Annotation Detail
Information
- Associated Genes
- SMO
- Associated Variants
-
SMO MUTATION
SMO MUTATION - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- The phase 2a MyPathway study assigned patients with HER2, EGFR, BRAF or SHH alterations to treatment with pertuzumab plus trastuzumab, erlotinib, vemurafenib, or vismodegib, respectively. Twenty-one patients had mutations in the Hedgehog pathway (PTCH-1, n = 18; SMO, n = 3). None of the patients with SMO mutations responded to SHH-inhibition with vismodegib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5979
- 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
- Cancer
- Evidence Direction
- Does Not Support
- Drug
- Vismodegib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 29320312
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vismodegib | Sensitivity | false |