EGFRvIII

The epidermal growth factor receptor (EGFR; ErbB-1; HER1 in humans) is the cell-surface receptor for members of the epidermal growth factor family (EGF-family) of extracellular protein ligands. The epidermal growth factor receptor is a member of the ErbB family of receptors, a subfamily of four closely related receptor tyrosine kinases: EGFR (ErbB-1), HER2/c-neu (ErbB-2), Her 3 (ErbB-3) and Her 4 (ErbB-4). Mutations affecting EGFR expression or activity could result in cancer.
The type III EGF deletion-mutant receptor (EGFRvIII) is the most common mutation and was first identified in primary human glioblastoma tumors; EGFR gene amplification is correlated with the structural rearrangement of the gene. The EGFRvIII gene has an in-frame deletion of 801 base pairs, corresponding to exons 2–7 in the mRNA, resulting in the deletion of amino acids 30-297 in the extracellular domain and the generation of a glycine at the fusion point