• Evaluation of common Breast cancer polymorphisms in women under 40 years and assessment of targeted therapy pathways with lower drug side effects
  • Majid Tehrani,1,* Seyedeh Shima Jalilimagham,2 Mohammad Mahdi Eslami,3 Reza Mirlohi,4
    1. National center for Genomic Excellence
    3. National center for Genomic Excellence
    4. National center for Genomic Excellence


  • Introduction: Breast cancer susceptibility is influenced by multiple genetic variants, notably SNPs in key genes such as BRCA1 and BRCA2.
  • Methods: Genetic polymorphism data were retrieved from the National Center for Biotechnology Information (NCBI) databases, a comprehensive public resource for genomic information. The MegaGen platform, a specialized pharmacogenetic analysis tool, was used to evaluate polymorphism prevalence, gene-disease associations, and predict drug response and adverse effects based on genetic variants.
  • Results: Significant polymorphisms including rs80357078 and rs8176153 (BRCA1) and rs80358785 (BRCA2) were linked to disease risk. Pharmacogenetic analysis revealed associations between SNPs—such as rs121964872 (CDH1), rs741765 (STK11), rs121913255 (NRAS), and rs63751221 (MLH1)—and adverse drug reactions to agents including Endoxyna, Brescu, and Cisplatin.
  • Conclusion: Pre-therapeutic genetic testing of prevalent polymorphisms is crucial to guide personalized therapy, minimize adverse drug reactions, and improve treatment outcomes in breast cancer patients.
  • Keywords: Breast cancer, SNP, Pharmacogenetics, Adverse drug reactions,