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Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis
Lambert Busque1, Jay P Patel, Maria E Figueroa
1Research 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.
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