Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF V600
BRAF V600 - Associated Disease
- Langerhans-cell histiocytosis
- Source Database
- CIViC Evidence
- Description
- Patients with BRAF-V600 mutated cancers were identified (n=122) and clinical response to vemurafenib was evaluated. Of the 14 patients with Langerhans’-cell histiocytosis, 43% of patients had a response to vemurafenib (1 complete and 5 partial responses), disease regression was observed in 12/14 patients, all patients detailed improvement in disease-related symptoms, 0 patients had progressive disease during treatment, 12-month progression free survival was 91%, and overall survival rate was 100%. Among all 18 patients with Erdheim-Chester disease or Langerhans histiocytosis, 94% had BRAF V600E mutations and the remaining 6 percent (1 patient) had an unknown V600 mutation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1575
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/17
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Langerhans-Cell Histiocytosis
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26287849
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Sensitivity | true |