Frequency of and variables associated with the EGFR mutation and its subtypes

Int J Cancer. 2010 Feb 1;126(3):651-5. doi: 10.1002/ijc.24746.


Mutation in the epidermal growth factor receptor (EGFR) is frequently seen in non-small cell lung cancers (NSCLCs), especially in Asian females with adenocarcinoma. The frequency of mutation and the factors associated requires to be elucidated by analyzing a large number of consecutive clinical samples. We summarized the result of the EGFR mutation analysis for 1,176 patients performed at the time of diagnosis or relapse. The PNA-LNA PCR clamp, a highly sensitive detection method for the EGFR mutation, was employed. For fresh cases a portion of samples isolated to establish the diagnosis of lung cancer was used. For cases with a relapsed disease archival tissue were tested. The variables associated with the EGFR mutation after removing the confound factors were investigated by the logistic analysis using the samples collected in our university (n = 308) where detailed information on patients were available. The frequency of the EGFR mutation and its subtypes were investigated using all samples (n = 1,176). The EGFR mutation was significantly associated with adenocarcinoma (p = 0.006) and light-smoking (p < 0.0001), but not gender. The deletions in exon 19 were more frequently associated with male gender while exon 21 deletions were with female gender (p = 0.0011). The overall frequency of the EGFR mutation was 31%. Our result suggests that the female predominance in the EGFR mutation rate is a reflection of a higher frequency of adenocarcinoma in females. The gender difference in the mutation subtypes may provide a clue for the mechanism of the occurrence of the EGFR mutation.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / diagnosis
  • Adenocarcinoma / epidemiology
  • Adenocarcinoma / genetics
  • Adult
  • Aged
  • Carcinoma, Non-Small-Cell Lung / epidemiology
  • Carcinoma, Non-Small-Cell Lung / genetics*
  • Carcinoma, Squamous Cell / diagnosis
  • Carcinoma, Squamous Cell / epidemiology
  • Carcinoma, Squamous Cell / genetics
  • DNA Mutational Analysis*
  • DNA, Neoplasm / genetics
  • Exons / genetics
  • Female
  • Gene Frequency
  • Genes, erbB-1*
  • Humans
  • Japan / epidemiology
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / epidemiology
  • Lung Neoplasms / genetics*
  • Male
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Point Mutation
  • Polymerase Chain Reaction / methods
  • Sequence Deletion
  • Sex Factors
  • Smoking / genetics


  • DNA, Neoplasm
  • Neoplasm Proteins