Recent Insights on Genetic Testing in Primary Prostate Cancer

Abstract

Prostate cancer (PCa) is one of the most common cancers in developed countries. The results of large trials indicate that the proportion of PCa attributable to hereditary factors is as high as 15%, highlighting the importance of genetic testing. Despite improved understanding of the prevalence of pathogenic variants among men with PCa, it remains unclear which men will most benefit from genetic testing. In this review, we summarize recent evidence on genetic testing in primary PCa and its impact on routine clinical practice. We outline current guideline recommendations on genetic testing, most importantly, for mutations in BRCA1/2, MMR, CHEK2, PALB2, and HOXB13 genes, as well as various single nucleotide polymorphisms associated with an increased risk of developing PCa. The implementation of genetic testing in clinical practice, especially in young patients with aggressive tumors or those with positive family history, represents a new challenge for the coming years and will identify men with pathogenic variants who may benefit from early screening/intervention and specific therapeutic options. Key PointsGenetic testing is an important part of personalized diagnosis and treatment of prostate cancer (PCa).Recent clinical studies have highlighted specific genes (e.g., BRCA 1/2, PALB2, CHEK, HOXB13) and single nucleotide polymorphisms as special genes of interest.One future goal of genetic testing is to detect men harboring an increased risk of lethal PCa.