Analysis Of WES Data In 12 Patients With High-Grade Serous Ovarian Cancer

Objective: Ovarian cancer is one of the common malignant tumors in the female reproductive system,and its incidence is third only to cervical cancer and endometrial cancer.High-grade serous ovarian cancer is the most common type of ovarian epithelial cancer,with a high degree of malignancy and prone to metastasis.Most patients are advanced at the time of presentation.At present,the main treatments for ovarian cancer are surgery and chemotherapy,and some patients can benefit from targeted therapy.In this paper,we used whole exon sequencing to analyze the mutation characteristics of 12 highgrade serous ovarian cancer,and search for possible tumor suppressor genes and driver genes,laying a foundation for the develop of new targeted therapy for high-grade serous ovarian cancer.Methods: Surgical tissue was obtained from 12 patients with high-grade serous ovarian cancer.Genomic DNA was extracted from frozen tissue.The exon regions of the genome were captured using Agilent SureSelect XT Human All Exon v6.The captured exon regions were sequenced using an Illumina NovaSeq 6000.The sequencing data was filtered by BBTools.Use BWA to compare the clean data to the reference genome.Mutect2 was used to detect variations in the sample.The detected variation is annotated by ANNOVAR.VarElect was used to screen for possible tumor suppressor genes.Analyze possible driver genes and visualize the data through maftools.Results:1.Tumor suppressor gene analysisThree high-frequency mutant tumor suppressor genes were found in 12 high-grade serous ovarian cancer samples,of which TP53 was mutated in 9 samples,and BRCA1 and PTPRT were mutated in 2 samples.2.Potential driver gene analysisThirty-four potential driver genes were found in 12 high-grade serous ovarian cancer samples,distributed among seven tumor related signaling pathways.Conclusion: In this study,bioinformatics analysis was performed on WES data of 12 patients with high-grade serous ovarian cancer,and important information on tumor suppressor gene mutation was obtained.The possible driving genes were screened for high-grade serous ovarian cancer.A deeper understanding and laid the foundation for further understanding of the pathogenesis of high-grade serous ovarian cancer.Most importantly,it also provides a theoretical basis for further searching for potential therapeutic targets for high-grade serous ovarian cancer.