The purpose of this study is to evaluate the association between intron 1 CA-repeat polymorphisms of the epidermal growth factor receptor gene (EGFR) and the clinical outcome of Chinese patients with advanced non-small cell lung cancer (NSCLC) treated with EGFR tyrosine kinase inhibitors (TKIs). We genotyped the intron 1 CA-repeat genetic polymorphisms of EGFR in 84 Chinese patients with NSCLC. The relationship between the length of the CA repeats and EGFR mutations in exons 18-21 in the 84 patients was elucidated. We then analyzed the association between the length of the CA repeats and the clinical outcome of EGFR-TKI-treated patients with NSCLC. EGFR mutations in exon 19 were significantly associated with shorter CA repeats. Patients with shorter CA repeats had a significantly longer progression-free survival with EGFR-TKI treatment than those with longer CA repeats. Our results suggest that shorter CA repeats in intron 1 of EGFR are associated with EGFR mutations and the clinical outcomes of TKI-treated patients with NSCLC.
Keywords: Advanced non-small cell lung cancer; CA repeat; Epidermal growth factor receptor; Intron 1; Tyrosine kinase inhibitors.