• Evaluation of Phenotype-Associated Polymorphisms in Breast Cancer and Colon Cancer Profiles in the Iranian Population, Along with an Assessment of Chemotherapy Drug Adverse Effects
  • Majid MesgarTehranni,1 Mana Mandegari,2,* Reza Mirlohi,3 Mohammad Mahdi Eslami,4
    1. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences, Tehran, Iran
    3. Member of the Bioinformatics Research Group, Nasim Research Institute, Tehran, Iran
    4. Member of the Bioinformatics Research Group, Nasim Research Institute, Tehran, Iran


  • Introduction: The aim of this study was to identify key single-nucleotide polymorphisms involved in breast cancer and their involvement in the side effects of the breast cancer drugs.
  • Methods: We used bioinformatic tools such as the NCBI database and the Megagene pharmacogenetic software for polymorphism data analysis and detection of the genetically mediated side effects.
  • Results: BRCA1 and BRCA2 genes have the highest involvement in breast cancer, with 28.06 and 31.11 percent, respectively. More than 784 BRCA2 have been associated with breast cancer, with RS80359550 accounting for the most recorded association with breast cancer. 707 SNPs on BRCA1 have been implicated in breast cancer, with RS80357783 having the highest reported association. The ATM gene accounts for 3.53% of genes involved in breast cancer, and out of the 89 reported SNPs RS1801516 and RS189037 have the highest reported involvement. Analysis of drugs used for breast cancer treatment, their potential side effects, and the genes and specific SNPs associated with the side effects revealed major information which could be used in personalized medicine. The RS63751221 variant in MLH1 is associated with nausea and vomiting across multiple drugs. The RS741765 polymorphism on the STK11 gene has been associated with inflammation in 4 breast cancer drugs. RS2728726 in DKC1 and RS121913255 in NRAS have been linked to shortness of breath and pain in two different drugs, respectively. These side effects can reduce the compliance of patients to treatment and consequently decrease the effectiveness of the treatment in patients with those specific polymorphisms. Additionally, some polymorphisms are associated with severe adverse effects, which can be life-threatening. For instance, Endoxyna, produced by Nanoalvand in Iran, can lead to gastric adenocarcinoma in patients with the RS121964872 polymorphism in the CDH1 gene. Similarly, patients with RS121913530 mutation in KRAS gene have an increased risk of developing squamous cell lung carcinoma after being treated with Paclitaxel.
  • Conclusion: Therefore, screening breast cancer patients for these specific polymorphisms allows physicians to tailor the treatment to the specific genetic profile of the patient and improve the safety and effectiveness of the treatment.
  • Keywords: Breast Cancer, pharmacogenomics, SNP, Bioinformatics, Personalized medicine