Exome sequencing in the diagnosis of breast cancer

Backgrounds: Breast cancer is one of the most common malignant tumors in the world, which ismulti-stage, and with mutation profiles of the cancer genome, new and effective targets can beidentified for diagnosis and treatment. Because their identification helps in tumor progression toeffective treatments and prognosis of the disease, they are studied using in-depth DNAsequencing. In this study, the Whole Exome sequencing method was used to diagnose breastcancer.Materials and Methods: After receiving the FASTQ file from the NCBI site, the read qualityand the removal of the adapters were checked by ۱۲۳fastq software. SNV gene identificationmethods were performed by tools such as SAM Tools, GATK HaplotypeCaller, Bcftools,FreeBayes. Then the filtering step is obtained, which follows the call step of different types inVCF format. The next step was to implement annotation tools such as MutationTaster, CADD,FATHMM, and GERP ++. Therefore, filtering was done with Exact, InterVar, ClinVar, HGV,COSMIC, ۱۰۰۰ Genomes, nomad, DAVID databases.Results: SNV / Indel vulnerability prediction that this step can have a significant impact on theconclusion. It was performed with the introduced tools and then the ensemble and Varsom siteswere used to confirm the pathogenic mutation.Conclusion: Next-generation sequencing technologies (NGS) have many advantages overSanger sequencing or use in drug discovery for the treatment and prognosis of various cancerswith reduced cost and increased efficiency, and the rapid advancement of targeted therapieshighlights the need for more complex cancers and allows physicians to identify specific stimulusevents and disease-causing mutations in individual tumors. It enables physicians to better predicttreatment responses and significantly improve patient care. This study focuses on the applicationof the Whole Exome sequencing in breast cancer.

کلیدواژه ها:

Breast Cancer ، Germline Mutation ، Diagnosis ، Whole-exome sequencing ، database