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Nat Genet. 2012 Nov;44(11):1179-81. doi: 10.1038/ng.2413. Epub 2012 Sep 23.

Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.

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1
Research Centre, Maisonneuve-Rosemont Hospital, Montreal, Quebec, Canada. lbusque.hmr@ssss.gouv.qc.ca

Abstract

Aging is characterized by clonal expansion of myeloid-biased hematopoietic stem cells and by increased risk of myeloid malignancies. Exome sequencing of three elderly females with clonal hematopoiesis, demonstrated by X-inactivation analysis, identified somatic TET2 mutations. Recurrence testing identified TET2 mutations in 10 out of 182 individuals with X-inactivation skewing. TET2 mutations were specific to individuals with clonal hematopoiesis without hematological malignancies and were associated with alterations in DNA methylation.

PMID:
23001125
PMCID:
PMC3483435
DOI:
10.1038/ng.2413
[Indexed for MEDLINE]
Free PMC Article
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