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Updated: Feb 7, 2026

Studying the Stoichiometry of Epidermal Growth Factor Receptor in Intact Cells using Correlative Microscopy
Published on: September 11, 2015
Correlation of E-cadherin gene polymorphisms and epidermal growth factor receptor mutation in lung adenocarcinoma
Chun-Yao Huang1,2, Ming-Ju Hsieh1,3,4, Tu-Chen Liu1,5
1Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Abstract:
Epithelial-mesenchymal transition (EMT) was recently discovered related to the efficacy of epidermal growth factor receptor-tyrosine kinase inhibitors (EGFR-TKIs) in NSCLC patients and cell lines. In this study, we aimed to explore the association among the E-cadherin gene (CDH1) genetic variants, TK-domain mutations of EGFR, and clinicopathologic characteristics in patients with lung adenocarcinoma. A total of 280 patients with lung adenocarcinoma were recruited between years 2012 and 2015. All subjects underwent the analysis of CDH1 genetic variants (rs16260 and rs9929218) by real-time polymerase chain reaction (PCR) genotyping. The results showed that CA and CA + AA genotypes of CDH1 single nucleotide polymorphism (SNP) rs16260 were significantly reverse associated with EGFR mutation type (Adjusted odds ratio (AOR) = 0.43, 95% CI = 0.20-0.92 and AOR = 0.46, 95% CI = 0.22-0.96, respectively) in female lung adenocarcinoma patients. Moreover, the significantly reverse associations between CA and CA + AA genotypes of CDH1 rs16260 and EGFR hotspot mutations, namely L858R mutation and exon 19 in-frame deletion, were also demonstrated among female patients. Besides, CA + AA genotype of CDH1 rs16260 was noted significantly reverse associated with the tumor sizes (OR = 0.31, 95% CI = 0.12-0.80; p = 0.012). In conclusion, our results suggested that CDH1 variants are significantly reverse associated with mutation of EGFR tyrosine kinase, especially among the female patients with lung adenocarcinoma. The CDH1 variants might contribute to pathological development in lung adenocarcinoma.
Insights
Genetic variants in the E-cadherin gene (CDH1) show a significant inverse association with epidermal growth factor receptor (EGFR) mutations in female lung adenocarcinoma patients. These CDH1 variants may influence disease development.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Epithelial-mesenchymal transition (EMT) is linked to epidermal growth factor receptor-tyrosine kinase inhibitor (EGFR-TKI) efficacy in non-small cell lung cancer (NSCLC).
- The E-cadherin gene (CDH1) plays a role in cell adhesion and is implicated in cancer progression.
- Understanding the interplay between CDH1 genetic variants and EGFR mutations is crucial for lung adenocarcinoma treatment.
Purpose of the Study:
- To investigate the association between CDH1 genetic variants (rs16260 and rs9929218) and TK-domain mutations of EGFR.
- To explore the relationship between CDH1 variants, EGFR mutations, and clinicopathologic characteristics in lung adenocarcinoma patients.
- To determine if CDH1 variants influence the development of lung adenocarcinoma, particularly in relation to EGFR mutations.
Main Methods:
- A cohort of 280 lung adenocarcinoma patients was analyzed.
- CDH1 genetic variants (rs16260 and rs9929218) were genotyped using real-time polymerase chain reaction (PCR).
- Statistical analysis was performed to assess associations between genotypes, EGFR mutations, and clinicopathologic features.
Main Results:
- CDH1 rs16260 genotypes (CA and CA + AA) were significantly inversely associated with EGFR mutation type in female patients.
- These CDH1 variants showed a reverse association with specific EGFR hotspot mutations (L858R and exon 19 deletion) in females.
- The CDH1 rs16260 CA + AA genotype was significantly inversely associated with tumor size in lung adenocarcinoma patients.
Conclusions:
- CDH1 genetic variants are significantly inversely associated with EGFR tyrosine kinase mutations, particularly in female lung adenocarcinoma patients.
- These findings suggest that CDH1 variants may play a role in the pathological development of lung adenocarcinoma.
- Further research is warranted to elucidate the precise mechanisms by which CDH1 variants influence lung adenocarcinoma and EGFR mutation status.
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