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Review Open Access

Role of genetic polymorphisms within different genes and associated risks of cancer development (Review)

  • Authors:
    • Runjhun Mathur
    • Noopur Khare
    • Gaurav Saini
    • Sheo Prasad Shukla
    • Abhimanyu Kumar Jha
  • View Affiliations / Copyright

    Affiliations: Department of Environmental Science and Engineering, Dr. A.P.J Abdul Kalam Technical University, Lucknow, Uttar Pradesh 226031, India, Department of Biotechnology Engineering and Food Technology, Chandigarh University, Chandigarh, Punjab 140413, India, Department of Civil Engineering, Netaji Subhas University of Technology, Delhi 110078, India, Department of Civil Engineering, Rajkiya Engineering College, Atarra, Uttar Pradesh 210201, India, Department of Biotechnology and Bioengineering, School of Biosciences and Technology, Galgotias University, Greater Noida, Uttar Pradesh 203201, India
    Copyright: © Mathur et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Article Number: 118
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    Published online on: October 13, 2025
       https://doi.org/10.3892/wasj.2025.406
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Abstract

Cancer susceptibility varies widely among individuals due to complex interactions between genetic and environmental factors. Among genetic determinants, polymorphisms within key genes involved in carcinogen metabolism, DNA repair, cell cycle regulation, immune response and epigenetic modification significantly influence cancer risk. The present review comprehensively discusses the role of genetic polymorphisms across diverse gene families, including cytochrome P450 enzymes (notably CYP1A1 and CYP2E1), tumor suppressors (PTEN, TP53), DNA repair genes (XPD) and immune checkpoint regulators (PD‑L1), highlighting their contributions to cancer development. Additionally, the interplay between genetic variants and epigenetic mechanisms, such as DNA methylation is discussed, emphasizing their combined effects on gene expression modulation in carcinogenesis. Advances in genotyping technologies and genome‑wide association studies have expanded the understanding of these polymorphisms, providing insight into population‑specific susceptibilities and pharmacogenomic applications. The integration of genetic and epigenetic profiling holds promise for personalized cancer prevention and therapeutic strategies, tailored to individual genetic makeup and environmental exposures. The present review underscores the importance of continued research into genetic polymorphisms as biomarkers for cancer risk assessment, providing a foundation for targeted interventions and improved public health outcomes.
View Figures

Figure 1

Diagram illustrating the associations
between the XPD protein and potential clinical diseases caused by
XPD gene mutations.

Figure 2

Schematic depiction of (A) various
risk factors associated with genetic polymorphism-induced cancer,
and (B) various health promotion approaches for the management of
genetic polymorphism-induced cancer.
View References

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Copy and paste a formatted citation
Spandidos Publications style
Mathur R, Khare N, Saini G, Shukla SP and Jha AK: Role of genetic polymorphisms within different genes and associated risks of cancer development (Review). World Acad Sci J 7: 118, 2025.
APA
Mathur, R., Khare, N., Saini, G., Shukla, S.P., & Jha, A.K. (2025). Role of genetic polymorphisms within different genes and associated risks of cancer development (Review). World Academy of Sciences Journal, 7, 118. https://doi.org/10.3892/wasj.2025.406
MLA
Mathur, R., Khare, N., Saini, G., Shukla, S. P., Jha, A. K."Role of genetic polymorphisms within different genes and associated risks of cancer development (Review)". World Academy of Sciences Journal 7.6 (2025): 118.
Chicago
Mathur, R., Khare, N., Saini, G., Shukla, S. P., Jha, A. K."Role of genetic polymorphisms within different genes and associated risks of cancer development (Review)". World Academy of Sciences Journal 7, no. 6 (2025): 118. https://doi.org/10.3892/wasj.2025.406
Copy and paste a formatted citation
x
Spandidos Publications style
Mathur R, Khare N, Saini G, Shukla SP and Jha AK: Role of genetic polymorphisms within different genes and associated risks of cancer development (Review). World Acad Sci J 7: 118, 2025.
APA
Mathur, R., Khare, N., Saini, G., Shukla, S.P., & Jha, A.K. (2025). Role of genetic polymorphisms within different genes and associated risks of cancer development (Review). World Academy of Sciences Journal, 7, 118. https://doi.org/10.3892/wasj.2025.406
MLA
Mathur, R., Khare, N., Saini, G., Shukla, S. P., Jha, A. K."Role of genetic polymorphisms within different genes and associated risks of cancer development (Review)". World Academy of Sciences Journal 7.6 (2025): 118.
Chicago
Mathur, R., Khare, N., Saini, G., Shukla, S. P., Jha, A. K."Role of genetic polymorphisms within different genes and associated risks of cancer development (Review)". World Academy of Sciences Journal 7, no. 6 (2025): 118. https://doi.org/10.3892/wasj.2025.406
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