ERBB2 D769H

erbb2 d769h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)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 D769H 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 were shown to be sensitive to the kinase inhibitor neratinib. More recent evidence may show that HER2 activating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.

别名

ASP769HIS,D739H,D754H,ASP739HIS,ASP754HIS,D769H,RS121913468
Allele Registry ID:CA16602465
ClinVar ID:375991

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
173788026137880261GC
Transcript
ENST00000269571.5

基因序列

NM_001289937.1:c.2305G>003eC
NP_001276866.1:p.Asp769His
ENST00000269571.5:c.2305G>003eC
NC_000017.10:g.37880261G>003eC