High-Grade Prostate Adenocarcinoma in a BRCA2 Germline Mutation Carrier: Precision Oncology and Familial Cascade Testing: a case report

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Abstract

Background : Germline mutations in BRCA2 are strongly associated with young age and dangerous prostate cancer due to the lack of homologous recombination (HRD), suggesting a window for targeted therapy and emphasizing the importance of family-oriented genetic screening. Case Presentation: The patient was of Iranian origin. A 43-year-old man presented with locally advanced prostate adenocarcinoma (Gleason 4+4, T3bN0M0) harboring a pathogenic BRCA2 c.6501G>A mutation. He was treated with combined androgen blockade using goserelin, abiraterone, prednisolone, and denosumab, and had PSA reduction from 38 to 2.1 ng/mL over three months. This discovery led to cascade genetic testing in his relatives. Conclusion : This case provides the key role of germline early testing to guide personalized therapy and initiate familial risk management strategies in hereditary prostate cancer.

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