| خلاصه مقاله | The Breast Cancer is the most prevalent cancer in the world [1]. According to WHO (World
Health Organization), there were more than 2 million women diagnosed with breast cancer and more
than 600,000 recorded deaths all around the world in 2020. Common diagnosis approaches for breast
cancer like mammography have some limitations such as low sensitivity and specificity, high cost and
time-consuming procedures so new and better diagnostic methods are presented [2, 3]. The Events
Responsible 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 treatment
methods. Four datasets (PRJNA484546, PRJNA602512, PRJNA855324 and PRJNA950392) were
selected from the NCBI SRA database. These datasets included ductal carcinoma in-situ and normal
breast 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. After
performing Various analysis, we used UMAP Plot (Uniform manifold approximation and projection) to
classify the genes with different alterations of gene expression in order to identify the pathways related
to breast cancer. Bioinformatic analysis on 34 samples selected from 4 datasets, showed that the
presence of conserved mutations in genes including PIK3CA, TP53 and CDH1 in matched samples of
both DCIS and normal tissue suggest a fitness benefit of these mutations. Studies of matched
synchronous cases have also shown DCIS-specific mutations in selected cases. Discovering the
pathways initiating breast cancer is a key goal that can modify diagnosis and treatment methods. |