With the advent of next-generation sequencing (NGS) technologies together with large whole-exome and genome studies in prostate and other cancers, our understanding of the landscape of genomic alterations has dramatically been refined. Several studies found that germline or acquired DNA damage repair (DDR) defects affect a high percentage of castration resistant prostate cancer (CRPC) patients. Among DDR defects, BRCA mutations show relevant clinical implications. BRCA mutations are associated with adverse clinical features in primary tumors and with poor outcomes in patients with mCRPC. In addition, BRCA mutations predict a good response to poly-ADP ribose polymerase (PARP) inhibitors. However, concerns still remain on the role of extensive mutational testing in prostate cancer patients, given the implications for patients and for their progeny. During the 2021 annual BMUC meeting, these and other issues regarding NGS testing in prostate cancer were addressed by Dr. Robin de Putter.
