Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ MUTATION
GNAQ MUTATION - Associated Disease
- uveal melanoma
- Source Database
- CIViC Evidence
- Description
- Preclinical study in uveal melanoma cell lines. Cell lines (n=4) with GNAQ mutation (92.1, Omm1.3, Mel270, Mel202) were more sensitive to BRD4 inhibition with JQ1 than GNAQ/GNA11 wild type (n=3) cell line. JQ1 also inhibited growth of a GNAQ mutant cell line (92.1) in a mouse xenograft model compared to vehicle (N=5 mice/group).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1210
- 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
- JQ1
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 26397223
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| JQ1 | Sensitivity | true |