Pathogenic BRCA Variants as Biomarkers for Risk in Prostate Cancer

Abstract

Studies have demonstrated that men with Prostate Cancer (PCa) harboring BRCA2/BRCA1 genetic aberrations, are more likely to have worse disease and a poorer prognosis. A mutation in BRCA2 is known to confer the highest risk of PCa for men (8.6 fold in men ≤65 years) making BRCA genes a conceivable genomic biomarker for risk in PCa. These genes have attracted a lot of research attention however their role in the clinical assessment and treatment of PCa remains complex. Multiple studies have been published examining the relationship between prostate cancer and BRCA mutations. Here BRCA mutations are explored specifically as a biomarker for risk in PCa. It is in this context, we examined the prognostic, clinical and therapeutic role of BRCA2/BRCA1 mutations across the evolution of PCa. The impact of the inclusion of BRCA genes on genetic screening will also be outlined.

Keywords: BRCA1; BRCA2; biomarker; gene mutation; prostate cancer; screening; treatment strategies.

Figure 1

This figure demonstrates mutation distribution for BRCA2 gene as extracted from COSMIC database 2021. (a) An overview of the types of mutations observed (b) a breakdown of the observed substitution mutations.