Annotation Detail
Information
- Associated Genes
- NRG1
- Associated Variants
- NRG1 ATP1B1-NRG1 fusion
- Associated Disease
- cholangiocarcinoma
- Source Database
- CIViC Evidence
- Description
- In a single patient with presumed cholangiocarcinoma a novel ATP1B1-NRG1 gene fusion was detected. Integrative genome analysis was used to assess the potential functional significance of the gene fusion, prioritizing a therapeutic strategy targeting the HER-family of growth factor receptors with afatinib. This patient was treated with the pan HER-family kinase inhibitor afatinib and displayed significant and durable response to treatment.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5858
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2593
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2178
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Cholangiocarcinoma
- Evidence Direction
- Supports
- Drug
- Afatinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 28950338
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Afatinib | Sensitivity | true |