Recurrent Somatic TET2 Mutations in Normal Elderly Individuals With Clonal Hematopoiesis

Lambert Busque; Jay P Patel; Maria Figueroa; Aparna Vasanthakumar; Sylvie Provost; Zineb Hamilou; Luigina Mollica; Juan Li; Agnes Viale; Adriana Heguy; Maryam Hassimi; Nicholas Socci; Parva K Bhatt; Mithat Gonen; Christopher E Mason; Ari Melnick; Lucy A Godley; Cameron Brennan; Omar Abdel-Wahab; Ross L Levine

doi:10.1038/ng.2413

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Recurrent Somatic TET2 Mutations in Normal Elderly Individuals With Clonal Hematopoiesis

Journal article

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Recurrent Somatic TET2 Mutations in Normal Elderly Individuals With Clonal Hematopoiesis

Lambert Busque, Jay P Patel, Maria Figueroa, Aparna Vasanthakumar, Sylvie Provost, Zineb Hamilou, Luigina Mollica, Juan Li, Agnes Viale, Adriana Heguy, …

Nature genetics, Vol.44(11), pp.1179-1181

2012-11

DOI: https://doi.org/10.1038/ng.2413

PMCID: PMC3483435

PMID: 23001125

Abstract

clonal hematopoiesis

X-inactivation

skewing

clonality

methylation

TET2

aging

hydroxymethylation

HUMARA

Aging is characterized by clonal expansion of myeloid-biased hematopoietic stem cells and by an increased risk of myeloid malignancies. Exome sequencing of 3 elderly females with clonal hematopoiesis demonstrated by X-inactivation analysis identified somatic TET2 mutations. Recurrence testing found TET2 mutations in 10 out of 182 individuals with X-inactivation skewing. TET2 mutations were specific to individuals with clonal hematopoiesis without hematologic malignancies and were associated with alterations in DNA methylation.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.103 Blood Disorders; 1.103.155 Acute Myeloid Leukemia
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Details

Title: Recurrent Somatic TET2 Mutations in Normal Elderly Individuals With Clonal Hematopoiesis
Creators: Lambert Busque - Research Centre, Maisonneuve-Rosemont Hospital, Montreal, QC H1T 2M4, Canada
Jay P Patel - Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065
Maria Figueroa - Dept. of Pathology, University of Michigan, Ann Arbor, MI 48109
Aparna Vasanthakumar - Section of Hematology/Oncology, Dept. of Medicine, The University of Chicago, Chicago, IL 60637
Sylvie Provost - Montreal Heart Institute, Canada, University of Montreal, Montreal, QC H1T 2M4, Canada
Zineb Hamilou - Dept. of Hematology, Maisonneuve-Rosemont Hospital, Montreal, QC H1T 2M4, Canada
Luigina Mollica - Research Centre, Maisonneuve-Rosemont Hospital, Montreal, QC H1T 2M4, Canada
Juan Li - Genomics Core Laboratory, Memorial Sloan-Kettering Cancer Center, New NY 10065
Agnes Viale - Genomics Core Laboratory, Memorial Sloan-Kettering Cancer Center, New NY 10065
Adriana Heguy - Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065
Maryam Hassimi - Bioinformatics Core, Memorial Sloan-Kettering Cancer Center, New NY 10065
Nicholas Socci - Bioinformatics Core, Memorial Sloan-Kettering Cancer Center, New NY 10065
Parva K Bhatt - Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065
Mithat Gonen - Dept. of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New NY 10065
Christopher E Mason - Computational Biology, Weill Medical College of Cornell University, New York, NY10065
Ari Melnick - Graduate School of Biomedical Sciences, Weill Medical College of Cornell University, New York, NY 10065
Lucy A Godley - Section of Hematology/Oncology, Dept. of Medicine, The University of Chicago, Chicago, IL 60637
Cameron Brennan - Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065
Omar Abdel-Wahab - Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065
Ross L Levine - Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065
Publication Details: Nature genetics, Vol.44(11), pp.1179-1181
Academic Unit: Miller School of Medicine; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 23001125
PMCID: PMC3483435
Record Identifier: 991031600931602976