Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Leu755_Thr759del (p.L755_T759del)
(
ENST00000406381.6,
ENST00000445658.6,
ENST00000269571.10,
ENST00000541774.5,
ENST00000584450.5,
ENST00000584601.5 )
ERBB2 p.Leu755_Thr759del (p.L755_T759del) ( ENST00000269571.10, ENST00000406381.6, ENST00000445658.6, ENST00000541774.5, ENST00000584450.5, ENST00000584601.5 ) - Associated Disease
- breast cancer
- Source Database
- CIViC Evidence
- Description
- In MCF10A cell lines retrovirally transduced with wildtype or mutant ERBB2, cells expressing the in-frame deletion of amino acids 755-759 were shown to be sensitive to neratinib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/281
- Gene URL
- https://civic.genome.wustl.edu/links/genes/20
- Variant URL
- https://civic.genome.wustl.edu/links/variants/37
- Rating
- 5
- Evidence Type
- Predictive
- Disease
- Breast Cancer
- Evidence Direction
- Supports
- Drug
- Lapatinib,Neratinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23220880