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Advanced Technical IVT

EGFR mutation

Also written as: EGFR — Epidermal Growth Factor Receptor

Genetic alterations in the epidermal growth factor receptor gene, commonly found in lung adenocarcinoma and targetable with specific therapies.

Full Definition

EGFR mutations are genetic alterations in the epidermal growth factor receptor gene that drive tumor growth in certain cancers, particularly non-small cell lung cancer. The most common mutations include exon 19 deletions and L858R point mutations in exon 21. These mutations predict sensitivity to EGFR tyrosine kinase inhibitors such as erlotinib, gefitinib, and osimertinib. Testing for EGFR mutations has become standard practice in lung cancer to guide treatment selection.

Usage

Usage note: Distinguish from EGFR amplification or overexpression which have different therapeutic implications.

In Context

  • "Molecular testing revealed an EGFR mutation making the patient eligible for targeted therapy." — pathology report
  • "The tumor harbored an EGFR exon 19 deletion mutation." — genetic testing report

Also known as

EGFR alteration epidermal growth factor receptor mutation

Contrasted with

EGFR wild-type

Don't confuse with

EGFR amplification EGFR overexpression

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