ERBB2 P780INS

erbbb2 p780插入是第一个功能分类的erbb2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 P780 insertion 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 activating mutations confer sensitivity to a host of tyrosine kinase inhibitors, which is the topic of current clinical trials and research.

别名

PRO780INS
Allele Registry ID:CA135401
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
173788101137881012GGGCTCCCCA
Transcript
ENST00000269571.5

基因序列

ENST00000269571.5:c.2340_2341insGGCTCCCCA
NC_000017.10:g.37881011_37881012insGGCTCCCCA