Journal
NATURE GENETICS
Volume 44, Issue 11, Pages 1179-1181Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2413
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Funding
- National Cancer Institute Physical Sciences Oncology Center [U54CA143798-01]
- National Cancer Institute [1R01CA129831, 1R01CA129831-03S1]
- US National Institutes of Health
- Leukemia and Lymphoma Society
- Doris Duke Charitable Foundation
- Sackler Center for Biomedical and Physical Sciences
- Howard Hughes Medical Institute
- [1R01CA138234-01]
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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.
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