Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO MUTATION
SMO MUTATION - Associated Disease
- basal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- In basal cell carcinoma, H231R, D473G, W281C and Q477E mutations conferred resistance to SMO-inhibitor vismodegib. SMO mutations were identified in 22 of 44 resistant basal cell carcinomas in 15 patients.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/746
- 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
- Vismodegib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 25759020
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vismodegib | Resitance or Non-Reponse | true |