부산대학교 도서관

Objectives Prostate cancer features have been linked to mutations in the BRCA1 and BRCA2 genes. Assessing the status of BRCA1 and BRCA2 gene carriers in patients contributes to accurate diagnosis, disease prognosis as well as appropriate targeted treatment methods. This study evaluated the prevalence of these mutations in Vietnamese prostate cancer patients and assessed their correlation with clinical features. Methods A cross-sectional study was performed at Bach Mai Hospital between 2021 and 2022. We enrolled 60 prostate cancer patients. Next-generation gene sequencing was used to identify BRCA1 and BRCA2 mutations in formalin-fixed paraffin-embedded samples. Patients with somatic gene mutations underwent further germline mutation analysis. We also reported a case series following the British Medical Journal guidelines, detailing the clinical course of such patients. Results Patients with BRCA2 pathogenic variants revealed no BRCA1 mutations, although different mutations were identified. Two patients showed germline mutations. Patients with BRCA mutations were younger (average age: 66.2 years) than those with non-mutations (72.1 years) at diagnosis. High Gleason scores, lymph node metastases, and distant metastases were more prevalent in the mutation group. One patient with germline BRCA mutation had aggressive prostate cancer and early resistance to non-PARPi (Poly ADP-ribose polymerase inhibitors) treatments. Conclusions We provide preliminary data on BRCA mutations in Vietnamese patients with prostate cancer, suggesting that BRCA2 mutations correlate with aggressive disease characteristics. Our findings further elucidate the clinical implications of these mutations.