GNAQ, G protein subunit alpha q, 2776

N. diseases: 219; N. variants: 7
Disease: Uveal melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE GNAQ and GNA11 mutations in uveal melanoma. 25304237 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Somatic mutations in GNAQ/11 were observed in 35/42 (83.3%) of primary UM. 31173078 2019
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Patient survival in uveal melanoma is not affected by oncogenic mutations in GNAQ and GNA11. 23778528 2013
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Uveal melanoma (UM), the most common ocular malignancy, is characterized by GNAQ/11 mutations. 31801083 2019
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE GNAQ/11 mutations in uveal melanoma: is YAP the key to targeted therapy? 24937456 2014
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Our finding of the frameshift deletion (p.H387fs) in exon 4 of SOX10 in UM provides an important insight and complements earlier findings of mutations in GNAQ and SF3B1 on the genomic basis of UM. 24927141 2014
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Further studies of uveal melanoma are required to investigate the functional and prognostic relevance of oncogenic mutations in GNA11 and GNAQ. 23887304 2014
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Activating mutations at codon 209 were identified in GNAQ in 33 (49%) of 67 primary UMs, including 2 (22%) of 9 iris melanomas and 31 (54%) of 58 posterior UMs. 18719078 2008
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE RasGRP3 Mediates MAPK Pathway Activation in GNAQ Mutant Uveal Melanoma. 28486107 2017
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GeneticVariation disease BEFREE Oncogenic mutations in UM involving exons 4 and 5 of GNAQ and GNA11, respectively, were analysed by sequencing. 23456173 2013
CUI: C0220633
Disease: Uveal melanoma
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
CUI: C0220633
Disease: Uveal melanoma
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