Mutations in genes involved in homologous recombination repair (HRR) are associated with an increased risk of cancers such as breast, ovarian, and prostate cancer. We report a case of metastatic prostate cancer carrying a germline BRCA2 mutation, with a family history of multiple relatives affected by HRR-related cancers. Through pedigree analysis and genetic testing of family members, we identified several relatives carrying the same pathogenic variant as the patient. This finding supports early cancer detection in mutation carriers and allows for the development of appropriate surveillance and treatment strategies.

We conducted a case study of a patient diagnosed with metastatic prostate cancer carrying a germline BRCA2 mutation. A detailed family history was obtained, and a three-generation pedigree was constructed to assess hereditary cancer patterns. Genetic counseling was provided, and germline genetic testing was offered to at-risk family members using next-generation sequencing (NGS). Clinical data, cancer diagnoses, and genetic testing results of family members were recorded and analyzed to identify carriers of the same BRCA2 mutation.

The male patient was diagnosed with metastatic prostate cancer at initial presentation and passed away one year after treatment initiation. His family history revealed that his biological father had also been diagnosed with metastatic prostate cancer and died within one year of diagnosis. His daughter had advanced-stage ovarian cancer and also passed away within a year. Following the patient’s diagnosis, his older brother was found to have metastatic prostate cancer. Genetic testing for HRR gene mutations was performed on two of the patient’s younger siblings and two sons. One sibling and one son were found to carry the same BRCA2 germline mutation as the patient. The BRCA2-positive sibling was subsequently diagnosed with metastatic prostate cancer, while the BRCA2-positive son is currently under regular surveillance. This case highlights the critical role of genetic screening and early detection in families with a history of HRR-related cancers.

Accurate identification of germline mutations enables early disease detection, surveillance, and timely intervention for at-risk family members of mutation carriers.