Analytic performance studies and clinical reproducibility of a real-time PCR assay for the detection of epidermal growth factor receptor gene mutations in formalin-fixed paraffin-embedded tissue specimens of non-small cell lung cancer

Background Epidermal growth factor receptor (EGFR) gene mutations identify patients withnon-small cell lung cancer (NSCLC) who have a high likelihood of benefitingfrom treatment with anti-EGFR tyrosine kinase inhibitors. Sanger sequencingis widely used for mutation detection but can be technically challenging,resulting in longer turn-around-time, with limited sensitivity for lowlevels of mutations. This manuscript details the technical performanceverification studies and external clinical reproducibility studies of thecobas EGFR Mutation Test, a rapid multiplex real-time PCR assay designed todetect 41 mutations in exons 18, 19, 20 and 21.