Annotation Detail
Information
- Associated Genes
- BRAF
- Associated Variants
-
BRAF V600E AMPLIFICATION
(
ENST00000288602.11 )
BRAF V600E AMPLIFICATION ( ENST00000288602.11 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- In a retrospective study, authors analyzed BRAF V600 mutated melanoma metastases derived from 10 patients treated with the combination of dabrafenib and trametinib for resistance mechanisms and genetic correlates of response. An acquired resistance mechanism activating the MAPK pathway was identified in 9 tumors; BRAF amplification (n=4), MEK1/2 mutation (n=3), NRAS mutations (n=3). Among them, mutual exclusive alterations were BRAF amplification (n=4), MEK2 C125S (n=1), and NRAS Q61K (n=2).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7677
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1269
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Dabrafenib,Trametinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 25452114
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dabrafenib | Resitance or Non-Reponse | true |
| Trametinib | Resitance or Non-Reponse | true |