Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ MUTATION
GNAQ MUTATION - Associated Disease
- uveal melanoma
- Source Database
- CIViC Evidence
- Description
- Phase 1 study of trametinib in 97 patients with melanoma (16 with uveal melanoma). Analysis in patients with uveal melanoma identified GNAQ and GNA11 mutations in six patients, in which three SD and three PD were the best responses. One patient with a GNA11 mutation identified by Illumina genotyping stayed on study treatment for >40 weeks.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1229
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2317
- Variant URL
- https://civic.genome.wustl.edu/links/variants/505
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Uveal Melanoma
- Evidence Direction
- Supports
- Drug
- Trametinib
- Evidence Level
- B
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 22805292
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Trametinib | Sensitivity | true |