INTERNATIONAL CONGRESS OF
CancerGenetics
Clinical Relevance of CYP3A4 Polymorphisms rs2242480 and rs55951658 as Predictive Biomarkers in Breast Cancer Risk Assessment
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Romisa Sadat Saeedi Moghadam,1,* Ahmad Hamta,2
1. Arak University
2. Arak university
- Introduction: Breast cancer remains the leading cancer among women globally. Cytochrome P450 (CYP) enzymes are essential for detoxification, drug metabolism, and hormonal regulation. Polymorphisms in CYP genes may contribute to cancer susceptibility. This study evaluated two CYP3A4 SNPs, rs2242480 and rs55951658, in relation to breast cancer risk among Iranian women.
- Methods: A case–control study including 250 breast cancer patients and 250 healthy controls was conducted. Genotyping of rs2242480 and rs55951658 was performed using PCR-RFLP and agarose gel electrophoresis. Statistical analyses were performed with SPSS v27, and bioinformatics tools were used for in silico prediction of functional effects.
- Results: Genotype distribution at rs2242480 showed a significant difference between patients and controls (P = 0.001). The AG genotype was associated with increased risk compared with GG and AA (OR = 2.250, 95% CI: 1.195–4.236, P = 0.011), while AG+AA carriers had a significantly elevated risk compared with GG (OR = 3.375, 95% CI: 1.716–6.637, P < 0.001). By contrast, rs55951658 showed no significant association (P = 0.316). However, in silico analysis suggested that this nonsynonymous SNP may reduce CYP3A4 protein stability and thus contribute biologically to cancer risk.
- Conclusion: While rs2242480 demonstrates strong potential as a clinical biomarker of breast cancer susceptibility, rs55951658 may also hold functional relevance. These findings emphasize the value of genetic biomarkers in breast cancer risk prediction and personalized medicine.
- Keywords: Breast Cancer-Single Nucleotide Polymorphism- CYP3a4- rs55951658- rs2242480
