ArticleOncotarget2016
Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 180 papers.
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Who cites it
180 citing papers in PubMed, 295 citations in OpenAlex.
- Molecular pathology in the diagnosis of cutaneous melanoma.Pathologie (Heidelberg, Germany) · 2026Review
- Proteomic and Phosphoproteomic Characteristics of Multiple Brain Regions in Rhesus Macaques After SARS-CoV-2 Infection.MedComm · 2026Article
- Does the ERBB/EGF Signaling Network Serve as a Nexus for Oncogenic Signals in Uveal Melanoma?Biomolecules · 2026Review
- Recent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma.Melanoma research · 2026Review
- Splenic hamartoma in two related patients with BAP1 tumour predisposition syndrome caused by a novel germline BAP1 p.(Gly128Arg) missense variant.Familial cancer · 2026Article
- Rare Germline Variants in CDKN2A-Negative Children and Adolescents With Cutaneous Melanoma.Pigment cell & melanoma research · 2026Article
- Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art.Oncology research · 2026Review
- Ephrin Receptors and Ephrin Ligands in Uveal Melanoma: A Big Data Analysis Using Web Resources.International journal of molecular sciences · 2025Article
- Early genetic evolution of driver mutations in uveal melanoma.Nature communications · 2025Article
- Identification of targetable epigenetic vulnerabilities for uveal melanoma.Cell death & disease · 2025Article
- Exploring p53 isoforms: unraveling heterogeneous p53 tumor suppressor functionality in uveal melanoma.Cell death discovery · 2025Article
- Longitudinal ctDNA monitoring in patients with metastatic uveal melanoma undergoing isolated hepatic perfusion in combination with ipilimumab and nivolumab.Immuno-oncology technology · 2025Article
- Uveal Melanocytoma without GNAQ/GNA11 Mutations.Ocular oncology and pathology · 2025Article
- Ocular Melanoma: A Comprehensive Review with a Focus on Molecular Biology.International journal of molecular sciences · 2025Review
- G Protein-Coupled Receptor Signaling: Implications and Therapeutic Development Advances in Cancers.MedComm · 2025Review
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- miRNA-200a suppresses GNAI1 and PLCB4 to modulate skin pigmentation in cashmere goats.Scientific reports · 2025Article
- An overview of BAP1 biological functions and current therapeutics.Biochimica et biophysica acta. Reviews on cancer · 2025Review
- Identification of diagnostic and prognostic genetic alterations in uveal melanoma using RNA sequencing.Scientific reports · 2025Article
- Pathogenic Germline Variants in Uveal Melanoma Driver and BAP1-Associated Genes in Finnish Patients with Uveal Melanoma.Pigment cell & melanoma research · 2025Article
120 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Next generation sequencing of uveal melanoma (UM) samples has identified a number of recurrent oncogenic or loss-of-function mutations in key driver genes including: GNAQ, GNA11, EIF1AX, SF3B1 and BAP1. To search for additional driver mutations in this tumor type we carried out whole-genome or whole-exome sequencing of 28 tumors or primary cell lines. These samples have a low mutation burden, with a mean of 10.6 protein changing mutations per sample (range 0 to 53). As expected for these sun-shielded melanomas the mutation spectrum was not consistent with an ultraviolet radiation signature, instead, a BRCA mutation signature predominated. In addition to mutations in the known UM driver genes, we found a recurrent mutation in PLCB4 (c.G1888T, p.D630Y, NM_000933), which was validated using Sanger sequencing. The identical mutation was also found in published UM sequence data (1 of 56 tumors), supporting its role as a novel driver mutation in UM. PLCB4 p.D630Y mutations are mutually exclusive with mutations in GNA11 and GNAQ, consistent with PLCB4 being the canonical downstream target of the former gene products. Taken together these data suggest that the PLCB4 hotspot mutation is similarly a gain-of-function mutation leading to activation of the same signaling pathway, promoting UM tumorigenesis.
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