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The - 216G/T polymorphism in the EGFR gene: A review focusing on Non-Small lung cancer
Jasmina Obradovic1, Vladimir Jurisic2
1Department of Sciences, Institute for Information Technologies Kragujevac, University of Kragujevac, Kragujevac, Serbia. jasmina.obradovic@uni.kg.ac.rs.
Abstract:
The epidermal growth factor receptor (EGFR) is a key regulator of cell proliferation and a well-established therapeutic target in non-small-cell lung cancer (NSCLC). Somatic mutations in the EGFR gene have been widely studied in the context of tyrosine kinase inhibitors (TKIs), but germline polymorphisms as potentially predictive biomarkers have emerged as a variants of interest over the years. Among these, the - 216G/T (rs712829) single nucleotide polymorphism (SNP), located in the EGFR promoter region, is gaining attention for its potential clinical relevance. This narrative review aims to provide a comprehensive chronological overview of the discovery, functional implications, clinical relevance, and broader oncological and non-oncological associations of the EGFR - 216G/T SNP. Relevant studies were identified from 2005 to 2025 through literature searches across publicly available databases and bibliographies of key publications. This SNP was associated to increased EGFR promotor activity, pleural metastasis, susceptibility to EGFR mutations, NSCLC risk, and different inter-individual and inter-ethnic allele frequencies. Conflicting findings regarding survival outcomes and toxicity underscore the need for further validation. Beyond NSCLC, this SNP has demonstrated relevance in colorectal cancer, glioma, breast cancer, cardiovascular disease, and even COVID-19 susceptibility. The - 216G/T polymorphism represents a promising germline biomarker for NSCLC susceptibility. However, population-specific studies and investigations integrating multi-omics data, along with machine learning models are essential to clarify its utility in precision oncology.
Insights
The EGFR -216G/T polymorphism may predict non-small-cell lung cancer (NSCLC) risk and EGFR mutations. Further research is needed to validate its role in precision oncology and diverse health conditions.
Area of Science:
- Genetics and Genomics
- Oncology
- Molecular Biology
Background:
- Epidermal growth factor receptor (EGFR) is crucial for cell growth and a target in non-small-cell lung cancer (NSCLC).
- Germline polymorphisms in EGFR, particularly the -216G/T SNP (rs712829) in the promoter region, are gaining attention as predictive biomarkers.
- Understanding these germline variants is vital for personalized cancer treatment strategies.
Purpose of the Study:
- To provide a chronological overview of the EGFR -216G/T SNP, including its discovery, functional effects, and clinical relevance.
- To explore the associations of this SNP with NSCLC risk, progression, and treatment outcomes.
- To review the SNP's role in other cancers and non-oncological conditions.
Main Methods:
- A narrative review of studies published between 2005 and 2025.
- Literature searches across scientific databases and bibliographies of key publications.
- Analysis of functional, clinical, and epidemiological data related to the EGFR -216G/T SNP.
Main Results:
- The EGFR -216G/T SNP is linked to increased EGFR promoter activity, pleural metastasis, and susceptibility to EGFR mutations.
- This polymorphism is associated with NSCLC risk and shows varying allele frequencies across different populations.
- Conflicting data exist regarding its impact on survival and toxicity, necessitating further investigation.
Conclusions:
- The EGFR -216G/T polymorphism shows promise as a biomarker for NSCLC susceptibility.
- Its relevance extends to other cancers (colorectal, glioma, breast) and conditions like cardiovascular disease and COVID-19.
- Population-specific studies integrating multi-omics and machine learning are crucial for its application in precision oncology.
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