卵巢癌中BRCA1/2基因的表达和突变:全球系统性研究。
The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
发表日期:2023 Jan 18
作者:
Dinh-Toi Chu, Mai Vu Ngoc Suong, Hue Vu Thi, Thuy-Duong Vu, Manh-Hung Nguyen, Vijai Singh
来源:
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
摘要:
这项系统综述的目的在于总结卵巢癌(OC)患者中BRCA1/2基因表达和突变的研究结果,侧重于突变检测技术,并针对临床决策以实现更好的治疗效果。我们按照“系统综述和Meta分析报告宣布”的文献选择指南和PICOT标准进行系统综述。总共收录了5729篇文献,最终筛选出50篇文章。结果表明,由于其高效性和价廉性,下一代测序是检测乳腺癌1/2(BRCA1/2)基因突变的突破性技术。目前也正在应用其他技术进行突变检测。BRCA1/2基因突变的最显著联系是年龄,遗传以及家族史。此外,BRCA1/2基因的突变可以提高生存率和总生存率。目前没有充分的研究可用于总结OC中BRCA1/2基因表达的系统分析。未来研究将继续开发更多基于BRCA1/2基因表达和突变的诊断技术,以应用于OC的诊疗。
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.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.Research will continue to develop more diagnostic techniques based on the expression and mutation of BCRA1/2 genes for OC in the near future.