ERBB2 DEL 755-759

755-759的帧内删除erbb2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 in-frame deletion of 755-759 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

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
173788021937880233TTGAGGGAAAACACA
Transcript
ENST00000269571.5

基因序列

ENST00000269571.5:c.2263_2277del
NC_000017.10:g.37880219_37880233del
NP_004439.2:p.Leu755_Thr759del
NM_004448.3:c.2263_2277delTTGAGGGAAAACACA