title: Recurrent somatic TET2 mutations in normal elderly individuals with clonal hematopoiesis.
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.
authors.affiliation: Research Centre, Maisonneuve-Rosemont Hospital, Montreal, Quebec, Canada. lbusque.hmr@ssss.gouv.qc.ca
authors.forename: Lambert
authors.initials: L
authors.lastname: Busque
authors.forename: Jay P
authors.initials: JP
authors.lastname: Patel
authors.forename: Maria E
authors.initials: ME
authors.lastname: Figueroa
authors.forename: Aparna
authors.initials: A
authors.lastname: Vasanthakumar
authors.forename: Sylvie
authors.initials: S
authors.lastname: Provost
authors.forename: Zineb
authors.initials: Z
authors.lastname: Hamilou
authors.forename: Luigina
authors.initials: L
authors.lastname: Mollica
authors.forename: Juan
authors.initials: J
authors.lastname: Li
authors.forename: Agnes
authors.initials: A
authors.lastname: Viale
authors.forename: Adriana
authors.initials: A
authors.lastname: Heguy
authors.forename: Maryam
authors.initials: M
authors.lastname: Hassimi
authors.forename: Nicholas
authors.initials: N
authors.lastname: Socci
authors.forename: Parva K
authors.initials: PK
authors.lastname: Bhatt
authors.forename: Mithat
authors.initials: M
authors.lastname: Gonen
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Mason
authors.forename: Ari
authors.initials: A
authors.lastname: Melnick
authors.forename: Lucy A
authors.initials: LA
authors.lastname: Godley
authors.forename: Cameron W
authors.initials: CW
authors.lastname: Brennan
authors.forename: Omar
authors.initials: O
authors.lastname: Abdel-Wahab
authors.forename: Ross L
authors.initials: RL
authors.lastname: Levine
mesh_terms: D044503:5-Methylcytosine / Q000378:metabolism; D000375:Aging / Q000235:genetics*; D019175:DNA Methylation / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D049308:Dioxygenases; D059472:Exome; D005260:Female; D006410:Hematopoiesis; D006801:Humans; D011518:Proto-Oncogene Proteins / Q000235:genetics / Q000378:metabolism; D049951:X Chromosome Inactivation
chemical_list: D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D044503:5-Methylcytosine; D049308:Dioxygenases; C541081:TET2 protein, human