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Abstract

Background

Lung cancer remains the leading cause of cancer-related mortality. Determining the T790M resistance variants and epidermal growth factor receptor (EGFR) mutations is crucial for personalized treatment, especially when using targeted therapies.

Objective

This review article aims to comprehensively compare some of the various diagnostic techniques associated with liquid biopsies, such as cell-free DNA (cfDNA) for T790M and EGFR mutant identification. It also aims to evaluate their pertinence in clinical settings, as well as their sensitivity and specificity to determine how effectively they monitor treatment response and resistance.

Methods

A literature search was conducted using databases including PubMed, Scopus, and Web of Science. The keyword list included “EGFR mutations,” “T790M resistance,” “liquid biopsy,” “COLD PCR,” “NGS,” “ddPCR,” “BEAMing,” and other methods. The effect of these studies on diagnostic technologies for identifying EGFR mutations was assessed in terms of clinical practice, methodological accuracy, and significance. Sensitivity, specificity, clinical applicability, cost analysis, turnaround times, and ease of integration into clinical workflows were used as parameters for evaluation based on the literature.

Results

There are advantages and disadvantages to cfDNA monitoring strategies for treatment response and resistance, as well as to the assessment of sensitivity, specificity, and clinical applicability for identifying EGFR mutations.

Conclusion

Advanced techniques such as COLD-PCR, LC-MS, qPCR, NGS sequencing, Sanger sequencing, PNA microarrays, the Allele-Specific Competitive Extension (ASCE) real-time PCR assay, and nanopore technology are necessary for personalized lung cancer management. However, depending on the objective of the work, the suitable method should be selected based on its benefits and drawbacks.

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2025-07-08
2025-10-16

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A Comparative Review of Methods for Detecting Epidermal Growth Factor Receptor Mutations in Cell-free DNA from Lung Cancer Patients
Bentham Science Publishers ; https://doi.org/10.2174/0115665240374769250703232841
/content/journals/cmm/10.2174/0115665240374769250703232841
/content/journals/cmm/10.2174/0115665240374769250703232841
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  • Article Type:     Review Article
Keywords: Lung cancer ; T790M resistance ; mutation detection ; cfDNA ; EGFR mutations ; liquid biopsy

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