GNAQ — gene · CancerIndex

Curated evidence

Clinical evidence (9)

CIViC items involving this gene, grouped by molecular profile and therapy, with native levels and directions. 50 items per page.

civicCuratedShowing 1–9 of 9 evidence items · levels, directions and significance as curated at the source; each row links to its CIViC record.

Therapy	Cancer	Type	Level	Direction · significance	Rating (1–5)	Status	Evidence	Source
GNAQ G209P1
(prognostic)	Congenital Hemangioma	Prognostic	C	Supports Poor Outcome	3	submitted	EID8641 A 33-week gestational age male infant was prematurely delivered due to ultrasound findings of a large mass on his upper trunk. Segmentally distributed purple plaques were revealed on his right chest a… (full text at CIViC) PMID 32255239 · Smith et al., 2020 · Open in CIViC	civic
GNAQ Mutation4
Cabozantinib	Uveal Melanoma	Predictive	B	Supports Sensitivity Response	2	accepted	EID5068 Patients with metastatic melanoma (n=77; 48 cutaneous, 23 uveal, 6 mucosal) were enrolled in a phase II randomised discontinuation trial assessing cabozantinib. Patients received 100 mg cabozantinib d… (full text at CIViC) PMID 28103611 ·

Cohorts

Alteration frequency by cohort (35)

Frequency = cases affected / cases profiled within one cohort. Cohorts are never pooled.

cbioportalObserved35 cohort rows · frequency = affected / profiled, as published by each cohort; cohorts are not pooled. Hover a row badge for its release.

Cohort	Mapped cancer	Alteration	Affected (n)	Profiled (n)	Frequency (%)	Rank in cohort	Source
Uveal Melanoma (TCGA, PanCancer Atlas) uvm_tcga_pan_can_atlas_2018	Uveal Melanoma	Ssm

Literature

Linked publications (7)

25 per page, newest first.

pubmedPublishedShowing 1–7 of 7 publications · bibliographic data as recorded by PubMed; abstracts are not reproduced.

Effect of selumetinib vs chemotherapy on progression-free survival in uveal melanoma: a randomized clinical trial.
· JAMA · 2014 · PMID 24938562 · validated civic_curation pubmed
Phase II randomised discontinuation trial of the MET/VEGF receptor inhibitor cabozantinib in metastatic melanoma.
· Br J Cancer · 2017 · PMID 28103611 · validated civic_curation pubmed
Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial.
· Lancet Oncol · 2012 · PMID 22805292 · validated civic_curation pubmed
Multicenter phase I trial of the mitogen-activated protein kinase 1/2 inhibitor BAY 86-9766 in patients with advanced cancer.
· Clin Cancer Res · 2013 · PMID 23434733 · validated

GNAQ Q209P2
PLX4720	Cutaneous MelanomaALIAS	Predictive	D	Supports Resistance	3	accepted	EID1537 Cells were derived from a 26-year old patient with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma (designated 20 092 cells). Five of his metastases evaluated using whole genome sequenci… (full text at CIViC) PMID 24504448 · Turajlic et al., 2014 · Open in CIViC	civic
Vemurafenib	Cutaneous MelanomaALIAS	Predictive	C	Supports Resistance	2	accepted	EID1533 A 26-year old patient presented with vemurafenib resistant BRAF-mutated (V600E) cutaneous melanoma. Five of his metastases were evaluated using whole genome sequencing. A GNAQ (Q209P) mutation was ide… (full text at CIViC) PMID 24504448 · Turajlic et al., 2014 · Open in CIViC	civic

GNAQ Q2092
Refametinib	Uveal Melanoma	Predictive	C	Supports Sensitivity Response	2	accepted	EID1233 Phase 1 study of MAPK1/2 inhibitor BAY 86-9766. 53 patients were evaluated for efficacy, one patients achieved a PR and 11 patients had stable disease. One ocular melanoma patient with prolonged stabl… (full text at CIViC) PMID 23434733 · Weekes et al., 2013 · Open in CIViC	civic
Selumetinib	Uveal Melanoma	Predictive	B	Does Not Support Sensitivity Response	3	accepted	EID1213 101 patients with metastatic uveal melanoma were randomized 1:1 to receive selumetinib or chemotherapy. Median PFS among patients randomized to chemotherapy was 7 weeks (95% CI, 4.3-8.4 weeks; median … (full text at CIViC) PMID 24938562 · Carvajal et al., 2014 · Open in CIViC	civic