ArticleNature genetics2013
Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 300 papers, 1 of them a synthesis that pooled it.
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Who cites it
300 citing papers in PubMed, 1 synthesis or guideline pooled it, 524 citations in OpenAlex.
- Immunotherapy for ocular melanoma: a bibliometric and visualization analysis from 1991 to 2022.Frontiers in oncology · 2023Pooled it
- Clinical and molecular response to tebentafusp in previously treated patients with metastatic uveal melanoma: a phase 2 trial.Nature medicine · 2022Trial
- Establishment of Uveal Melanoma Patient-Derived Organoids Using an Air-Liquid Interface System for Translational Research.Investigative ophthalmology & visual science · 2026Article
- Functional validation of driver mutation-specific uveal melanoma biomarkers: role of COL9A3 in cancer cell plasticity.The Journal of pathology · 2026Article
- Proteogenomic Analysis of HDAC4 and HDAC5 in Uveal Melanoma.Molecular medicine (Cambridge, Mass.) · 2026Article
- αB-crystallin elastin-like polypeptides for sustained ocular drug delivery.Drug delivery and translational research · 2026Article
- Aberrant alternative splicing of purinergic receptor P2RX4 prevents sensitivity towards combinatorial treatment in colorectal and pancreatic cancer.The Journal of pathology · 2026Article
- Uveal melanoma: A review of current treatment limitations and the emerging therapeutic potential of natural killer cells.The Journal of investigative dermatology · 2026Review
- Deep Learning and Experimental Validation of BRCA1-Associated Protein-1 Missense Variant Pathogenicity in Uveal Melanoma.Ophthalmology science · 2026Article
- Recent advances in the molecular genetic mechanisms and immune microenvironment of uveal melanoma.Melanoma research · 2026Review
- Metastasis-related genomic aberrations and evolutionary trajectory in uveal melanoma.Experimental & molecular medicine · 2026Article
- Spliceosomal mutation drives melanoma tumorigenesis via lineage-specific RAS activation.Science advances · 2026Article
- Uveal Melanoma: Biology, Prognostication, and Emerging Therapies to Outsmart an Immune-Cold Melanoma.Cancers · 2026Review
- Clinical Molecular Pathology and Treatment Developments in Advanced Uveal Melanoma: State of the Art.Oncology research · 2026Review
- Modeling rare melanoma subtypes: mechanisms, microenvironments and translational opportunities.Frontiers in oncology · 2026Review
- Early genetic evolution of driver mutations in uveal melanoma.Nature communications · 2025Article
- Identification of targetable epigenetic vulnerabilities for uveal melanoma.Cell death & disease · 2025Article
- Methylated CfDNA may distinguish between high- and intermediate-risk uveal melanoma: a pilot study.Cancer cell international · 2025Article
- Exploring p53 isoforms: unraveling heterogeneous p53 tumor suppressor functionality in uveal melanoma.Cell death discovery · 2025Article
- Article
240 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
Abstract
Gene expression profiles and chromosome 3 copy number divide uveal melanomas into two distinct classes correlating with prognosis. Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize. Targeted resequencing showed that 24 of 31 tumors with disomy 3 (77%) had mutations in either EIF1AX (15; 48%) or SF3B1 (9; 29%). Mutations were infrequent (2/35; 5.7%) in uveal melanomas with monosomy 3, which are associated with poor prognosis. Resequencing of 13 uveal melanomas with partial monosomy 3 identified 8 tumors with a mutation in either SF3B1 (7; 54%) or EIF1AX (1; 8%). All EIF1AX mutations caused in-frame changes affecting the N terminus of the protein, whereas 17 of 19 SF3B1 mutations encoded an alteration of Arg625. Resequencing of ten uveal melanomas with disomy 3 that developed metastases identified SF3B1 mutations in three tumors, none of which targeted Arg625.
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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.