|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study confirms the previously reported GNAQ and GNA11 mutation frequencies in UMs as well as the presence of monosomy 3 as a factor strongly indicating poor prognosis.
|
25756553 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in exon 4 (R183) and exon 5 (Q209) of GNAQ and GNA 11 are almost exclusively found in uveal melanoma, thus providing a highly specific marker for the presence of circulating tumor DNA (ctDNA).
|
23634288 |
2013 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNAQ and GNA11 mutations in uveal melanoma.
|
25304237 |
2014 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in GNAQ/11 were observed in 35/42 (83.3%) of primary UM.
|
31173078 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, somatic mutations in either GNAQ or GNA11 are unique to UM tumors and could be used as potential markers to differentiate UM from metastatic CM and act as direct therapeutic targets.
|
24697775 |
2014 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results exclude GNAQ as a candidate gene in UM patients with a high risk for hereditary cancer predisposition.
|
21072599 |
2011 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Similarities with uveal melanoma were recently suggested as both entities harbor oncogenic mutations in GNAQ and GNA11.
|
25315378 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The lack of GNAQ mutations in conjunctival melanocytic lesions suggests the involvement of a different tumorigenic pathway from that of uveal melanoma.
|
20631239 |
2010 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11.
|
23778528 |
2013 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM), the most common ocular malignancy, is characterized by GNAQ/11 mutations.
|
31801083 |
2019 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Do GNAQ and GNA11 Differentially Affect Inflammation and HLA Expression in Uveal Melanoma?
|
31394807 |
2019 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
We investigated whether combining H101 with the downregulation of GNAQ expression would act synergistically in UM therapy.
|
30320917 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Recurrent coding mutations were found in the known UM drivers GNAQ, GNA11, BAP1, EIF1AX, and SF3B1.
|
27745836 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inhibitors or GNAQ may be targets for therapeutic intervention in uveal melanoma.
|
28257297 |
2017 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Whereas Q209L accounts for approximately half of GNAQ mutations in UM, Q209P is as frequent as Q209L and also promotes oncogenesis, but has not been characterized at the molecular level.
|
30352874 |
2018 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
ARF6 Is an Actionable Node that Orchestrates Oncogenic GNAQ Signaling in Uveal Melanoma.
|
27265506 |
2016 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
GNAQ/11 mutations in uveal melanoma: is YAP the key to targeted therapy?
|
24937456 |
2014 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Glu209 GNAQ and GNA11 missense variants we identified are common in uveal melanoma and have been shown to constitutively activate MAPK and/or YAP signaling.
|
27058448 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
We analyzed the transcriptional profile of cell lines treated with a mitogen-activated protein (MAP)/extracellular signal-regulated (ERK) kinase (MEK) inhibitor to identify gene targets of activated GNAQ and to evaluate the biologic importance of these genes in uveal melanoma.
|
22550165 |
2012 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we examined the frequency of GNAQ and GNA11 somatic mutations in cases of uveal melanoma in Japan and their relationship with clinicopathologic features or Ki-67-positive cell rates (Ki-67 labeling index: Ki-67 LI) using immunofluorescence methods.
|
28248732 |
2018 |
|
Uveal melanoma
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Hippo-independent activation of YAP by the GNAQ uveal melanoma oncogene through a trio-regulated rho GTPase signaling circuitry.
|
24882515 |
2014 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
What hope for the future? GNAQ and uveal melanoma.
|
21378004 |
2011 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Up to 95 % of all UMs carry somatic mutations in the G-coupled proteins GNAQ and GNA11 promoting anchorage-independent growth and proliferation.About 50 % of UMs are fatal.
|
25653058 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Overall, this model offers a new tool to dissect signaling by oncogenic GNAQ and to test potential therapeutics in an in vivo setting where GNAQ(Q209L) mutations contribute to both the initiation and metastatic progression of uveal melanoma.
|
26113083 |
2015 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The recent identification of frequent activating mutations in GNAQ or GNA11 in uveal melanoma provides an opportunity to better understand the pathogenesis of this melanoma subtype and to develop rational therapeutics to target the cellular effects mediated by these mutations.
|
22236444 |
2012 |