Annotation Detail
Information
- Associated Genes
- ERBB2
- Associated Variants
-
ERBB2 AMPLIFICATION
(
ENST00000269571.10 )
ERBB2 AMPLIFICATION ( ENST00000269571.10 ) - Associated Disease
- scrotum Paget's disease
- Source Database
- CIViC Evidence
- Description
- A 71-year old male with metastatic extramammary Paget’s disease of the scrotum overexpressing Her2/neu was treated with trastuzumab, achieving a complete response. At 12 months, he maintains stable disease.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1693
- Gene URL
- https://civic.genome.wustl.edu/links/genes/20
- Variant URL
- https://civic.genome.wustl.edu/links/variants/306
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Scrotum Paget's Disease
- Evidence Direction
- Supports
- Drug
- Trastuzumab
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25692060
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trastuzumab | Sensitivity | true |