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Article

Identification of diagnostic and prognostic genetic alterations in uveal melanoma using RNA sequencing.

Scientific reports - 10 Mar 2025

Nell Rogier J, Versluis Mieke, Cats Davy, Mei Hailiang, Verdijk Robert M, Kroes Wilma G M, Luyten Gregorius P M, Jager Martine J, van der Velden Pieter A

Abstract excerpt

Uveal melanoma is a lethal intraocular tumour, in which the presence of various genetic alterations correlates with the risk of metastatic dissemination and survival. Here, we tested the detectability of all key mutations and chromosomal changes from RNA sequencing data in 80 primary uveal melanomas studied by The Cancer Genome Atlas (TCGA) initiative, and in five prospective cases. Whereas unsupervised gene...

Read the complete abstract on PubMed

Topics

Humans
Uveal Neoplasms
Melanoma
Uveal Melanoma
Male
RNA Splicing Factors

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Female

Ubiquitin Thiolesterase

Prognosis

Mutation

Middle Aged

Polymorphism, Single Nucleotide

Tumor Suppressor Proteins

Sequence Analysis, RNA

Aged

Eukaryotic Initiation Factor-1

Phosphoproteins

DNA Copy Number Variations

Source

Open in PubMed Open full text

Identifiers

PMID: 40059100
DOI: 10.1038/s41598-025-90122-z
PMCID: PMC11891316

Genes

BAP1
EIF1AX
SF3B1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Sept 2026.

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