Submitted by jup2017 on November 13, 2017 - 3:04pm
Title | Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Busque, 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. |
Journal | Nat Genet |
Volume | 44 |
Issue | 11 |
Pagination | 1179-81 |
Date Published | 2012 Nov |
ISSN | 1546-1718 |
Keywords | 5-Methylcytosine, Aging, Dioxygenases, DNA Methylation, DNA-Binding Proteins, Exome, Female, Hematopoiesis, Humans, Proto-Oncogene Proteins, X Chromosome Inactivation |
Abstract | <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> |
DOI | 10.1038/ng.2413 |
Alternate Journal | Nat Genet |
PubMed ID | 23001125 |
PubMed Central ID | PMC3483435 |
Grant List | U54 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 |