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Background <p>Genetic factors influence non-small cell lung cancer (NSCLC) development, progression and treatment response. Epidermal growth factor receptor (EGFR) variants, particularly single nucleotide polymorphisms (SNPs), were linked to clinical outcomes in NSCLC. The general objective of this study was to examine frequencies of -191&#xa0;C/A and − 216G/T <i>EGFR</i> SNPs, <i>EGFR</i> mutation profiles and their associations among gender, age, and smoking status.</p> Patients and Methods <p>A cohort of 211 NSCLC patients (131 males and 80 females) from the Republic of Serbia was analyzed. PCR-RFLP genotyping was used for <i>EGFR</i> SNPs, and real-time PCR for detection of <i>EGFR</i> mutations. Cramér’s V statistic, Chi-square tests, and binary logistic regression, were employed to explore the associations between <i>EGFR</i> SNPs, <i>EGFR</i> mutation status, and demographic factors. Data were analyzed using SPSS-27 software (SPSS, Inc.) and R software (version 4.3.2).</p> Results <p>Statistical significance with moderate associations was found between smoking status and <i>EGFR</i> mutation status. A significant correlation was also observed between smoking and the − 216GG genotype (<i>p</i> = 0.016). Notably, male smokers with <i>EGFR</i> wild-type status and female non-smokers with <i>EGFR</i> mutations showed the highest frequencies of the − 216GG genotype. Binary logistic regression confirmed that the − 216G/T (<i>p</i> = 0.049) and smoking status (<i>p</i> ≤ 0.001) were significantly associated with the presence of <i>EGFR</i> mutations in females.</p> Conclusion <p>The − 216G/T SNP and smoking status may serve as potential predictors for <i>EGFR</i> mutation status in NSCLC patients. Further studies are warranted to confirm these associations and assess their implications for personalized treatment approach.</p> Graphical Abstract <p></p>

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Investigating the frequencies of EGFR mutations and EGFR single nucleotide polymorphisms genotypes and their predictive role in NSCLC patients in Republic of Serbia

  • 期刊论文

  • 发表日期：

    2025年4月1日

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  • Jasmina Obradović,
  • Jelena Niševic-Lazović,
  • Vanesa Sekeruš,
  • Jelena Milašin,
  • Branislav Perin,
  • Vladimir Jurisic

摘要

Background

Genetic factors influence non-small cell lung cancer (NSCLC) development, progression and treatment response. Epidermal growth factor receptor (EGFR) variants, particularly single nucleotide polymorphisms (SNPs), were linked to clinical outcomes in NSCLC. The general objective of this study was to examine frequencies of -191 C/A and − 216G/T EGFR SNPs, EGFR mutation profiles and their associations among gender, age, and smoking status.

Patients and Methods

A cohort of 211 NSCLC patients (131 males and 80 females) from the Republic of Serbia was analyzed. PCR-RFLP genotyping was used for EGFR SNPs, and real-time PCR for detection of EGFR mutations. Cramér’s V statistic, Chi-square tests, and binary logistic regression, were employed to explore the associations between EGFR SNPs, EGFR mutation status, and demographic factors. Data were analyzed using SPSS-27 software (SPSS, Inc.) and R software (version 4.3.2).

Results

Statistical significance with moderate associations was found between smoking status and EGFR mutation status. A significant correlation was also observed between smoking and the − 216GG genotype (p = 0.016). Notably, male smokers with EGFR wild-type status and female non-smokers with EGFR mutations showed the highest frequencies of the − 216GG genotype. Binary logistic regression confirmed that the − 216G/T (p = 0.049) and smoking status (p ≤ 0.001) were significantly associated with the presence of EGFR mutations in females.

Conclusion

The − 216G/T SNP and smoking status may serve as potential predictors for EGFR mutation status in NSCLC patients. Further studies are warranted to confirm these associations and assess their implications for personalized treatment approach.

Graphical Abstract