EGFR
Epidermal growth factor receptor
1956
-
ERBB, ERBB1, HER1, NISBD2, PIG61, mENA
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer.
The main pathways: Schematic of EGFR signaling pathway. Growth factor binding to EGFR results in activation of the MAPK signaling pathway (RAS-RAF-MEK-ERK) and the PI3K pathway (PI3K-AKT-mTOR). The letter "K" within the schema denotes the tyrosine kinase domain.
Mutations that lead to EGFR overexpression (known as upregulation)/amplification have been associated with a number of cancers, including squamous-cell carcinoma of the lung (80% of cases), anal cancers, glioblastoma (50%) and epithelian tumors of the head and neck (80-100%). These somatic mutations involving EGFR lead to its constant activation, which produces uncontrolled cell division. In glioblastoma a more or less specific mutation of EGFR, called EGFRvIII is often observed. Mutations, amplifications or misregulations of EGFR or family members are implicated in about 30% of all epithelial cancers.
Gene | cDNA change | Protein change | Location |
---|---|---|---|
EGFR | - | p.G719X | Chromosome 7 |
EGFR | - | p.L858R | Chromosome 7 |
EGFR | - | p.L861Q | Chromosome 7 |
EGFR | - | p.S781I | Chromosome 7 |
EGFR | - | p.T790M | Chromosome 7 |
Drug name | Other name | Product name | Type | Groups |
---|---|---|---|---|
Afatinib | - | Gilotrif | Small Molecule | Approved |
Cetuximab | DB00002 | Erbitux | Small Molecule | Approved |
Erlotinib | - | Tarceva | Small Molecule | Approved |
Gefitinib | ZD1839 | Iressa | Small Molecule | Approved |
Osimertinib | - | Tagrisso | Small Molecule | Approved |