Ontology highlight
ABSTRACT:
SUBMITTER: Busque L
PROVIDER: S-EPMC3483435 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Busque Lambert L Patel Jay P JP Figueroa Maria E ME Vasanthakumar Aparna A Provost Sylvie S Hamilou Zineb Z Mollica Luigina L Li Juan J Viale Agnes A Heguy Adriana A Hassimi Maryam M Socci Nicholas N Bhatt Parva K PK Gonen Mithat M Mason Christopher E CE Melnick Ari A Godley Lucy A LA Brennan Cameron W CW Abdel-Wahab Omar O Levine Ross L RL
Nature genetics 20120923 11
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 assoc ...[more]