ArticleBMC cancer2021
Involvement of mutant and wild-type CYSLTR2 in the development and progression of uveal nevi and melanoma.
Article in BMC cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Does the ERBB/EGF Signaling Network Serve as a Nexus for Oncogenic Signals in Uveal Melanoma?Biomolecules · 2026Review
- Gene therapy for uveal melanoma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Precision Oncology in Ocular Melanoma: Integrating Molecular and Liquid Biopsy Biomarkers.Current issues in molecular biology · 2026Review
- Montelukast as a novel therapeutic approach in metastatic uveal melanoma harboring a CYSLTR2 mutation: a translational case report.ESMO open · 2026Article
- Uveal Melanocytoma without GNAQ/GNA11 Mutations.Ocular oncology and pathology · 2025Article
- Co-occurrence ofAmerican journal of ophthalmology case reports · 2025Article
- Digital PCR-based genetic profiling from vitreous fluid as liquid biopsy for primary uveal melanoma: a proof-of-concept study.Journal of experimental & clinical cancer research : CR · 2025Article
- 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
- Genetic Features of Uveal Melanoma.Genes · 2024Review
- Systems modeling of oncogenic G-protein and GPCR signaling reveals unexpected differences in downstream pathway activation.NPJ systems biology and applications · 2024Article
- Review
- Genetics and RNA Regulation of Uveal Melanoma.Cancers · 2023Review
- MITF in Normal Melanocytes, Cutaneous and Uveal Melanoma: A Delicate Balance.International journal of molecular sciences · 2022Review
- Prognostic Biomarkers in Uveal Melanoma: The Status Quo, Recent Advances and Future Directions.Cancers · 2021Review
- Scientific and clinical implications of genetic and cellular heterogeneity in uveal melanoma.Molecular biomedicine · 2021Review
- Article
- Estimation of the timing of BAP1 mutation in uveal melanoma progression.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
backgroundActivating Gα
methodsWe performed a digital PCR-based molecular analysis of benign choroidal nevi and primary uveal melanomas. Publicly available bulk and single cell sequencing data were mined to further study mutant and wild-type CYSLTR2 in primary and metastatic uveal melanoma.
results1/16 nevi and 2/120 melanomas carried the CYSLTR2 mutation. The mutation was found in a subpopulation of the nevus, while being clonal in both melanomas. In the melanomas, secondary, subclonal CYSLTR2 alterations shifted the allelic balance towards the mutant. The resulting genetic heterogeneity was confirmed in distinct areas of both tumours. At the RNA level, further silencing of wild-type and preferential expression of mutant CYSLTR2 was identified, which was also observed in two CYSLTR2 mutant primary melanomas and one metastatic lesion from other cohorts. In CYSLTR2 wild-type melanomas, high expression of CYSLTR2 correlated to tumour inflammation, but expression originated from melanoma cells specifically.
conclusionsOur findings suggest that CYSLTR2 is involved in both early and late development of uveal melanoma. Whereas the CYSLTR2 p.L129Q mutation is likely to be the initiating oncogenic event, various mechanisms further increase the mutant allele abundance during tumour progression. This makes mutant CysLT
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