Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO MUTATION
SMO MUTATION - Associated Disease
- basal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- Study explored the response to the SMO inhibitor sonidegib (LDE225) in a cohort of 9 patients with advanced basal cell carcinoma that exhibited treatment resistance with vismodegib (GDC0449). Sequencing revealed that 5 of these patients harbored SMO mutations known to confer resistance to the Smoothened inhibitors (D473G, D473H, Q477E, S533N, W535L) an additional patient harbored a SMO mutation of unknown consequence (R168H). Of these patients, 4 with a SMO mutation displayed progressive disease and 1 stable disease for 58 weeks according to RECIST v1.1 criteria.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1477
- Gene URL
- https://civic.genome.wustl.edu/links/genes/5365
- Variant URL
- https://civic.genome.wustl.edu/links/variants/300
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Basal Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Sonidegib,Vismodegib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 26546616
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sonidegib | Resitance or Non-Reponse | true |
| Vismodegib | Resitance or Non-Reponse | true |