EGFR是致癌基因，编码蛋白是一种受体酪氨酸激酶，是ErbB受体家族的成员，ErbB受体家族还包括受体ERBB2，ERBB3和ERBB4。EGFR（表皮生长因子受体）通过其配体（包括EGF配体和转化生长因子α（TGFα））的结合激活下游信号传导途径，包括经典MAPK和PI3K/AKT/mTOR信号通路。EGFR可以与其他ErbB家族成员同源二聚化或异二聚化以启动信号传导，EGFR介导的信号传导的激活最终导致细胞增殖，迁移和分化。EGFR通常在正常成人组织中以低水平表达，但通过体细胞突变和/或EGFR基因扩增对该受体的过度活化在许多癌症类型中发现，例如肺癌，脑癌，结肠直肠癌和头颈癌。在肺癌中，EGFR中的激活突变导致受体的组成型激活形式，并对EGFR酪氨酸激酶抑制剂敏感。

EGFR (Epidermal Growth Factor Receptor) is a transmembrane receptor that is activated by EGF family extracellular ligands. EGFR is a member of the ErbB family of receptors, including the receptors ERBB2, ERBB3, and ERBB4. Binding of EGFR by its ligands, including EGF ligands and transforming growth factor alpha (TGFα), activates downstream signaling pathways including the canonical MAPK and PI3K/AKT/mTOR signaling cascades. EGFR can homodimerize or heterodimerize with other ErbB family members to initiate signaling. Activation of EGFR-mediated signaling ultimately results in cellular proliferation, migration, and differentiation. While EGFR usually is expressed at low levels in normal adult tissues, hyperactivation of this receptor by somatic mutations and/or amplification of the EGFR gene is found in many cancer types such as lung, brain, colorectal and head and neck cancer. In lung cancer, activating mutations in EGFR result in a constitutively activated form of the receptor that is sensitive to EGFR tyrosine kinase inhibition.

GeneCards OncoKB My Cancer Genome