Investigating the Effect of Polymorphisms in Regulating the Expression of Genes Involved in Ovarian Cancer

Abstract

Ovarian cancer is one of the most deadly gynecological malignancies due to late-stage diagnosis and complex genetic interactions. Although BRCA1 and TP53 gene mutations are common, the effects of genetic polymorphisms on gene expression are not fully understood. Genetic variations in regulatory regions, known as single nucleotide polymorphisms (SNPs), can affect gene transcription and posttranscriptional processes, thereby influencing cancer susceptibility and progression. The current shortfall is the insufficient knowledge of how these variations affect the activation of crucial genes related to ovarian cancer, particularly in noncoding regions such as promoters, enhancers, and untranslated regions (UTRs). This research explored how regulatory variations affect the activities of genes associated with ovarian cancer, including TP53, BRCA1, and PTEN. The functional effects of SNPs on gene expression were evaluated using QTL analysis, ChIP, and reporter assays. The findings illustrated that certain variations in the TP53 promoter resulted in a 30% decrease in transcriptional activity, whereas a mutation in the 3' UTR of PTEN led to a 40% increase in mRNA stability, thereby boosting expression. These results indicate that variations in control areas significantly affect gene activity, providing a new understanding of ovarian cancer susceptibility. This study emphasizes the significance of genetic differences in cancer development and paves the way for personalized treatment approaches tailored to individual genetic profiles.