Analysis Of Somatic Mutation WES Data In 15 Patients With High-grade Serous Ovarian Cancer

Objective: The whole exon sequencing technique was used to analyze somatic mutations in 15 patients with high-grade serous ovarian cancer,to understand the mechanism of ovarian cancer occurrence and development,and to explore targeted therapy for epithelial ovarian cancer,especially high-grade serous ovarian cancer.Methods: Genomic DNA was extracted from tissues of 15 patients with high-grade serous ovarian cancer.Agilent Sure Select Human All Exon V5/V6 Reagent was used to capture exon region of genome and construct database.Exon regions were sequenced by llumina Hi Seq PE150.The mutation information was obtained by comparing Clean data with human reference genome through BWA.Mutatis and Strelka were used to detect Somatic SNP/INDEL,in-house comparison was used to screen driver genes,Mu Sic was used to analyze significantly mutated genes.Results:1.Significantly tumor suppressor gene analysis: 4 tumor suppressor genes with high frequency mutations were found in 15 cases of high-grade serous ovarian cancer tissues,including TP53(10/15),MMR gene(4/15),ATM(3/15),BRCA2(2/15);2.Driver gene analysis: 30 known driver genes were found in 15 cases of high-grade serous ovarian cancer tissues,of which TP53 mutation frequency was 66.7%,all of which are missense mutations.Conclusion: In this study,DNA of 15 patients with high-grade serous ovarian cancer was subjected to WES and biological analysis,and the variation information and characteristics of relevant significantly tumor suppressor gene and driver genes were obtained,which provided a more in-depth understanding of high-grade serous ovarian cancer and a theoretical basis for early prevention and precise targeted therapy of high-grade serous ovarian cancer.