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

Author:

Hinds David A.1,Barnholt Kimberly E.1,Mesa Ruben A.2,Kiefer Amy K.1,Do Chuong B.1,Eriksson Nicholas1,Mountain Joanna L.1,Francke Uta1,Tung Joyce Y.1,Nguyen Huong (Marie)3,Zhang Haiyu4,Gojenola Linda4,Zehnder James L.45,Gotlib Jason5

Affiliation:

1. 23andMe, Inc, Mountain View, CA;

2. Division of Hematology & Medical Oncology, Mayo Clinic, Scottsdale, AZ;

3. Division of Hematology/Oncology, University of Michigan Comprehensive Cancer Center, Ann Arbor, MI;

4. Department of Pathology, Stanford University School of Medicine, Stanford, CA; and

5. Division of Hematology, Department of Medicine, Stanford University School of Medicine/Stanford Cancer Institute, Stanford, CA

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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

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