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Germline genetic testing is revolutionizing prostate cancer (PCA) care, with studies revealing inherited mutations (pathogenic variants) in a spectrum of cancer risk genes[1]. Analyses from clinical cohorts of men with PCA have reported germline mutation rates of 15% to 17% regardless of stage, with rates of DNA repair mutations reported to be approximately 12% in men with metastatic PCA[2]. Patients with prostate cancer should now undergo genetic testing of tumor tissue to identify the 30% or so of patients who can benefit[3]. The highest level of PCA risk has been reported for mutations in BRCA2, and HOXB13, with BRCA2 mutations associated with poor outcomes[1-5].

Germline Genetic Testing in Prostate Cancer, a Potential for New Understanding Screening, Evaluation and Treatment of Prostate Cancer