• Analysis of the Association of Genetic and Epigenetic Polymorphisms in Sarcoma Cancer
  • Dr. Ghazaleh Eslamian,1 Zahra Pourisaotaghvary,2,* Dr. Majid MesgarTehrani,3 Dr. Dariush Norouzian,4
    1. Assistant Professor Faculty of Nutrition and Food Technology Shahid Beheshti University of Medical Sciences Tehran, Iran
    2. University of Tehran
    3. Member of the Core Committee of the National Genomics Hub, Shahid Beheshti University of Medical Sciences


  • Introduction: Sarcomas are among the rarest cancers, constituting only a small fraction of malignancies in adults, yet they account for a relatively higher proportion of childhood cancers (~15%). They are broadly classified into bone sarcomas (such as osteosarcoma and Ewing sarcoma) and soft tissue sarcomas, exhibiting high molecular and histological diversity. Despite advances in therapy, survival rates particularly in metastatic or relapsed cases remain poor.
  • Methods: Data for this study were obtained from NCBI database. The pharmacogenetic software MegaGene was used to analyze polymorphism data and assess potential genetically based adverse effects.
  • Results: In this study, a total of 11,929 genes were evaluated, leading to the identification of 18 genes with the most significant influence on sarcoma development. Among these, SDHD, EWSR1, and CDKN2B-AS1 demonstrated the strongest potential roles in the pathogenesis of sarcoma. Furthermore, three polymorphisms (rs10631992, rs34677591, and rs2518683) were identified as prominent variants, showing significant associations with an increased risk of developing sarcoma. These findings highlight the predictive value of these genes and polymorphisms within molecular pathways relevant to sarcoma, providing a basis for future investigations into genetic biomarkers for early diagnosis and therapeutic targeting.
  • Conclusion: Our findings suggest that genetic testing for common polymorphisms, such as rs10631992, rs34677591, and rs2518683, may offer clinical value in identifying individuals at increased risk for sarcoma. Incorporating these markers into routine genetic screening could facilitate earlier diagnosis, improve risk stratification, and inform more targeted clinical management. Ultimately, integration of such genetic insights may contribute to the development of personalized therapeutic strategies and improved patient outcomes.
  • Keywords: SNP; meta-analysis; polymorphisms; cancer; sarcoma.