Annotation Detail
Information
- Associated Genes
- PTCH1
- Associated Variants
-
PTCH1 MUTATION
PTCH1 MUTATION - Associated Disease
- Brain Medulloblastoma
- Source Database
- CIViC Evidence
- Description
- 133 sonic-hedghog driven medulloblastomas were sequenced for alterations (WGS or WES). 60 cases exhibited PTCH1 mutations, most of which were likely loss-of-function (spread across the gene and of types including: stop gain, splice site, frameshift, etc.). Functional models also showed PTCH1 mutant xenografts to be sensitive to SHH inhibition with sonidegib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/748
- Gene URL
- https://civic.genome.wustl.edu/links/genes/4645
- Variant URL
- https://civic.genome.wustl.edu/links/variants/301
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Brain Medulloblastoma
- Evidence Direction
- Supports
- Drug
- Sonidegib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24651015
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sonidegib | Sensitivity | true |