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Related Experiment Video

Updated: May 20, 2026

Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing
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Detection of Targetable Alterations in Non-small Cell Lung Cancer using Next-generation Sequencing

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Routine EGFR and KRAS Mutation analysis using COLD-PCR in non-small cell lung cancer.

A Pennycuick1, T Simpson, D Crawley

  • 1School of Medicine, King's College London, Guy's Hospital, London, UK Guy's and St Thomas' NHS Foundation Trust, London, UK.

International Journal of Clinical Practice
|July 19, 2012
PubMed
Summary

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Routine screening for EGFR and KRAS mutations in non-small cell lung cancer (NSCLC) patients reveals a high prevalence (40%) of actionable mutations, supporting its clinical utility.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Epidermal growth factor receptor (EGFR) antagonists are effective in non-small cell lung cancer (NSCLC) with EGFR mutations.
  • EGFR mutation prevalence is low in squamous histology, and KRAS mutations are associated with poor response to these therapies.
  • Routine screening for EGFR and KRAS mutations in non-squamous NSCLC guides second-line treatment selection.

Purpose of the Study:

  • To analyze the prevalence of EGFR and KRAS mutations in a consecutive cohort of 215 non-squamous NSCLC patients.
  • To evaluate the clinical utility of routine mutation screening in informing treatment decisions.
  • To investigate the occurrence of dual EGFR and KRAS mutations.

Main Methods:

  • EGFR and KRAS mutations were identified using COLD-PCR and confirmed with sequencing.

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  • Unbiased mutation analysis was employed, without prior assumptions on mutation location.
  • Clinical and demographic data were correlated with mutation status.

    • Main Results:

    • EGFR mutations were found in 14% of patients, and KRAS mutations in 27%.
    • Two cases of dual EGFR and KRAS mutations were identified, challenging conventional understanding.
    • Exon 20 EGFR mutations were identified at a higher proportion due to the unbiased analysis, with observed clinical benefit.

    Conclusions:

    • A combined prevalence of 40% for EGFR, KRAS, or dual mutations in non-squamous NSCLC supports routine screening.
    • Routine mutation screening is valuable for guiding treatment selection in NSCLC.
    • The study identified novel EGFR mutations, expanding the landscape of known genetic alterations.