TitleRecurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.
Publication TypeJournal Article
Year of Publication2012
AuthorsBusque, Lambert, Patel Jay P., Figueroa Maria E., Vasanthakumar Aparna, Provost Sylvie, Hamilou Zineb, Mollica Luigina, Li Juan, Viale Agnes, Heguy Adriana, Hassimi Maryam, Socci Nicholas, Bhatt Parva K., Gönen Mithat, Mason Christopher E., Melnick Ari, Godley Lucy A., Brennan Cameron W., Abdel-Wahab Omar, and Levine Ross L.
JournalNat Genet
Date Published2012 Nov
Keywords5-Methylcytosine, Aging, Dioxygenases, DNA Methylation, DNA-Binding Proteins, Exome, Female, Hematopoiesis, Humans, Proto-Oncogene Proteins, X Chromosome Inactivation

<p>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.</p>

Alternate JournalNat Genet
PubMed ID23001125
PubMed Central IDPMC3483435
Grant ListU54 CA143798 / CA / NCI NIH HHS / United States
R01 CA129831 / CA / NCI NIH HHS / United States
/ HHMI / Howard Hughes Medical Institute / United States
1R01CA129831-03S1 / CA / NCI NIH HHS / United States
1R01CA138234-01 / CA / NCI NIH HHS / United States
F32 DK092030 / DK / NIDDK NIH HHS / United States
1R01CA129831 / CA / NCI NIH HHS / United States
R01 CA138234 / CA / NCI NIH HHS / United States
U54CA143798-01 / CA / NCI NIH HHS / United States