Bioinformatics Approaches to Explore the Phylogeny and Role of BRCA1 in Breast Cancer

BRCA1 and BRCA2 are the two major vulnerability genes involved in hereditary breast cancer. BRCA1 gene programs for a tumor suppressor protein that helps in repairing DNA. The purpose of this study was to reveal the position and nature of amino acid residues involved in breast cancer, and it provides a complete characterization of BRCA1 and its evolutionary relationship with 34 selected organisms. The sequences were retrieved from NCBI, and after analyzing them in BLAST, a complete annotation of both types of genes from a human was done; in addition, a phylogenetic analysis was performed from 34 different organisms to study evolutionary relationships of BRCA1. A total of 1080 positions of genes were found in the dataset in which the first 3 were noncoding positions and the remaining were all coding regions. A tree was originated using MEGA that showed strong evolutionary relationships among three orders (Catertiodactyla, carnivore, and primates) of these organisms, which are closely related to each other. All features of wild and mutant proteins were studied by ProtParam. The location and number of alpha helices, beta sheets, coils, strands, and the binding regions, disordered regions were identified using different tools (SOPMA, PHD, and GOR4) and their percentages greatly varied. Our study revealed that the BRCA1 gene involved in cancer development had a weaker selection than those involved in sporadic cancer. Our investigation showed that in mammals, selection acting on human cancer genes drives adaptive variations in behaviors related to organismal fitness, rather than select for biological roles directly linked to cancer.