Prostate Cancer in a Patient with a Family History of BRCA Mutation: a Case Report and Literature Review

J Korean Med Sci. 2017 Feb;32(2):377-381. doi: 10.3346/jkms.2017.32.2.377.

Abstract

One of the most significant risk factors for prostate cancer (PC) is a family history of the disease, with germ-line mutations in the breast cancer predisposition gene (BRCA) 2 conferring the highest risk. We here report a 56-year-old man presented with painful gait disturbance and diagnosed PC with multiple disseminated bone metastases. The patient had a strong family history of breast cancer with his 2 nieces affected. Furthermore, his aunts and uncles from both sides were diagnosed with stomach, ovarian, and colorectal cancers. His genomic sequencing analysis of the BRCA genes revealed the same BRCA2 deleterious mutation that his breast cancer-affected nieces carried. Previous studies have suggested that BRCA2-mutated PC is associated with a more aggressive phenotype and poor prognosis. Our experience in the present case also indicated the urgent needs for novel treatment modality and PC screening in this high-risk group of patients.

Keywords: BRCA; Family History; Genetic Mutation; Prostate Cancer.

Publication types

  • Case Reports
  • Review

MeSH terms

  • BRCA2 Protein / genetics*
  • Bone and Bones / diagnostic imaging
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Prostate-Specific Antigen / blood
  • Prostatic Neoplasms / diagnosis*
  • Prostatic Neoplasms / genetics
  • Prostatic Neoplasms / pathology

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • Prostate-Specific Antigen