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
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- This prospective study of 127 patients with metastatic gastrointestinal stromal tumors (GISTs) examined the relationship between kinase (KIT and PDGFRA) genotype and treatment outcome for patients enrolled in a randomized phase II trial of imatinib (CSTI571B 2222). Three patients' GISTs harbored PDGFRA D842V. Two of these patients experienced progressive disease and one was unassessable. The authors conclude that this finding is consistent with the work of others suggesting that PDGFRA D842V is an imatinib resistant variant in GIST.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/2478
- 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
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 14645423
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Resitance or Non-Reponse | true |