Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 p.Val842Ile (p.V842I)
(
ENST00000584450.5,
ENST00000269571.10,
ENST00000406381.6,
ENST00000445658.6,
ENST00000541774.5,
ENST00000584601.5 )
ERBB2 p.Val842Ile (p.V842I) ( ENST00000541774.5, ENST00000584450.5, ENST00000584601.5, ENST00000269571.10, ENST00000406381.6, ENST00000445658.6 ) - Associated Disease
- colon cancer
- Source Database
- CIViC Evidence
- Description
- Colon cancer patient derived xenografts with HER2 mutations are sensitive to HER2 targeted drugs and the greatest tumor reduction was seen with the combination of a tyrosine kinase inhibitor with trastuzumab.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1174
- Gene URL
- https://civic.genome.wustl.edu/links/genes/20
- Variant URL
- https://civic.genome.wustl.edu/links/variants/45
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Colon Cancer
- Evidence Direction
- Supports
- Drug
- Trastuzumab,Lapatinib,Neratinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26243863
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Lapatinib | Sensitivity | true |
| Neratinib | Sensitivity | true |
| Trastuzumab | Sensitivity | true |