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Article

Chromosomal rearrangements in uveal melanoma: Chromothripsis.

Genes, chromosomes & cancer - 1 Sept 2018

van Poppelen Natasha M, Yavuzyigitoglu Serdar, Smit Kyra N, Vaarwater Jolanda, Eussen Bert, Brands Tom, Paridaens Dion, Kiliç Emine, de Klein Annelies

Abstract excerpt

Uveal melanoma (UM) is the most common primary intraocular malignancy in the Western world. Recurrent mutations in GNAQ, GNA11, CYSLTR2, PLCB4, BAP1, EIF1AX, and SF3B1 are described as well as non-random chromosomal aberrations. Chromothripsis is a rare event in which chromosomes are shattered and rearranged and has been reported in a variety of cancers including UM. SNP arrays of 249 UM from patients who...

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Source

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Identifiers

PMID: 29726589
DOI: 10.1002/gcc.4
PMCID: PMC6175119

Genes

BAP1
GNA11
GNAQ
CYSLTR2
PLCB4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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