Genetic signatures of lung cancer: association and biomarker potential of EGFR, KRAS, and HER2 polymorphisms.

BACKGROUND AND

OBJECTIVE

Lung cancer is a key global health challenge. Genetic variations in the key oncogenic pathways, including EGFR, HER2, and KRAS, can contribute to personal susceptibility and disease progression. The objective of this study was to assess the association between single-nucleotide polymorphisms (SNPs) in candidate genes, including KRAS, HER2, and EGFR, and lung cancer risk in the Pakistani population.

METHODOLOGY: The case-control study comprised 600 participants, including 300 patients with histologically verified lung cancer and 300 healthy controls. DNA was extracted, followed by ARMS-PCR for genotyping.

RESULTS

Genetic research revealed a strong correlation between EGFR (rs712829) and lung cancer risk. The mutant (TT) genotype had a protective effect (OR = 0.11; 95% CI = 0.07-0.17; p < 0.0001), whereas the mutant (GT) significantly increased the risk (OR = 3.27; 95%CI = 2.32-4.60; p < 0.0001). The polymorphisms of the other two genes, HER2 and KRAS, did not show any significant association with disease. All demographic parameters, including age, gender, and smoking, did not show any significant association in our studied population.

CONCLUSIONS

This study determined that polymorphisms in the EGFR and KRAS genes were found to be significantly associated with lung cancer risk, whereas HER2 variations were found to have a potential protective role.