BRCA1/2 Mutation Testing in Prostate Cancer Patients during Routine Clinical Care
DOI: 10.22591/magyurol.2025.4.soosa.159
Authors:
Soós Áron dr.1, Csizmarik Anita dr.1, Tímár József dr.2, Barbai Tamás dr.2,
Riesz Péter dr.1, Horváth András dr.1, Szűcs Miklós dr.1, Nyirády Péter dr.1, Szarvas Tibor dr.1,3
1Urológiai Klinika, Semmelweis Egyetem, Budapest, Magyarország
2Patológiai, Igazságügyi és Biztosítási Orvostani Intézet, Semmelweis Egyetem, Budapest, Magyarország
3Urológiai Klinika, Esseni Egyetemi Klinika, Essen, Németország
Summary
BRCA1/2-mutations have significant clinical relevance in metastatic castration-resistant prostate cancer (mCRPC), with a relatively high prevalence (10–15%) and an established association with poorer prognosis as well as improved response to targeted PARP inhibitor therapies. The aim of our study was to summarize the clinical, technical, and therapeutic experience related to BRCA1/2 gene sequencing initiated at the Department of Urology, Semmelweis University, between 2019 and 2024. BRCA1/2 testing was performed in 143 prostate cancer patients, of whom 124 yielded successful sequencing results, with a 17% BRCA1/2 positivity rate. In 92% of cases, testing was initiated in the metastatic stage and most often used tissue samples from core needle biopsies, radical or transurethral surgeries, or peripheral blood. The highest failure rate was observed in needle biopsy samples (13%; p=0.016). The age of the samples did not significantly affect sequencing success. BRCA1/2-positive patients generally received a higher number of systemic therapies, and 38% underwent PARP-inhibitor or platinum-based treatment. Our findings confirm that the implementation of BRCA1/2 sequencing in prostate cancer diagnostics is effective and supports personalized decision-making in routine clinical practice.