Annotation Detail
Information
- Associated Genes
- VHL
- Associated Variants
-
VHL LOSS-OF-FUNCTION
VHL LOSS-OF-FUNCTION - Associated Disease
- renal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- VHL mutations were evaluated in 78 tumors samples of patients with metastatic RCC treated with pazopanib as part of a clinical trial. Overall, 87% had one VHL mutation, 12% showed promoter hypermethylation, and 6 patients had both. 8 patients exhibited neither mutation nor methylation of VHL. There was no correlation between VHL status and overall response rate or progression free survival under pazopanib therapy.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1672
- Gene URL
- https://civic.genome.wustl.edu/links/genes/58
- Variant URL
- https://civic.genome.wustl.edu/links/variants/160
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Renal Cell Carcinoma
- Evidence Direction
- Does Not Support
- Drug
- Pazopanib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23881929
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Pazopanib | Sensitivity | false |