Annotation Detail
Information
- Associated Genes
- SOX10
- Associated Variants
-
SOX10 LOSS
(
ENST00000396884.8 )
SOX10 LOSS ( ENST00000396884.8 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- FACS-assisted shRNA genetic screen identified SOX10 as a determinant of vemurafenib resistance. Suppression of SOX10 in melanoma cells confers resistance to BRAF and MEK inhibitors through activation of TGF-β signalling and upregulation of EGFR and PDGFRB. EGFR expression or exposure to TGF-β becomes beneficial for proliferation of melanoma cells in the presence of BRAF or MEK inhibitors. Melanoma cells with low SOX10 and consequently high EGFR expression are enriched in the presence of vemurafenib. This study finds evidence for SOX10 loss (N=2) and/or activation of TGF-β signalling (N=2) in 4 of the 6 EGFR-positive drug-resistant melanoma patient samples.
- Variant Origin
- N/A
- Variant Origin
- N/A
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1710
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5418
- Variant URL
- https://civic.genome.wustl.edu/links/variants/672
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24670642
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |