Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V)
(
ENST00000257290.10 )
PDGFRA p.Asp842Val (p.D842V), ENSG00000282278 p.Asp602Val (p.D602V) ( ENST00000257290.10 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, Chinese hamster ovary cells expressing PDGFRA D842V mutation demonstrated reduced sensitivity to imatinib treatment (IC50=2,500 vs. IC50<100), compared to 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/5346
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/99
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Imatinib Mesylate
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 18955458
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib Mesylate | Resitance or Non-Reponse | true |