Impact of prostate cancer screening in European ancestry un-affected men with germline DNA repair pathogenic variants

IF 1.6 Q3 UROLOGY & NEPHROLOGY

BJUI compass Pub Date : 2025-01-31 DOI:10.1002/bco2.424

Vittorio Fasulo, Giuseppe Chiarelli, Giuseppe Garofano, Carla Barbara Ripamonti, Monica Barile, Paolo Bianchi, Emanuela Morenghi, Alessio Benetti, Muhannad Aljoulani, Alessio Finocchiaro, Marco Paciotti, Pier Paolo Avolio, Edoardo Beatrici, Paola Arena, Alberto Saita, Rodolfo Hurle, Federica Maura, Giorgio Da Rin, Rosanna Asselta, Anita Capalbo, Giulia Soldà, Paolo Casale, Nicolò Maria Buffi, Giovanni Lughezzani, Massimo Lazzeri

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Abstract

Background and Objective

Prostate cancer (PCa) is a significant global health concern, ranking as the second most prevalent cancer among men worldwide. Genetic factors, particularly germline pathogenic variants (PVs) in DNA repair genes (DRGs), play a crucial role in PCa predisposition. Our study aimed to assess patients' adherence to a targeted PCa screening program targeting high-risk individuals with DRG PVs and evaluate the potential reduction in biopsy and MRI rates by employing our screening protocol.

Methods

We conducted a prospective ongoing trial evaluating targeted PCa screening in men with documented PVs in DRGs. Screening involved annual assessment of medical history, physical examination, prostate-specific antigen (PSA) testing, Prostate Health Index (PHI), and multiparametric magnetic resonance imaging (mpMRI) when indicated. Descriptive statistics were used to analyse patient characteristics, and adherence to screening was evaluated at three time points: baseline (T0), one year (T1), and two years (T2) from enrolment.

Key Findings and Limitations

A total of 101 high-risk individuals were enrolled, with a median age of 52 years. Adherence to screening was high, with 72.3% of patients attending the first annual follow-up (T1) and 100% attending the second follow-up (T2). Despite elevated PSA levels in some patients, no PCa was detected during the study period. However, our screening protocol demonstrated the potential in reducing unnecessary biopsies and MRIs, particularly in patients with elevated PSA but low PHI values. Limitations include the ongoing nature of the study, small sample size, and lack of non-carrier controls.

Conclusions and Clinical Implications

Our findings described a new PCa screening strategy integrated with genetic risk factors. The incorporation of PHI shows promise in improving the efficiency of diagnostic procedures while minimizing unnecessary interventions. High adherence among high-risk individuals underscores the potential effectiveness of targeted screening programs.

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前列腺癌筛查对欧洲血统未受影响的男性生殖系DNA修复致病变异的影响

背景与目的前列腺癌（PCa）是一个重要的全球健康问题，是全球男性中第二大常见癌症。遗传因素，特别是DNA修复基因（DRGs）中的种系致病变异（pv），在PCa易感性中起着至关重要的作用。我们的研究旨在评估患者对针对DRG pv高危个体的靶向PCa筛查方案的依从性，并评估采用我们的筛查方案可能降低活检和MRI率。方法：我们进行了一项前瞻性的正在进行的试验，评估DRGs中有PVs的男性的靶向PCa筛查。筛查包括年度病史评估、体格检查、前列腺特异性抗原（PSA）检测、前列腺健康指数（PHI）和多参数磁共振成像（mpMRI）。描述性统计用于分析患者特征，并在三个时间点评估筛查的依从性：基线（T0），入组后一年（T1）和两年（T2）。主要发现和局限性共纳入101例高危人群，中位年龄为52岁。筛查的依从性很高，72.3%的患者参加了第一次年度随访（T1）， 100%参加了第二次随访（T2）。尽管一些患者的PSA水平升高，但在研究期间未检测到PCa。然而，我们的筛查方案显示了减少不必要的活检和mri的潜力，特别是在PSA升高但PHI值较低的患者中。局限性包括研究的持续性质、小样本量和缺乏非携带者对照。结论和临床意义我们的研究结果描述了一种结合遗传风险因素的新的前列腺癌筛查策略。PHI的结合有望提高诊断程序的效率，同时最大限度地减少不必要的干预。高危人群的高依从性强调了靶向筛查项目的潜在有效性。

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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