• Identification of SNPs in Data Related to Folic Acid Metabolism (MTHFR and DHFR Genes) and Their Association with Breast Cancer Risk in the Iranian Population and Other Countries
  • Ghazaleh Eslamian,1 Fateme Khaligh,2,* Majid Mesgar Tehrani,3 Dariush Norouzian,4
    1. Faculty of Nutrition and Food Technology Shahid Beheshti University of Medical Sciences
    2. Tehran Islamic Azad University of Medical Sciences
    3. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences, Tehran, Iran


  • Introduction: Breast cancer is the second most common malignancy worldwide after lung cancer, particularly among women. Considering the crucial role of folate metabolism in DNA methylation and genomic stability, this study aimed to investigate the polymorphisms associated with this pathway and provide a novel perspective on the risk of breast cancer across different populations, including the Iranian population.
  • Methods: To analyze genetic data related to polymorphisms and identify genetically based adverse effects, data were retrieved from the NCBI database and processed through bioinformatic evaluations using the pharmacogenetic software MegaGen.
  • Results: Genetic testing was performed on patients to assess the presence of polymorphisms in three common genes: BRCA1, BRCA2, and EGFR. The genetic findings revealed that three common polymorphisms—rs11571746 in BRCA2, rs80357446 in BRCA1, and rs763317 in EGFR— showed the strongest association with the studied patients
  • Conclusion: The findings indicated that these three polymorphisms have the highest correlation with breast cancer risk. This evidence may contribute to identifying susceptible individuals and developing personalized preventive and therapeutic strategies in various populations, including Iranian women
  • Keywords: Breast Cancer; Genetic Polymorphism; Folate Metabolism; BRCA1; BRCA2