Non small cell lung cancer (NSCLC) is one of the most common cancers worldwide.
Pulmonary malignancies are the leading cause of death in both men and women. The
epidermal growth factor receptor (EGFR) is a tyrosine protein kinase. Activation of the
downstream pathways of EGFR leads to cell proliferation, differentiation, migration/
motility, adhesion, protection from apoptosis, enhanced survival and gene transcription.
A large body of experimental and clinical work supports the view that EGFR is a
relevant target for cancer therapy. Gefitinib (Iressa) and Erlotinib (Tarceva) are utilized
for the treatment of refractory NSCLC due to the impressive response seen in about
10-15% of patients. Several recent publications reported that virtually all responders
have a somatic mutation at a mutational "hotspot" within the kinase domain of the
EGFR gene (Exons 18-21).
The City of Hope Molecular Diagnostic Laboratory (MDL) was the first to
introduce clinical testing for EGFR mutations (July 2004) for patients with lung cancer1.
In an effort to facilitate the identification of structure/function and genotype/phenotype
relationships,we created this EGFR Mutation Database website to provide a
convenient listing of EGFR sequence variants reported in the scientific literature and
their reported association with drug response. The papers with EGFR mutations are
identified by searching NCBI PubMed quarterly. The mutations