Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ p.Gln209Pro (p.Q209P)
(
ENST00000286548.9 )
GNAQ p.Gln209Pro (p.Q209P) ( ENST00000286548.9 ) - Associated Disease
- skin melanoma
- Source Database
- CIViC Evidence
- Description
- Cells were derived from a 26-year old patient with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma (designated 20 092 cells). Five of his metastases evaluated using whole genome sequencing contained a GNAQ (Q209P) mutation. 20 092 cells were insensitive to BRAF inhibition (PLX4720) in both proliferation assays and evaluation of pERK compared to BRAF V600E mutated, GNAQ wild-type A375P cells. Using GNAQ (Q209P) siRNA in 22 092 cells, ERK activity was suppressed and cell sensitivity to PLX4720 was increased.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1537
- Gene URL
- https://civic.genome.wustl.edu/links/genes/2317
- Variant URL
- https://civic.genome.wustl.edu/links/variants/604
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Skin Melanoma
- Evidence Direction
- Supports
- Drug
- PLX4720
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 24504448
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| PLX4720 | Resitance or Non-Reponse | true |