|
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 |
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 |
The frequencies of GNAQ and GNA11 mutations in UM were 45% (38/85) and 35% (30/85) respectively.
|
31614358 |
2019 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
In uveal melanoma (UM) cells, the protein kinase C (pathway) is almost generally constitutively activated as a result of an activating mutation in either the GNAQ or the GNA11 G-protein.
|
30525429 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM), a rare cancer of the eye, is characterized by initiating mutations in the genes G-protein subunit alpha Q (<i>GNAQ</i>), G-protein subunit alpha 11 (<i>GNA11</i>), cysteinyl leukotriene receptor 2 (<i>CYSLTR2</i>), and phospholipase C beta 4 (<i>PLCB4</i>) and by metastasis-promoting mutations in the genes splicing factor 3B1 (<i>SF3B1</i>), serine and arginine rich splicing factor 2 (SRSF2), and BRCA1-associated protein 1 (<i>BAP1</i>).
|
31671564 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Tris DBA palladium is an orally available inhibitor of GNAQ mutant uveal melanoma <i>in vivo</i>.
|
31320995 |
2019 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity of GNAQ/11 mutation inversely correlates with the metastatic rate in uveal melanoma.
|
31533929 |
2019 |
|
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 |
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 |
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 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, GNAQ/11 mutation was genetically homogeneous between primary and metastatic melanoma lesions in uveal melanoma.
|
29361821 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Uveal melanoma (UM) is characterized by mutually exclusive activating mutations in GNAQ, GNA11, CYSLTR2, and PLCB4, four genes in a linear pathway to activation of PLCβ in almost all tumors and loss of BAP1 in the aggressive subset.
|
29490280 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Common mutations that promote uveal melanoma initiation and progression include alterations in G protein subunit alpha q/11 (GNAQ/GNA11) and breast cancer gene 1-associated protein 1 (BAP1).
|
29206651 |
2018 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To evaluate clinico-pathological and molecular prognostic factors in a well-defined series of posterior uveal melanoma (UM) with focus on chromosomal aberrations and mutations in the GNAQ, GNA11 and BRCA1-associated protein 1 (BAP1) genes.
|
28444874 |
2018 |
|
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 |
RasGRP3 Mediates MAPK Pathway Activation in GNAQ Mutant Uveal Melanoma.
|
28486107 |
2017 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
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 |
|
Uveal melanoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus.
|
28809862 |
2017 |
|
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 |
ARF6 Is an Actionable Node that Orchestrates Oncogenic GNAQ Signaling in Uveal Melanoma.
|
27265506 |
2016 |
|
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 |
CTD_human |
We analyzed genomics data from 136 uveal melanoma samples and found a recurrent mutation in CYSLTR2 (cysteinyl leukotriene receptor 2) encoding a p.Leu129Gln substitution in 4 of 9 samples that lacked mutations in GNAQ, GNA11, and PLCB4 but in 0 of 127 samples that harbored mutations in these genes.
|
27089179 |
2016 |
|
Uveal melanoma
|
0.800 |
Biomarker
|
disease |
BEFREE |
Frequent mutations have been described in the following 5 genes in uveal melanoma (UM): BAP1, EIF1AX, GNA11, GNAQ, and SF3B1.
|
27123562 |
2016 |