Andreas Røder

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引用次数: 0

Abstract

Background: Men with pathogenic BRCA1/2 variants are at higher risk of prostate cancer We included men with likely pathogenic/pathogenic (LP/P) variants in BRCA1/2 in a prostate-specific antigen (PSA) screening program after cascade germline testing since 2014. PSA was tested yearly and an age-specific low PSA threshold for biopsy was used, to determine if a low PSA threshold for biopsy is justified for men with pathogenic BRCA1/2 variants.

Methods: From 2014 to 2023 a total of 340 men were included in the program. We report demographics, clinical characteristics, and treatment outcomes at 7 years.

Results: The cumulative incidence of a primary biopsy was 37% (95CI: 31‒43) after 7 years. Incidence of prostate cancer diagnosis was 11% (95CI: 7.1‒15). Men referred were 7.8 (95CI: 5.3‒11, p < 0.001) times more likely to be diagnosed with prostate cancer than the general Danish male population. The cumulative incidence of biochemical failure (PSA > = 0.2 ng/ml) 4 years after RP was 22% (95CI: 2.3‒41). The main limitation is that not all men underwent a pre-biopsy MRI.

Conclusion: We found a high incidence of prostate cancer in men with LP/P BRCA1/2 variants, but this may be explained by the low PSA threshold for scheduling biopsies. More studies are needed to compare this patient population to men with other germline features. The high risk of recurrence after curative therapy is worrisome and requires further evaluation as to whether this is a biological phenomenon.

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低阈值前列腺特异性抗原筛查男性致病性BRCA1/2变异。

背景：携带BRCA1/2致病性变异的男性患前列腺癌的风险更高。自2014年以来，我们在级联生殖系检测后，将BRCA1/2可能致病性/致病性（LP/P）变异的男性纳入前列腺特异性抗原（PSA）筛查项目。每年检测PSA，并使用年龄特异性低PSA活检阈值，以确定低PSA活检阈值是否适用于具有致病性BRCA1/2变异的男性。方法：2014 - 2023年共纳入340名男性。我们报告了7年的人口统计学、临床特征和治疗结果。结果：7年后原发性活检的累积发生率为37% （95CI: 31-43）。前列腺癌诊断发生率为11% （95CI: 7.1-15）。参考的男性为7.8 (95CI: 5.3-11, p = 0.2 ng/ml)， 4年后RP为22% （95CI: 2.3-41）。主要的限制是并不是所有的男性都接受了活检前的MRI检查。结论：我们发现LP/P BRCA1/2变异的男性前列腺癌发病率高，但这可能是由于安排活检的PSA阈值较低。需要更多的研究将这一患者群体与具有其他生殖系特征的男性进行比较。治疗后复发的高风险令人担忧，需要进一步评估这是否是一种生物学现象。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Prostate Cancer and Prostatic Diseases 医学-泌尿学与肾脏学

CiteScore

10.00

自引率

6.20%

发文量

142

审稿时长

6-12 weeks

期刊介绍： Prostate Cancer and Prostatic Diseases covers all aspects of prostatic diseases, in particular prostate cancer, the subject of intensive basic and clinical research world-wide. The journal also reports on exciting new developments being made in diagnosis, surgery, radiotherapy, drug discovery and medical management. Prostate Cancer and Prostatic Diseases is of interest to surgeons, oncologists and clinicians treating patients and to those involved in research into diseases of the prostate. The journal covers the three main areas - prostate cancer, male LUTS and prostatitis. Prostate Cancer and Prostatic Diseases publishes original research articles, reviews, topical comment and critical appraisals of scientific meetings and the latest books. The journal also contains a calendar of forthcoming scientific meetings. The Editors and a distinguished Editorial Board ensure that submitted articles receive fast and efficient attention and are refereed to the highest possible scientific standard. A fast track system is available for topical articles of particular significance.