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Nat Genet. 2010 Aug;42(8):665-7. doi: 10.1038/ng.620. Epub 2010 Jul 4.

Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes.

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  • 1Department of Laboratory Medicine, Radboud University, Nijmegen Medical Centre, Nijmegen, The Netherlands.


In myelodysplastic syndromes (MDS), deletions of chromosome 7 or 7q are common and correlate with a poor prognosis. The relevant genes on chromosome 7 are unknown. We report here that EZH2, located at 7q36.1, is frequently targeted in MDS. Analysis of EZH2 deletions, missense and frameshift mutations strongly suggests that EZH2 is a tumor suppressor. As EZH2 functions as a histone methyltransferase, abnormal histone modification may contribute to epigenetic deregulation in MDS.

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