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Gene Symbol GNAQ
Synonyms CMC1 | G-ALPHA-q | GAQ | SWS
Gene Description GNAQ, G protein subunit alpha q, is a guanine-binding protein (G protein) subunit, which is activated following ligand binding to G-protein coupled receptors and functions in cell signaling (PMID: 27148356). GNAQ hotspot mutations impair intrinsic GTPase activity, resulting in constitutive pathway activation and are common in uveal melanoma (PMID: 23640210, PMID: 27148356).

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
GNAQ exon5 uveal melanoma no benefit Selumetinib Phase II Actionable In a Phase II trial, Selumetinib (AZD6244) did not improved overall survival (10.9 vs 9.1 months, p=0.59) compared to chemotherapy in patients with uveal melanoma harboring GNAQ or GNA11 exon 5 mutations (n=83) (PMID: 24938562; NCT01143402). 24938562
GNAQ mutant uveal melanoma predicted - sensitive AEB071 + CGM097 Preclinical - Pdx & cell culture Actionable In a preclinical study, treatment with the combination of Sotrastaurin (AEB071) and CGM097 resulted in tumor regression or stasis in patient-derived xenograft (PDX) models of uveal melanoma harboring GNAQ mutations, and induced apoptosis and inhibited growth of GNAQ-mutant uveal melanoma cell lines in culture (PMID: 27507190). 27507190
GNAQ mutant uveal melanoma predicted - sensitive AEB071 + Everolimus Preclinical - Pdx & cell culture Actionable In a preclinical study, treatment with the combination of Sotrastaurin (AEB071) and Afinitor (everolimus) inhibited tumor growth in patient-derived xenograft (PDX) models of uveal melanoma harboring GNAQ mutations, including tumor regression or stasis, and inhibited growth of GNAQ-mutant uveal melanoma cell lines in culture (PMID: 27507190). 27507190
GNAQ mutant uveal melanoma predicted - sensitive AEB071 + Binimetinib Preclinical - Pdx & cell culture Actionable In a preclinical study, the combination of Binimetinib (MEK162) and Sotrastaurin (AEB071) inhibited tumor growth in patient-derived xenograft (PDX) models of uveal melanoma harboring GNAQ mutations, and inhibited growth of GNAQ-mutant uveal melanoma cell lines in culture (PMID: 27507190). 27507190
GNAQ mutant uveal cancer no benefit Trametinib Phase I Actionable In a Phase I trial, Mekinist (trametinib) treatment resulted in stable disease as best response in 50% (3/6) of patients with uveal melanoma harboring GNAQ or GNA11 mutations (PMID: 22805292; NCT00687622). 22805292
GNAQ mutant uveal melanoma no benefit Dacarbazine + Selumetinib Phase III Actionable In a Phase III trial (SUMIT), Selumetinib (AZD6244) in combination with Deticene (dacarbazine) did not significantly improve progression-free survival (2.8 vs 1.8 months, HR=0.78, p=0.32) or overall survival (HR=0.75, p=0.40) in patients with metastatic uveal melanoma, 94% (73/78) of analyzed patients harbored mutually exclusive GNAQ or GNA11 mutations (PMID: 29528792; NCT01974752). 29528792
GNAQ Q209L uveal melanoma sensitive Enzastaurin Preclinical - Cell culture Actionable In a preclinical study, Enzastaurin (LY317615) increased cell-cycle arrest and apoptosis and decreased viability of uveal melanoma cell lines harboring GNAQ Q209L in culture (PMID: 22253748). 22253748
GNAQ Q209L uveal melanoma sensitive AEB071 + PD-0325901 Preclinical - Cell culture Actionable In a preclinical study, Sotrastaurin (AEB071), in combination with PD-0325901, worked synergisitically to inhibit MAPK pathway activation and proliferation of a uveal melanoma cell line harboring GNAQ Q209L (PMID: 24141786). 24141786
GNAQ Q209L uveal melanoma sensitive AEB071 Preclinical - Cell line xenograft Actionable In a preclinical study, human uveal melanoma cell lines harboring GNAQ Q209L demonstrated sensitivity to Sotrastaurin (AEB071) in culture, and Sotrastaurin (AEB071) decreased tumor growth in uveal melanoma cell line xenograft models harboring GNAQ Q209L (PMID: 24141786). 24141786
GNAQ Q209L uveal melanoma sensitive NAV-2729 Preclinical - Cell line xenograft Actionable In a preclinical study, NAV-2729 inhibited signaling downstream of GNAQ Q209L in melanoma cells in culture, and inhibited initiation and growth of tumors in a uveal melanoma cell line xenograft model harboring GNAQ Q209L (PMID: 27265506). 27265506
GNAQ Q209L uveal melanoma sensitive TAK-733 Preclinical - Cell culture Actionable In a preclinical study, TAK-733 inhibited growth of a uveal melanoma cell line harboring GNAQ Q209L in culture (PMID: 22515704). 22515704
GNAQ Q209L uveal melanoma sensitive Verteporfin Preclinical - Cell line xenograft Actionable In a preclinical study, Visudyne (verteporfin) inhibited tumor formation in a uveal melanoma cell line xenograft model harboring GNAQ Q209L (PMID: 27308390). 27308390
GNAQ Q209L uveal melanoma sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, uveal melanoma cell lines harboring GNAQ Q209L demonstrated increased sensitivity to growth inhibition by Mekinist (trametinib) in culture, compared to cells with wild-type GNAQ (PMID: 22733540). 22733540
GNAQ Q209L uveal melanoma sensitive GSK2126458 + Trametinib Preclinical - Cell culture Actionable In a preclinical study, treatment with the combination of Mekinist (trametinib) and GSK2126458 induced apoptosis in uveal melanoma cell lines harboring GNAQ Q209L in culture (PMID: 22733540). 22733540
GNAQ Q209L uveal melanoma sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Selumetinib (AZD6244) induced cell-cycle arrest and decreased viability of uveal melanoma cells harboring GNAQ Q209L in culture (PMID: 22550165). 22550165
GNAQ Q209L uveal melanoma sensitive U0126 Preclinical - Cell culture Actionable In a preclinical study, treatment with U0126 resulted in reduced cell numbers in uveal melanoma cell lines harboring GNAQ Q209L in culture (PMID: 19078957). 19078957
GNAQ Q209L uveal melanoma sensitive FR900359 Preclinical - Cell culture Actionable In a preclinical study, FR900359 inhibited ERK activation and proliferation, and induced cell-cycle arrest and apoptosis in a uveal melanoma cell line harboring GNAQ Q209L in culture (PMID: 30567972). 30567972
GNAQ Q209P uveal melanoma sensitive AEB071 Preclinical - Cell culture Actionable In a preclinical study, Sotrastaurin (AEB071) induced cell-cycle arrest and apoptosis, and decreased viability of a uveal melanoma cell line harboring GNAQ Q209P in culture (PMID: 22653968). 22653968
GNAQ Q209P uveal melanoma sensitive Enzastaurin Preclinical - Cell culture Actionable In a preclinical study, Enzastaurin (LY317615) increased cell-cycle arrest and apoptosis and decreased viability of a uveal melanoma cell line harboring GNAQ Q209P in culture (PMID: 22253748). 22253748
GNAQ Q209P uveal melanoma sensitive TAK-733 Preclinical - Cell culture Actionable In a preclinical study, TAK-733 inhibited growth of uveal melanoma cell lines harboring GNAQ Q209P in culture (PMID: 22515704). 22515704
GNAQ Q209P uveal melanoma sensitive Selumetinib Preclinical - Cell culture Actionable In a preclinical study, Selumetinib (AZD6244) induced cell-cycle arrest and decreased viability of uveal melanoma cells harboring GNAQ Q209P in culture (PMID: 22550165). 22550165
GNAQ Q209P uveal melanoma sensitive FR900359 Preclinical - Cell culture Actionable In a preclinical study, FR900359 inhibited ERK activation and proliferation, and induced cell-cycle arrest, apoptosis and differentiation in a uveal melanoma cell line harboring GNAQ Q209P in culture (PMID: 30567972). 30567972