ASSOCIATION OF VEGFA RS699947 POLYMORPHISM WITH BREAST CANCER: A CASE-CONTROL AND IN-SILICO FUNCTIONAL STUDY

Abstract

Breast cancer (BC) is a leading cause of morbidity and mortality among women globally, with genetic factors playing a significant role in its progression. This study aims to assess the association of VEGFA rs699947 polymorphism with BC risk in a Pakistani population through a case-control design. The objectives are to identify any genotypic and allelic associations, perform functional analysis, and validate findings using in-silico tools. DNA from 100 women (50 BC cases, 50 controls) is analyzed for VEGFA rs699947 polymorphism using TETRA-ARMS PCR, and statistical tests are employed to evaluate associations. The study finds no significant association between rs699947 and BC risk, though functional analysis indicated a minor regulatory role. These findings suggest limited genetic influence but provide insight into the SNP's functionality, emphasizing the need for further research. The study highlights potential therapeutic value of natural compounds, such as Quercetin and Apigenin, inhibiting VEGFA. The novelty of this study lies in its first examination of this polymorphism in a Pakistani cohort and its integration of in-silico analysis for validation.