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

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.

Automated summary

This systematic review aimed to summarize the findings on expression and mutation of BRCA1/2 genes in ovarian cancer patients, focusing on mutation detection technology and clinical decisions. The results showed that Next-Generation Sequencing was an effective and affordable technology for detecting BRCA1/2 gene mutations. Other technologies are also being used for mutation detection. The most significant associations of BRCA1/2 gene mutations were age, heredity, and family history, and mutations could improve survival rate and overall survival. However, there is still a lack of sufficient studies for a systematic analysis of the expression of BRCA1/2 gene in ovarian cancer.