EGFR L858R

EGFR L858R长期以来被认为是一种功能上显著的癌症突变,是肺癌中最常见的单一突变之一。最适合描述非小细胞肺癌(NSCLC),突变似乎赋予第一代和第二代tki的敏感性,如吉非替尼和奈拉汀尼。与单纯化疗相比,接受tki's治疗的NSCLC患者的总生存率和无进展生存率有所提高。第三代tki目前正在进行临床试验,专门研究eGFR的突变形式,其中一些已经显示出治疗对早期tki治疗无效的患者的疗效。
EGFR L858R has long been recognized as a functionally significant mutation in cancer, and is one of the most prevalent single mutations in lung cancer. Best described in non-small cell lung cancer (NSCLC), the mutation seems to confer sensitivity to first and second generation TKI's like gefitinib and neratinib. NSCLC patients with this mutation treated with TKI's show increased overall and progression-free survival, as compared to chemotherapy alone. Third generation TKI's are currently in clinical trials that specifically focus on mutant forms of EGFR, a few of which have shown efficacy in treating patients that failed to respond to earlier generation TKI therapies.

别名

LEU858ARG,RS121434568
Allele Registry ID:CA126713
ClinVar ID:16609

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
75525951555259515TG
Transcript
ENST00000275493.2

基因序列

NC_000007.13:g.55259515T>003eG
NM_005228.4:c.2573T>003eG
ENST00000275493.2:c.2573T>003eG
NP_005219.2:p.Leu858Arg