Genetic Testing in Prostate Cancer

Curr Oncol Rep. 2020 Jan 23;22(1):5. doi: 10.1007/s11912-020-0863-6.

Abstract

Purpose of review: This review summarizes recent advances in prostate cancer (PCa) genetics.

Recent findings: Upwards of 20% of metastatic castration-resistant prostate tumors (mCRPC) carry homologous recombination (HR) repair gene mutations, of which ~ 10% are germline (inherited). Another ~ 5% exhibit microsatellite instability (MSI-H) and/or mismatch repair deficiency (MMRd). Pembrolizumab is approved for tumors with MMRd, thus patients with mCRPC and MMRd are candidates for pembrolizumab. Emerging data indicate that platinum chemotherapy and poly ADP-ribose polymerase inhibitors (PARPi) are effective in PCa exhibiting HR deficiency. NCCN guidelines now recommend germline and somatic tumor testing in specific clinical scenarios due to treatment and family implications. Genetic testing in PCa patients may inform prognosis, treatment options, and have implications for family counseling. PARPi, platinum chemotherapy, and immune checkpoint inhibitors are promising targeted therapies for PCa with specific molecular features. Therapeutic advances, along with importance to relatives, are driving genetic testing in prostate cancer.

Keywords: BRCA; Genetics; Germline testing; PARPi; Prostate cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use
  • Biomarkers, Tumor / genetics
  • Clinical Trials, Phase II as Topic
  • Clinical Trials, Phase III as Topic
  • Genetic Testing / methods*
  • Genomics
  • Germ-Line Mutation
  • Humans
  • Male
  • Molecular Targeted Therapy
  • Precision Medicine
  • Prostatic Neoplasms / drug therapy*
  • Prostatic Neoplasms / genetics*
  • Prostatic Neoplasms / pathology
  • Randomized Controlled Trials as Topic

Substances

  • Antineoplastic Agents
  • Biomarkers, Tumor