ERBB2 V777L

erbb2 v777l是第一个功能分类的erbbb2变体(Bose等人2013年)。这种突变在体外试验中被证明是一种激活突变。在同一篇论文中,MCF10A乳腺癌细胞系的这种突变(连同其他erbb2激活突变)已被证明对激酶抑制剂neratinib敏感。最近的证据可能表明,her2激活突变赋予了对大量酪氨酸激酶抑制剂的敏感性,这是当前临床试验和研究的主题。
ERBB2 V777L was one of the first ERBB2 variants to be functionally classified (Bose et al. 2013). This mutation was shown to be an activating mutation in an in vitro assay. In the same paper, this mutation (along with other ERBB2 activating mutations) in MCF10A breast cancer cell lines have been shown to be sensitive to the kinase inhibitor neratinib. More recent evidence may show that HER2 acitivating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.

别名

V747L,V762L,VAL777LEU,RS121913471
Allele Registry ID:CA135387
ClinVar ID:44991

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
173788100037881000GT
Transcript
ENST00000269571.5

基因序列

NM_004448.3:c.2329G>003eT
NP_004439.2:p.Val777Leu
ENST00000269571.5:c.2329G>003eT
NC_000017.10:g.37881000G>003eT