Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A
(
ENST00000257290.10 )
PDGFRA p.Val561Asp (p.V561D), ENSG00000282278 c.1018-56T>A ( ENST00000257290.10 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, Chinese hamster ovary cells expressing PDGFRA V561D mutation demonstrated sensitivity to sunitinib treatment (IC50<100), though this sensitivity was indistinguishable from Chinese hamster ovary cells expressing wild-type PDGFRA. Sensitivity was determined by assessing PDGFRA auto-phosphorylation.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4056
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/941
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Does Not Support
- Drug
- Sunitinib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 18955458
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Sunitinib | Resitance or Non-Reponse | false |