• Genetic Polymorphisms and Pharmacogenetics in Lung Cancer: Implications for Disease Susceptibility and Adverse Drug Reactions
  • Majid Mesgar Tehrani,1,* Narges Darvish Narenjbon,2 Mohammadmehdi Eslami,3 Reza Mirlohi,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: Lung cancer is a major global health challenge influenced by various genetic factors that affect both disease development and responses to therapy. Understanding these genetic influences is crucial for developing more effective diagnostic and treatment strategies.
  • Methods: This study employed data from the NCBI public genetic databases alongside advanced pharmacogenetic software, Megagene, to analyze single-nucleotide polymorphisms (SNPs) in genes commonly implicated in lung cancer. Genetic polymorphisms and their associations with disease susceptibility and adverse drug reactions were systematically examined. Using these tools, we evaluated citation data and population statistics to identify significant variants and explore their impact on drug side effects, with a focus on personalized medicine.
  • Results: Our analysis identified three prevalent polymorphisms significantly associated with lung cancer risk: rs2010963 in VEGFA, rs699947 in VEGFA, and rs1625895 in TP53, which showed significant association with lung cancer risk across the examined patient populations. These polymorphisms demonstrated elevated allele frequencies in lung cancer cohorts compared to controls. Pharmacogenetic analysis further highlighted the role of genetic variability in influencing adverse drug reactions. Specifically, rs121912288 of DKC1 is related to hair loss in patients prescribed medications such as Onkotaxel or Oncozar, and the VEGFA rs2010963 and rs1570360 variants were linked to increased medication-related osteonecrosis and hypertension, respectively, in patients under treatment with Stivant.
  • Conclusion: Based on these results, genetic testing for common lung cancer-associated polymorphisms should be conducted before treatment initiation and also for assessing disease susceptibility. Pre-therapy screening can help in selecting drugs with a lower risk of adverse effects tailored to the patient’s genetic profile. Integrating pharmacogenetic testing into clinical practice supports precision medicine by enhancing treatment efficacy while minimizing harmful side effects, ultimately improving patient prognosis and quality of life.
  • Keywords: genetic polymorphisms, pharmacogenetics, adverse drug reactions, disease susceptibility