Mutation Of High-frequency Mutated Genes And Tumor Susceptibility Genes In High-grade Serous Ovarian Cancer By Whole-exome Sequencing

Objective: Whole-exome sequencing(Whole Exome Sequencing,WES)technology is used to analyze and study the mutations of high-frequency mutated genes and relate susceptibility genes in patients with high-grade serous ovarian cancer,to find new targets for ovarian cancer treatment,and to conduct accurate clinical treatment of ovarian cancer.Methods: The ovarian cancer tissue samples were collected from the Fourth Hospital of Hebei Medical University,and a total of 15 patients with high-grade serous ovarian cancer were screened.Firstly,DNA was extracted from fresh surgical tissues,and the Agilent liquid-phase chip capture system was used for total external capture.After the library inspection was qualified,high-throughput and high-depth sequencing was conducted on Illumina Hiseq platform.This study used SAMtools for SNP/INDEL detection,screened tumor susceptibility genes through in-house,and analyzed high frequency somatic mutation genes through Mu Sic.Results:1.WES sequencing data of 15 patients with high-grade serous ovarian cancer were obtained in this study,and their quality distribution was more than Q30(≥80%).2.Among the 6 point mutation types,the main type is C>T/G>A.3.Among the 15 samples,30 high-frequency mutated genes were screened out,the main mutation form was missense mutation,and TP53 was a high-frequency mutated gene.4.In this study,30 tumor susceptibility genes were screened,PDE4D1 P was mutated in 12 patients,FOXP1 was mutated in 7 patients,RUNX1、JAK2,STAT6,ARIDIA were also found.Conclusion:1.TP53 is a high-frequency mutant gene,which is a common tumor suppressor gene.It can be found that multiple mutations can occur in the same patient,which can further guide clinical individualized treatment.2.Tumor susceptibility genes obtained by screening are all involved in the pathogenesis of ovarian cancer through different mechanisms,the number of samples in this study is small,and the mutation frequency of relevant genes found may be different from the existing conclusions;The specific mechanism of individual genes involved in the pathogenesis of ovarian cancer still needs a large number of clinical trials.