×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CGI
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
GNAQ mutations are present in uveal melanocytomas and in a case of transformation to melanoma , implicating GNAQ-dependent mitogen activation signals, in the pathogenesis of uveal melanocytoma.23685997 2013
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Activating mutations of GNAq protein in a hotspot at codon 209 have been recently described in uveal melanomas .
20714830 2010
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations).
28409567 2017
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Combination small molecule MEK and PI3K inhibition enhances uveal melanoma cell death in a mutant GNAQ- and GNA11-dependent manner.
22733540 2012
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
Biomarker
BEFREE
Deep sequencing studies show that 4.2% of tumours carry activating mutations in GNAS (encoding Gαs), and that oncogenic activating mutations in genes encoding Gαq family members (GNAQ or GNA11) are present in ~66% and ~6% of melanomas arising in the eye and skin, respectively.
23640210 2013
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
Biomarker
BEFREE
Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas .
23778528 2013
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Finally, Tris DBA palladium was orally effective against GNAQ mutant melanoma <i>in vivo</i>.
31320995 2019
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
Biomarker
BEFREE
Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas .
29209985 2019
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
19078957 2009
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
Biomarker
BEFREE
Furthermore, other mutations, namely, N-RAS, KIT, and GNAQ , should be sequenced according to distinct melanoma specific subtypes and clinical aspects.
24591764 2014
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours.
2549426 1989
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Impact of combined mTOR and MEK inhibition in uveal melanoma is driven by tumor genotype.
22808163 2012
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
Biomarker
BEFREE
Inhibiting key down-stream effectors of GNAQ /11 represents a rational therapeutic approach for uveal melanomas that harbor these mutations.
22733540 2012
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
AlteredExpression
BEFREE
Integrative transcriptome analysis of human and murine melanomas identified RasGRP3 to be specifically expressed in GNAQ /GNA11-driven melanomas .
29490280 2018
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Intriguingly, enforced expression of GNAQ (Q209L ) progressively eliminated melanocytes from the interfollicular epidermis in adults, possibly explaining the near absence of GNAQ (Q209) mutations in human epithelial melanomas .
26113083 2015
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
Biomarker
BEFREE
Low mutational burden of eight genes involved in the MAPK/ERK, PI3K/AKT, and GNAQ /11 pathways in female genital tract primary melanomas .
25695059 2015
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells.
1328859 1992
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Mutations in GNAQ , the gene encoding an alpha subunit of heterotrimeric G proteins, are found in 40% of uveal melanomas .
21083380 2010
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Mutations in GNA11 in uveal melanoma.
21083380 2010
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Oncogenic mutations in GNAQ occur early in uveal melanoma.
18719078 2008
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
LHGDN
Oncogenic mutations in GNAQ occur early in uveal melanoma.
18719078 2008
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
CausalMutation
CLINVAR
Protein kinase C inhibitor AEB071 targets ocular melanoma harboring GNAQ mutations via effects on the PKC/Erk1/2 and PKC/NF-κB pathways.
22653968 2012
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Recent genomic studies have shown that mutations within components of G protein-coupled receptor (GPCR) signaling are early events associated with approximately 98% of uveal melanomas .<b>Implications:</b> This review discusses the alterations in GPCR signaling components (GNAQ and GNA11), dysregulated GPCR signaling cascades, and viable targeted therapies with the intent to provide insight into new therapeutic strategies in uveal melanoma.<i></i>.
28223438 2017
×
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
melanoma
0.700
GeneticVariation
BEFREE
Sequencing of melanoma driver genes revealed GNAQ (p.Q209L ) mutations in two samples; although it is possible that these samples represent extraocular spread of an occult uveal melanoma.
30558566 2018