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Article

Recurrent somatic mutations in POLR2A define a distinct subset of meningiomas.

Nature genetics - 1 Oct 2016

Clark Victoria E, Harmancı Akdes Serin, Bai Hanwen, Youngblood Mark W, Lee Tong Ihn, Baranoski Jacob F, Ercan-Sencicek A Gulhan, Abraham Brian J, Weintraub Abraham S, Hnisz Denes, Simon Matthias, Krischek Boris, Erson-Omay E Zeynep, Henegariu Octavian, Carrión-Grant Geneive, Mishra-Gorur Ketu, Durán Daniel, Goldmann Johanna E, Schramm Johannes, Goldbrunner Roland, Piepmeier Joseph M, Vortmeyer Alexander O, Günel Jennifer Moliterno, Bilgüvar Kaya, Yasuno Katsuhito, Young Richard A, Günel Murat

Abstract excerpt

RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells, a process that is fundamental to life. Genomic mutations altering this enzyme have not previously been linked to any pathology in humans, which is a testament to its indispensable role in cell biology. On the basis of a combination of next-generation genomic analyses of 775 meningiomas, we report that recurrent somatic...

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Source

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Identifiers

PMID: 27548314
DOI: 10.1038/ng.3651
PMCID: PMC5114141

Genes

AKT1
AKT3
KLF4
SMARCB1
SMO
SUFU
TRAF7
WNT6
ZIC1
ZIC4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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