Exploring pathogenic SNPs and estrogen receptor alpha interactions in breast cancer: An in silico approach.

ABSTRACT: The estrogen receptor 1 gene (ESR1) plays a crucial role in breast and mammary development in humans. Alterations such as gene amplification, genomic rearrangements, and missense mutations in the ESR1 gene are reported to increase the risk of breast cancer in humans. The purpose of this study is to analyze the missense mutations and molecular modeling of ESR1, focusing on the pathogenic SNP H516N, for a better understanding of disease risk and future benefits for therapeutic benefits. This SNP was selected based on its location in the binding pocket of ESR1 and its predicted impact on drug binding. The in silico analysis was performed by applying various computational approaches to identify highly pathogenic SNPs in the binding pocket of ESR1. The effect of the

SUBMITTER: Alamri AM 

PROVIDER: S-EPMC11403482 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature