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. Increased PKC activity was found in uveal melanoma cell lines with GNA11 or GNAQ mutations (n=6) compared to GNA wt cell lines (n=4) and could be induced by introducing these mutations into wt cell lines. Cell lines carrying GNA mutations were more sensitive to PKC inhibition with AEB071 and AHT956 in vitro and in vivo. Combined inhibition of MEK and PKC with AEB071 and PD0325901led to sustained MAPK-signalling blockade and induced apoptosis.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1953
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2317
- Variant URL
- https://civic.genome.wustl.edu/links/variants/505
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Uveal Melanoma
- Evidence Direction
- Supports
- Drug
- Sotrastaurin Acetate,MEK Inhibitor PD0325901
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24141786
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| MEK Inhibitor PD0325901 | Sensitivity | true |
| Sotrastaurin Acetate | Sensitivity | true |