Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ Q209
GNAQ Q209 - Associated Disease
- uveal melanoma
- Source Database
- CIViC Evidence
- Description
- Phase 1 study of MAPK1/2 inhibitor BAY 86-9766. 53 patients were evaluated for efficacy, one patients achieved a PR and 11 patients had stable disease. One ocular melanoma patient with prolonged stable disease, who later went on to complete 28 courses, was positive for GNAQ Q209L and PTEN R173S mutations. The PTEN mutation was identified only in the postdose biopsy and not in the predose biopsy.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1233
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2317
- Variant URL
- https://civic.genome.wustl.edu/links/variants/507
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Uveal Melanoma
- Evidence Direction
- Supports
- Drug
- Refametinib
- Evidence Level
- C
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 23434733
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Refametinib | Sensitivity | true |