Department of Biology Faculty of Medicine and Dentistry Palacky University Olomouc Czech Republic

Department of Biology Faculty of Medicine Masaryk University Brno Czech Republic; and

Department of Cell and Developmental Biology Institute of Molecular Genetics Academy of Sciences of the Czech Republic Prague Czech Republic

Department of Pathophysiology and 1st Department of Medicine 1st Faculty of Medicine Charles University Prague Czech Republic

Division of Hematology University of Utah School of Medicine Salt Lake City UT

George E Wahlen Department of Veterans Affairs Medical Center Salt Lake City UT

Human Genome Sequencing Center Baylor College of Medicine Houston TX

See more in PubMed

Tefferi A, Pardanani A. Myeloproliferative neoplasms: a contemporary review. JAMA Oncol. 2015;1(1):97–105. PubMed

Delhommeau F, Dupont S, Della Valle V, et al. Mutation in TET2 in myeloid cancers. N Engl J Med. 2009;360(22):2289–2301. PubMed

Schaub FX, Looser R, Li S, et al. Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms. Blood. 2010;115(10):2003–2007. PubMed

Wang L, Swierczek SI, Drummond J, et al. Whole-exome sequencing of polycythemia vera revealed novel driver genes and somatic mutation shared by T cells and granulocytes. Leukemia. 2014;28(4):935–938. PubMed PMC

Ortmann CA, Kent DG, Nangalia J, et al. Effect of mutation order on myeloproliferative neoplasms. N Engl J Med. 2015;372(7):601–612. PubMed PMC

Nussenzveig RH, Swierczek SI, Jelinek J, et al. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007;35(1):32.e1–32.e9. PubMed

Kralovics R, Teo SS, Li S, et al. Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders. Blood. 2006;108(4):1377–1380. PubMed

Wang L, Swierczek SI, Lanikova L, et al. The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 2014;28(4):938–941. PubMed PMC

Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(7):1073–1081. PubMed

Tavtigian SV, Deffenbaugh AM, Yin L, et al. Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet. 2006;43(4):295–305. PubMed PMC

Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res. 2002;30(17):3894–3900. PubMed PMC

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–362. PubMed

Wallweber HJ, Tam C, Franke Y, Starovasnik MA, Lupardus PJ. Structural basis of recognition of interferon-α receptor by tyrosine kinase 2. Nat Struct Mol Biol. 2014;21(5):443–448. PubMed PMC

Ma L, Clayton JR, Walgren RA, et al. Discovery and characterization of LY2784544, a small-molecule tyrosine kinase inhibitor of JAK2V617F. Blood Cancer J. 2013;3:e109. PubMed PMC

Levine RL, Wadleigh M, Cools J, et al. Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis. Cancer Cell. 2005;7(4):387–397. PubMed

Etheridge SL, Cosgrove ME, Sangkhae V, et al. A novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis. Blood. 2014;123(7):1059–1068. PubMed

Marty C, Saint-Martin C, Pecquet C, et al. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors. Blood. 2014;123(9):1372–1383. PubMed

Mead AJ, Rugless MJ, Jacobsen SE, Schuh A. Germline JAK2 mutation in a family with hereditary thrombocytosis. N Engl J Med. 2012;366(10):967–969. PubMed

Kapralova K, Horvathova M, Pecquet C, et al. Cooperation of germline JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia. Blood. 2016;128(10):1418–1423. PubMed

Zhao L, Ma Y, Seemann J, Huang LJ. A regulating role of the JAK2 FERM domain in hyperactivation of JAK2(V617F). Biochem J. 2010;426(1):91–98. PubMed PMC

Funakoshi-Tago M, Pelletier S, Moritake H, Parganas E, Ihle JN. Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity. Mol Cell Biol. 2008;28(5):1792–1801. PubMed PMC

Witzig TE, Price-Troska TL, Stenson MJ, Gupta M. Lack of JAK2 activating non-synonymous mutations in diffuse large B-cell tumors: JAK2 deregulation still unexplained. Leuk Lymphoma. 2013;54(2):397–399. PubMed PMC

Hudson AM, Yates T, Li Y, et al. Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery. Cancer Res. 2014;74(22):6390–6396. PubMed PMC

Olcaydu D, Harutyunyan A, Jäger R, et al. A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms. Nat Genet. 2009;41(4):450–454. PubMed

Pearse RN, Feinman R, Ravetch JV. Characterization of the promoter of the human gene encoding the high-affinity IgG receptor: transcriptional induction by gamma-interferon is mediated through common DNA response elements. Proc Natl Acad Sci USA. 1991;88(24):11305–11309. PubMed PMC

A novel germline hyperactivating JAK2 mutation L604F

Experimental Modeling of Myeloproliferative Neoplasms