Annotation Detail
Information
- Associated Genes
- PTCH1
- Associated Variants
-
PTCH1 MUTATION
PTCH1 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). Three patients with PTCH1 mutations had PRs to vismodegib (17%; unknown primary cancer, n = 1; squamous skin cancer, n = 1; salivary gland cancer, n = 1).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5978
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4645
- Variant URL
- https://civic.genome.wustl.edu/links/variants/301
- Rating
- 1
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Vismodegib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 29320312
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vismodegib | Sensitivity | true |