EGFR VIII

egfrviii变异体是一种致癌突变,已在包括多形性胶质母细胞瘤、乳腺癌、肺癌、头颈癌、卵巢癌和前列腺癌在内的多种癌症中报道。在高级别胶质瘤中,约30%的EGFR扩增病例报告了EGFRVIII。egfrviii突变导致受体外域外显子2-7缺失。这种变异的存在与临床对eGFR-tki的反应有关。(Arteaga和Engelmann,2014年)
The EGFRvIII variant is an oncogenic mutation that has been reported in several cancers including glioblastoma multiforme, breast, lung, head and neck, ovarian and prostate. In high-grade gliomas, EGFRvIII has been reported in about 30% of cases with EGFR amplification. The EGFRvIII mutation leads to deletion of the receptor ectodomain exons 2-7. The presence of this variant has been linked with clinical response to EGFR TKI. (Arteaga and Engelmann, 2014)

别名


Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
75508705855223523
Transcript
ENST00000275493.2

基因序列