ArticleInvestigative ophthalmology & visual science2008
Oncogenic mutations in GNAQ occur early in uveal melanoma.
Article in Investigative ophthalmology & visual science, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 178 papers.
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178 citing papers in PubMed, 345 citations in OpenAlex.
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- 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
- A Phase II Trial of Defactinib Combined with Avutometinib in Patients with Metastatic Uveal Melanoma.Cancers · 2026Article
- The SCD1 inhibitor aramchol interacts with regorafenib and metformin to kill tumor cells.Oncotarget · 2026Article
- Early genetic evolution of driver mutations in uveal melanoma.Nature communications · 2025Article
- Identification of targetable epigenetic vulnerabilities for uveal melanoma.Cell death & disease · 2025Article
- Functions and clinical implications of the liver microenvironment in hepatic uveal melanoma metastases.Cancer metastasis reviews · 2025Review
- Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology.International journal of molecular sciences · 2025Review
- Investigation of growth traits in Turkish Merino lambs using multi-locus GWAS approaches: Karacabey Merino.BMC veterinary research · 2025Article
- The thiazolidinedione drug troglitazone inhibits Gq signaling through direct binding to the Gq alpha subunit through inhibition of GDP release.Molecular pharmacology · 2025Article
- Super-enhancers orchestrate transcriptional dysregulation and metabolic reprogramming in uveal melanoma.Communications biology · 2025Article
- The guanine nucleotide exchange factor Ric-8A regulates the sensitivity of constitutively active Gαq to the inhibitor YM-254890.The Journal of biological chemistry · 2025Article
- Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.Pigment cell & melanoma research · 2025Article
- Uveal Melanoma: Comprehensive Review of Its Pathophysiology, Diagnosis, Treatment, and Future Perspectives.Biomedicines · 2024Review
- 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
- Pathological and Molecular Diagnosis of Uveal Melanoma.Diagnostics (Basel, Switzerland) · 2024Review
- From Molecular Biology to Novel Immunotherapies and Nanomedicine in Uveal Melanoma.Current oncology (Toronto, Ont.) · 2024Review
- Mass Spectrometry-Based Profiling of Histone Post-Translational Modifications in Uveal Melanoma Tissues, Human Melanocytes, and Uveal Melanoma Cell Lines - A Pilot Study.Investigative ophthalmology & visual science · 2024Article
118 more citing papers are in PubMed but not listed here.
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
purposeEarly/initiating oncogenic mutations have been identified for many cancers, but such mutations remain unidentified in uveal melanoma (UM). An extensive search for such mutations was undertaken, focusing on the RAF/MEK/ERK pathway, which is often the target of initiating mutations in other types of cancer.
methodsDNA samples from primary UMs were analyzed for mutations in 24 potential oncogenes that affect the RAF/MEK/ERK pathway. For GNAQ, a stimulatory alpha(q) G-protein subunit which was recently found to be mutated in UMs, resequencing was expanded to include 67 primary UMs and 22 peripheral blood samples. GNAQ status was analyzed for association with clinical, pathologic, chromosomal, immunohistochemical, and transcriptional features.
resultsActivating 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. No mutations were found in the other 23 potential oncogenes. GNAQ mutations were not found in normal blood DNA samples. Consistent with GNAQ mutation being an early or initiating event, this mutation was not associated with any clinical, pathologic, or molecular features associated with late tumor progression.
conclusionsGNAQ mutations occur in about half of UMs, representing the most common known oncogenic mutation in this cancer. The presence of this mutation in tumors at all stages of malignant progression suggests that it is an early event in UM. Mutations in this G-protein-coupled receptor provide new insights into UM pathogenesis and could lead to new therapeutic possibilities.
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