Annotation Detail
Information
- Associated Genes
- NF2
- Associated Variants
-
NF2 MUTATION
NF2 MUTATION - Associated Disease
- acoustic neuroma
- Source Database
- CIViC Evidence
- Description
- Ten patients with Neurofibromatosis 2 were enrolled for treatment with Everolimus. At 12 months, no patients had reduction in tumor volume >20%, however, five patients had stable disease with a reduction in annual growth rate from 67% growth/year to 0.5% growth/year. Growth of tumors ensued after discontinuation of Everolimus.
- Variant Origin
- germline
- Variant Origin
- Rare Germline
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1671
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3870
- Variant URL
- https://civic.genome.wustl.edu/links/variants/659
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Acoustic Neuroma
- Evidence Direction
- Supports
- Drug
- Everolimus
- Evidence Level
- B
- Clinical Significance
- N/A
- Pubmed
- 25567352
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | N/A | true |