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

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.