Association between genetic polymorphism and lung cancer: a comprehensive review

Abstract

Lung cancer is a complex multifactorial disease which is influenced by both genetic predisposition and environmental factors. Various single nucleotide polymorphisms in DNA repair genes (BRCA2, RAD52, ERCC1, XRCC1), tumor suppressor gene (TP63), detoxifying genes (CYP2A6, GSTM1, GSTT1), nicotinic dependence gene (CHRNA5), drug transport genes (ABCB, ABCG2), immune system regulatory gene (PD-L1), influence the lung cancer risk, development and treatment response. The purpose of this research is to incorporate the existing studies regarding the association between genetic polymorphism and lung cancer susceptibility, focusing on some key genes, gene-environmental interactions, ethnic variability and pharmacogenomics, to understand the mechanism of the disease and to improve treatment outcomes. A systematic review of relevant existing studies was conducted and information was taken from credible sources such as Google Scholar, PubMed, ScienceDirect, EMBASE, Web of Science, Scopus. Overall findings suggest that single nucleotide polymorphisms alone might have minimal effect but integration with multiple pathways, for example, gene-environment interactions and ethnic variability significantly influences lung cancer susceptibility and responses to treatment. The study of the association between genetic polymorphism and lung cancer is important to understand as it has many contributions in the healthcare sector. Combining genetic profiles, environmental factors and clinical data helps in the management of lung cancer, which ultimately, leads to increased survival rate of patients. There are some limitations to these studies, hence future research should concentrate on conducting large multi ethnic studies, refine PRS models, gene-environment interactions, functionally validate SNPs and integrate genomic biomarkers into clinical practice.