ArticleBritish journal of cancer2017
GNAQ and GNA11 mutations and downstream YAP activation in choroidal nevi.
Article in British journal of cancer, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 101 citations in OpenAlex.
- Uveal melanoma: ESMO-EURACAN Clinical Practice Guideline for diagnosis, treatment and follow-up.ESMO open · 2026Guideline
- Functional validation of driver mutation-specific uveal melanoma biomarkers: role of COL9A3 in cancer cell plasticity.The Journal of pathology · 2026Article
- From Somatic Driver to Molecular Therapy in Retinal, Choroidal and Periocular Vascular Disease: Mosaicism, Targetable Pathways and Ocular Toxicity.International journal of molecular sciences · 2026Review
- Uveal melanoma: A review of current treatment limitations and the emerging therapeutic potential of natural killer cells.The Journal of investigative dermatology · 2026Review
- GDF15 Reprograms the Microenvironment to Drive Liver Metastasis of Uveal Melanoma.Cancer research · 2026Article
- Recent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma.Melanoma research · 2026Review
- The latestExpert opinion on drug discovery · 2026Review
- Identification of targetable epigenetic vulnerabilities for uveal melanoma.Cell death & disease · 2025Article
- Early genetic evolution of driver mutations in uveal melanoma.Nature communications · 2025Article
- Uveal Melanocytoma without GNAQ/GNA11 Mutations.Ocular oncology and pathology · 2025Article
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- Co-isolation of human donor eye cells and development of oncogene-mutated melanocytes to study uveal melanoma.BMC biology · 2025Article
- Actionable Gene Alterations Identified in Patients With Malignant Melanoma by Targeted Sequencing in Japan.JCO precision oncology · 2025Article
- Role of miRNA in adult ocular tumorigenesis.Frontiers in molecular biosciences · 2025Review
- GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.Cancers · 2024Review
- Review
- Impact of Driver Mutations on Metastasis-Free Survival in Uveal Melanoma: A Meta-Analysis.Cancers · 2024Review
- GZ17-6.02 kills PDX isolates of uveal melanoma.Oncotarget · 2024Article
- The Impact of Mutational Hotspots on Cancer Survival.Cancers · 2024Article
- Expression of GNAQ, BAP1, SF3B1, and EIF1AX Proteins in the Aqueous Humor of Eyes Affected by Uveal Melanoma.Investigative ophthalmology & visual science · 2024Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in GNAQ/11 genes are considered an early event in the development of uveal melanoma that may derive from a pre-existing nevus. The Hippo pathway, by way of YAP activation, rather than MAP kinase, has a role in the oncogenic capacity of GNAQ/11 mutations.
methodsWe investigated 16 nevi from 13 human eyes for driver GNAQ/11 mutations using droplet digital PCR and determined whether nevi are clonal by quantifying mutant nevus cell fractions. Immunohistochemistry was performed on 15 nevi to analyse YAP activation.
resultsFor 15 out of 16 nevi, a GNAQ/11 mutation was detected in the nevus cells albeit at a low frequency with a median of 13%. Nuclear YAP, a transcriptional co-activator in the Hippo tumour-suppressor pathway, was detected in 14/15 nevi.
conclusionsOur analysis suggests that a mutation in GNAQ/11 occurs in a subset of choroidal nevus cells. We hypothesise that GNAQ/11 mutant-driven extracellular mitogenic signalling involving YAP activation leads to accumulation of wild-type nevus cells.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.