Annotation Detail
Information
- Associated Genes
- NF1
- Associated Variants
-
NF1 MUTATION
NF1 MUTATION - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- NF1 was identified in an unbiased RNAi screen as mediator of resistance to BRAF inhibition in BRAF mutant melanoma. BRAF V600E/NF1 mutant cell lines were sensitive to ERK inhibition with VTX-11e, modest resistance was observed against RAF inhibitor AZ628. Combined PLX4720 and AZD6244 (selumetinib) achieved greater efficacy than either agent alone but NF1 knockdown was still associated with residual resistance to combined RAF/MEK inhibition in vitro.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1471
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3867
- Variant URL
- https://civic.genome.wustl.edu/links/variants/587
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- VTX-11e,AZ628
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23288408