Predisposition to prostate cancer and clinical implications in a real-life cohort

Genetic predisposition is identified in 5–10% of prostate cancer patients. Although genetic testing is more frequently proposed, international recommendations are lacking. This study evaluates the impact of germline analysis on management of prostate cancer patients. Retrospective descriptive data were collected from prostate cancer patients who attended oncogenetic counselling between 2018 and 2021. Data included clinical and tumoral characteristics, and genomic analysis. Comparative analysis was performed between patients with germline pathogenic variants (PVs) and non-carriers using non-parametric tests. Fourteen out of the 168 patients (8.3%) had a PV, primarily in DNA repair genes (N = 13/14), including BRCA1/2 (N = 5). Twenty-five patients (14.9%) had variants of undetermined significance. Patients with PVs were more likely to have synchronous metastatic extension (79% vs 43%, p = 0.02) and a Gleason score ≥8 (82% vs 53%, p = 0.11). Significant enrichment of ATM PVs compared to a healthy control cohort was observed with an odds ratio of 32.5 [15.8–67.0] (p < 0.05). Three of five patients with BRCA1/2 PVs received DNA repair-targeted treatment. This cohort provides insights into the impact of oncogenetic counselling on prostate cancer patients’ management. It highlights the need to refine referral criteria based on disease stage and Gleason score and to further investigate ATM PVs. The data also underscore the importance of developing a care pathway with clear criteria for germline and/or somatic analysis to improve theranostic outcomes.