melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Somatic GNAQ mutations at codon 209 have been identified in approximately 50% of uveal melanomas and have been reported to be oncogenic through activating PLCβ/PKC/Erk1/2 pathways.
|
22653968 |
2012 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Finally, Tris DBA palladium was orally effective against GNAQ mutant melanoma <i>in vivo</i>.
|
31320995 |
2019 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
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 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of GNAq protein in a hotspot at codon 209 have been recently described in uveal melanomas.
|
20714830 |
2010 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To examine whether GNAQ and GNA11 somatic mutations previously identified in uveal melanomas of Caucasians are associated with uveal melanomas in Chinese patients.
|
25280020 |
2014 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GNAQ, the gene encoding an alpha subunit of heterotrimeric G proteins, are found in 40% of uveal melanomas.
|
21083380 |
2010 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
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 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The GNAQ A626C mutation (Q209P) was almost exclusively observed in choroidal melanomas from the illuminated posterior side.
|
26368812 |
2015 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
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 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified PKC δ and ɛ as required and sufficient to activate MAPK in GNAQ mutant melanomas.
|
28486107 |
2017 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These G-alpha protein mutations occur in the genes GNAQ and GNA11 and are seen at a high frequency in uveal melanomas, those melanomas that begin in the eye.
|
25030020 |
2014 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Oncogenic mutations in GNAQ occur early in uveal melanoma.
|
18719078 |
2008 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations).
|
28409567 |
2017 |
melanoma
|
0.700 |
GeneticVariation
|
disease |
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 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Exons 4 and 5 from GNAQ and GNA11 were amplified and sequenced from 92 ciliary body and choroidal melanomas.
|
23778528 |
2013 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
We aim to characterize the frequency of mutations of the following genes: BRAF, NRAS, KIT, GNA11, and GNAQ in female genital tract melanomas.
|
24842760 |
2014 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Frequent and Yet Unreported GNAQ and GNA11 Mutations are Found in Uveal Melanomas.
|
29209985 |
2019 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
The results of this study suggest that GNAQ mutated uveal melanomas do not exhibit a higher deregulation of proliferation or higher activation of the MAPK signalling pathway than uveal melanomas without GNAQ overactivation.
|
20805136 |
2011 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Furthermore, other mutations, namely, N-RAS, KIT, and GNAQ, should be sequenced according to distinct melanoma specific subtypes and clinical aspects.
|
24591764 |
2014 |
melanoma
|
0.700 |
Biomarker
|
disease |
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 |
melanoma
|
0.700 |
Biomarker
|
disease |
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 |
melanoma
|
0.700 |
Biomarker
|
disease |
CTD_human |
The mutations, such as those in NRAS, BRAF, GNAQ and GNA11, promote the growth of melanoma cells in most part through the mitogen-activated protein kinase (MAPK) pathway.
|
23432625 |
2013 |
melanoma
|
0.700 |
Biomarker
|
disease |
BEFREE |
Inhibiting key down-stream effectors of GNAQ/11 represents a rational therapeutic approach for uveal melanomas that harbor these mutations.
|
22733540 |
2012 |
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Somatic mutations in the GNAQ gene at codon 209, resulting in constitutive activation of GNAQ, were detected in 7/19 (37%) tumors, including 6/12 melanocytomas, 0/3 intermediate-grade melanocytomas, and 1/4 melanomas.
|
19936769 |
2010 |
melanoma
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Integrative transcriptome analysis of human and murine melanomas identified RasGRP3 to be specifically expressed in GNAQ/GNA11-driven melanomas.
|
29490280 |
2018 |