Breast cancer early detection biomarkers identified from ductal carcinoma in-situ patients: a bioinformatics approach

The Breast Cancer is the most prevalent cancer in the world [۱]. According to WHO (WorldHealth Organization), there were more than ۲ million women diagnosed with breast cancer and morethan ۶۰۰,۰۰۰ recorded deaths all around the world in ۲۰۲۰. Common diagnosis approaches for breastcancer like mammography have some limitations such as low sensitivity and specificity, high cost andtime-consuming procedures so new and better diagnostic methods are presented [۲, ۳]. The EventsResponsible for Transmission of normal breast tissue into cancer phase are poorly known. In this study,we aim to discover the pathways initiating breast cancer that can modify diagnosis and treatmentmethods . Four datasets (PRJNA۴۸۴۵۴۶, PRJNA۶۰۲۵۱۲, PRJNA۸۵۵۳۲۴ and PRJNA۹۵۰۳۹۲) wereselected from the NCBI SRA database. These datasets included ductal carcinoma in-situ and normalbreast samples. In order to ensure of the quality of these samples, a test was performed using FastQC.Using Trimmomatic software, appropriate changes were made on the samples to increase quality. Afterperforming Various analysis, we used UMAP Plot (Uniform manifold approximation and projection) toclassify the genes with different alterations of gene expression in order to identify the pathways relatedto breast cancer. Bioinformatic analysis on ۳۴ samples selected from ۴ datasets, showed that thepresence of conserved mutations in genes including PIK۳CA, TP۵۳ and CDH۱ in matched samples ofboth DCIS and normal tissue suggest a fitness benefit of these mutations. Studies of matchedsynchronous cases have also shown DCIS-specific mutations in selected cases. Discovering thepathways initiating breast cancer is a key goal that can modify diagnosis and treatment methods.

کلیدواژه ها:

breast cancer ، diagnosis ، RNA-sequencing