DNA Damage Repair (DDR) Mutations and the Utility of High-Risk Genetics Clinics in Metastatic Castration-Refractory Prostate Cancer (mCRPC)

Nityam Rathi, Neysi Anderson, Samantha Greenberg, Jennie Vagher, Neeraj Agarwal, Andrew W. Hahn

Abstract


Germline pathogenic variants (PVs) in DNA-repair genes have garnered increasing attention in metastatic prostate cancer, and more patients are having somatic and germline DNA testing performed. Interpretation of germline DNA testing is a novel challenge for many clinicians, and the results of germline DNA-repair gene testing have significant implications for men with advanced prostate cancer and their children and siblings. Here, we report the case of a man with metastatic castration-refractory prostate cancer and a pathogenic, germline BRCA2 variant. We discuss the significance of his referral to a high-risk genetics clinic and the unique targeted therapy that he responded to.




World J Oncol. 2018;9(4):119-122
doi: https://doi.org/10.14740/wjon1144w

Keywords


Germline pathogenic variants; DNA damage repair genes; DNA damage repair mutations; PARP inhibitors; High-risk genetics clinic; Hereditary clinic; Metastatic castration-refractory prostate cancer

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