Annotation Detail

Information
Associated Genes
BRAF
Associated Variants
BRAF PAPSS1-BRAF
Associated Disease
melanoma
Source Database
CIViC Evidence
Description
BRAF-fusion in "pan-negative" melanomas were identified in TCGA data. Cell-lines with PAPSS1-BRAF fusion were resistant to treatment with Vemurafenib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/725
Gene URL
https://civic.genome.wustl.edu/links/genes/5
Variant URL
https://civic.genome.wustl.edu/links/variants/286
Rating
3
Evidence Type
Predictive
Disease
Melanoma
Evidence Direction
Supports
Drug
Vemurafenib
Evidence Level
D
Clinical Significance
Resistance
Pubmed
24345920
Drugs
Drug NameSensitivitySupported
VemurafenibResitance or Non-Reponsetrue