The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study

Expert Rev Mol Diagn. 2023 Jan;23(1):53-61. doi: 10.1080/14737159.2023.2168190. Epub 2023 Jan 18.


Introduction: This systematic review was designed to summarize the findings on expression and mutation of BRCA1/2 genes in ovarian cancer (OC) patients, focusing on mutation detection technology and taking clinical decisions for better treatment.

Areas covered: We conducted a systematic review by following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses document selection guidelines for the document selection process and the PICOT standard for developing the keywords to search for. A total of 5729 publications were included, and 50 articles were put into the final screening. The results showed that Next-Generation Sequencing was a breakthrough technology in detecting Breast Cancer 1/2 (BRCA1/2) gene mutations because of its efficacy and affordability. Other technologies are also being applied now for mutation detection. The most prominent associations of BRCA1/2 gene mutations were age, heredity, and family history. Furthermore, mutations of BRCA1/2 could improve survival rate and overall survival. There is no sufficient study available to conclude a systematic analysis for the expression of BRCA1/2 gene in OC.

Expert opinion: Research will continue to develop more diagnostic techniques based on the expression and mutation of BCRA1/2 genes for OC in the near future.

Keywords: BRCA1/2 gene in ovarian cancer; The mutation of BRCA1/2; the expression of BRCA1/2.

Publication types

  • Systematic Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms* / genetics
  • Female
  • Genes, BRCA1
  • Genetic Predisposition to Disease
  • High-Throughput Nucleotide Sequencing / methods
  • Humans
  • Mutation
  • Ovarian Neoplasms* / diagnosis
  • Ovarian Neoplasms* / genetics


  • BRCA1 Protein
  • BRCA2 Protein
  • BRCA1 protein, human