Genomic analysis of SNPs in breast cancer by using bioinformatics databases

Abstract

The role of single nucleotide polymorphs (SNPs) in genes that modulate or promote cancer process has not been fully understood. Hence, an attempt has been made to collect data from Entrez Genome View, Cancer Genome Anatomy Project (NCBI) and Online Mendelian Inheritance in Man (OMIM) databases for enumerating and locating the number of SNPs in the loci of various chromosomes involved in cancerous and non-cancerous breast tissue. DNA methylation and mutations in the hotspots of the proto-oncogenes leading to formation of carcinomas in the breast tissue have been identified and discussed. Transition in the hotspots may reflect endogenous mutations and sporadic loss of DNA repair factors. This has been related to various molecular mechanisms and gene expression variations. SNPs also play important roles in conformational changes in proteins, resulting in non-functional or truncated proteins at the post-translational levels. Although SNPs in introns may not directly result in a change in function of a gene, they may be taken as biomarkers to locate the site near genes. SNPs technology has enormous potential in clinical research and pharmacogenomics. Hence, effort has been to understand the basic difference between candidate and validated SNPs and their significance in carcinogenesis or predisposition.