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Article

Somatic mutations of DICER1 and KMT2D are frequent in intraocular medulloepitheliomas.

Genes, chromosomes & cancer - 1 May 2016

Sahm Felix, Jakobiec Frederick A, Meyer Jochen, Schrimpf Daniel, Eberhart Charles G, Hovestadt Volker, Capper David, Lambo Sander, Ryzhova Marina, Schüller Ulrich, Zheludkova Olga, Kumirova Ella, Lichter Peter, von Deimling Andreas, Jones David T W, Pfister Stefan M, Kool Marcel, Korshunov Andrey

Abstract excerpt

Intraocular medulloepithelioma (IO-MEPL) is an uncommon embryonal neuroepithelial neoplasm of the eye. Little is known about the cytogenetics, molecular biology, and pathogenesis of this tumor. In the present study we investigated the mutational landscape of 19 IO-MEPL using targeted next-generation sequencing. Routinely prepared paraffin-embedded samples were assessed with high-coverage genome sequencing on the...

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Source

Identifiers

PMID: 26841698
DOI: 10.1002/gcc.22344

Genes

DICER1
BRCA1
BRCA2
CDH1
GSE1
NOTCH2

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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