Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Ile843del (p.I843del), ENSG00000282278 p.Ile603del (p.I603del)
(
ENST00000257290.10 )
PDGFRA p.Ile843del (p.I843del), ENSG00000282278 p.Ile603del (p.I603del) ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- 15/127 patients with KIT-WT metastatic gastrointestinal stromal tumors were tested for PDGFRA mutations. 6 GISTs harbored PDGFRA mutations. 1 patient had a deletion of I843. CHO cells expressing this variant showed similar sensitivity to imatinib as cells expressing wildtype PDGFRA. 2/3 patients with a mutation determined to be sensitive in vitro achieved partial response on imatinib treatment. It is not noted whether the patient whose GISTs harbored I843del had partial response or progressive disease.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1309
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/101
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 14645423
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Sensitivity | true |