Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO MUTATION
SMO MUTATION - Associated Disease
- basal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- Basal cell carcinomas with ligand-binding pocket or constitutively active mutations in the SMO gene were sensitive to inhibition of downstream hedgehog signaling with PSI (aPKC-ι/λ/GLI inhibitor) or arsenic trioxide.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/747
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5365
- Variant URL
- https://civic.genome.wustl.edu/links/variants/300
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Basal Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- PSI,Arsenic Trioxide
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25759020
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Arsenic Trioxide | Sensitivity | true |
| PSI | Sensitivity | true |