Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms

2016263 citationsJournal Articlebronze Open Access

Authors

David A. Hinds · 23andMe (United States)

Kimberly E. Barnholt · 23andMe (United States)

Ruben A. Mesa · Mayo Clinic in Arizona

Amy K. Kiefer · 23andMe (United States)

Chuong B. Do · 23andMe (United States)

Nicholas Eriksson · 23andMe (United States)

Joanna L. Mountain ·

Abstract

Key Points Germ line variants in TERT, SH2B3, TET2, ATM, CHEK2, PINT, and GFI1B are associated with JAK2 V617F clonal hematopoiesis and MPNs. Age-related JAK2 V617F clonal hematopoiesis is found in ∼2 out of 1000 individuals in the general population.

Topics & Keywords

Myeloproliferative Neoplasms: Diagnosis and Treatment Kruppel-like factors research Eosinophilic Disorders and Syndromes

UN Sustainable Development Goals

Life in Land

Publication Details

Published in: Blood

Volume 128, Issue 8, pp. 1121-1128

DOI: 10.1182/blood-2015-06-652941

Field-Weighted Citation Impact: 23.39