Absence of prostate cancer events after 3 years of tailored screening in high-risk individuals with germline pathogenic variants in DNA repair genes.

• DOI: 10.1200/jco.2025.43.5_suppl.337
• Publication Date: 2025-02-18T14:33:57Z
• Authors: Vittorio Fasulo; Giuseppe Chiarelli; NicolòMaria Buffi; Pier Paolo Avolio; Giuseppe Garofano; Muhannad Aljoulani; Rosanna Asselta; Giulia Soldà; Ilaria De Simone; Piergiuseppe Colombo; Miriam Cieri; Rodolfo Hurle; Marco Paciotti; Paolo Casale; Federica Maura; Pietro Cavalli; Giovanni Lughezzani; Massimo Lazzeri

337 Background: The increasing focus on patient-centered care and the development of precision medicine emphasize need for alternative screening pathways high-risk individuals. Family history is a significant risk factor prostate cancer (PCa), identifying patients with genetic predisposition crucial. discovery germline pathogenic variants (PVs) in DNA repair genes (DRGs) underscores importance dedicated approach. This study aimed to evaluate effectiveness compliance tailored protocol that population, incorporating Prostate Health Index (PHI) multiparametric MRI (mpMRI). Methods: prospective study, based novel concept funded by AIRC (project IG 2020 ID 25027), was conducted at tertiary hospital collaboration department Oncology, Urology, Pathology, Radiology, Medical Genetics. included men aged 35-69 documented PVs DRGs who consented participate protocol. Probands were recruited two categories: Male relatives women affected breast or ovarian cancer; diagnosed high-grade PCa (ISUP >2). Participants underwent annual PSA testing, PHI assessments, digital rectal examinations (DRE), mpMRI individual stratification (PHI<20, 20<PHI<40, PHI>40). Results: Between 2021 2024, 102 enrolled, median age 52 years (IQR 46-61). Of these, 100 from women’s cohort, 2 men’s cohort. level 0.9 ng/mL 0.5-1.7), 17 12.0-23.2). distribution BRCA2 (56.1%), BRCA1 (18.6%), ATM (4.92%), PMS2 (2.94%), other less frequent PVs. Screening high, 95% completing T1 visit, 86% T2 100% T3 visit. Among >20 <40, 81.5% mpMRI. Only one patient had positive result biopsy, which negative PCa. An additional three biopsy due clinical suspicion, all resulting negative. those >40, 66.7% and, as per protocol, also resulted Interestingly, T2, 33.3% >3 <20, thereby avoiding Despite no cases being detected after follow-up, bladder (BC). Conclusions: demonstrated, so far, low diagnosing identified, contrast results referral IMPACT study. However, (BC) raise new perspectives role their relationship urological neoplasms. Enrollment ongoing, further follow-up may provide insights.