The role of genetic testing in prostate cancer screening, diagnosis, and treatment

Abstract

Purpose of reviewThis review provides an overview of the current role of genetic testing in prostate cancer screening, diagnosis, and treatment. Recent findingsRecent studies have uncovered few but highly penetrant rare pathogenic mutations (RPMs), in genes, such as BRCA2, with strong prostate cancer risk and outcomes associations. Over 260 single nucleotide polymorphisms (SNPs) have also been identified, each associated with small incremental prostate cancer risk and when combined in a polygenic risk score (PRS), they provide strong prostate cancer risk prediction but do not seem to predict outcomes. Tumor tissue sequencing can also help identify actionable somatic mutations in many patients with advanced prostate cancer and inform on their risk of harboring a germline pathogenic mutation. SummaryRPM testing, PRS testing, and tumor sequencing all have current and/or potential future roles in personalized prostate cancer care. Keywords genetic testing, germline mutations, polygenic risk score, prostate cancer MEASURES OF INHERITED PROSTATE CANCER RISK Family history and genetic ancestryRecording family history, self-reported race and ethnicity are some of the earliest forms of 'genetic' testing, and along with age remain some of the