Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 MUTATION
NF1 MUTATION - Associated Disease
- plexiform neurofibroma
- Source Database
- CIViC Evidence
- Description
- Treatment with selumetinib (NCT01362803) resulted in confirmed partial, long term responses in 17 of the 24 children with NF1 associated plexiform fibromas (71%) and decreases from baseline in neurofibroma volume in 12 of 18 mice (67%).
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1958
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3867
- Variant URL
- https://civic.genome.wustl.edu/links/variants/587
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Plexiform Neurofibroma
- Evidence Direction
- Supports
- Drug
- Selumetinib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 28029918
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Selumetinib | Sensitivity | true |