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Epidermal growth factor receptor mutant form 8 (EGFRvIII) is a specific mutant variant of the epidermal growth factor receptor (EGFR). It results from an in-frame deletion of exons 2–7 in the extracellular domain of the EGFR gene. This deletion leads to a truncated protein lacking part of its ligand-binding domain but retaining constitutive kinase activity, causing persistent activation of downstream signaling pathways and promoting uncontrolled cell proliferation, survival, migration, and tumorigenesis. It is most commonly found in glioblastoma multiforme (GBM) and is an attractive target for cancer therapies.
Constitutive activation of downstream signaling pathways (RAS/RAF/MEK/ERK MAPK and PI3K/AKT/mTOR) due to ligand-independent kinase activity.
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