ArticleOcular oncology and pathology2016
Investigation of Somatic GNAQ, GNA11, BAP1 and SF3B1 Mutations in Ophthalmic Melanocytomas.
Article in Ocular oncology and pathology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 18 citations in OpenAlex.
- Clinical, Imaging, Pathological, and Molecular Details of an Unusual Uveal Melanocytic Tumor of Childhood.Ocular oncology and pathology · 2026Article
- Uveal Melanocytoma without GNAQ/GNA11 Mutations.Ocular oncology and pathology · 2025Article
- GNAQ/GNA11-Related Benign and Malignant Entities-A Common Histoembriologic Origin or a Tissue-Dependent Coincidence.Cancers · 2024Review
- GNAQ mutations drive port wine birthmark-associated Sturge-Weber syndrome: A review of pathobiology, therapies, and current models.Frontiers in human neuroscience · 2022Review
- GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.Ophthalmology · 2019Article
- BRAF, NRAS, and GNAQ Mutations in Conjunctival Melanocytic Nevi.Investigative ophthalmology & visual science · 2018Article
- Focus on cutaneous and uveal melanoma specificities.Genes & development · 2017Review
- Current findings of genetic alterations and associated targeted therapies of conjunctival melanocytic neoplasms.Taiwan journal of ophthalmologyReview
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 1 country.
Funding
Abstract
purposeThe aim of this study was to use massively parallel DNA sequencing to identify GNAQ/11, BAP1 and SF3B1 mutations in ophthalmic melanocytoma. PROCEDURES: Six ophthalmic melanocytoma specimens (1 iridociliary and 5 optic nerve) were profiled for genomic alterations in GNAQ/11, BAP1 and SF3B1 using a custom deep sequencing assay. This assay uses solution phase hybridization-based exon capture and deep-coverage massively parallel DNA sequencing to interrogate all protein-coding exons and select introns.
resultsThe only iridociliary melanocytoma showed a mutation in GNAQ but not in BAP1. Of the 2 optic-nerve melanocytomas that developed into melanoma, one had a GNAQ mutation and both a BAP1 mutation and monosomy 3. The remaining 3 optic-nerve melanocytomas did not reveal mutations in GNAQ/11 or BAP1. SF3B1 mutations were not detected in any specimen.
conclusionsThe presence of GNAQ mutation in some iridociliary and optic-nerve melanocytomas suggests a possible relationship between ophthalmic melanocytoma and other ophthalmic melanocytic neoplasms. BAP1 mutation may accompany the transformation of ophthalmic melanocytoma to melanoma.
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Registered trials
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.