Somatic <i>CALR</i> Mutations in Myeloproliferative Neoplasms with Nonmutated <i>JAK2</i>

Nangalia, Jyoti; Massie, Charles; Joanna Baxter, E.; Nice, Francesca; Gundem, Gunes; C. Wedge, David; Avezov, Edward; Li, J.; Kollmann, Karoline; G. Kent, David; Aziz, Aziz; L. Godfrey, Anna; Hinton, Jonathan; Martincorena, Iñigo; Van Loo, Peter; V. Jones, Amy; Guglielmelli, Paola; Tarpey, Patrick; P. Harding, Heather; D. Fitzpatrick, John; T Goudie, Calum; A. Ortmann, Christina; J. Loughran, Stephen; Raine, Keiran; Jones, Daniel; P. Butler, Adam; W. Teague, Jon; O’Meara, Sarah; McLaren, Stuart; Leonardo Bianchi, Michele; Silber, Yvonne; Dimitropoulou, D.; Bloxham, David; Mudie, Laura; Maddison, Mark; Robinson, Ben; Keohane, Clodagh; MacLean, Cathy; Hill, Kate; Orchard, Kim; Raina Tauro, Sheral; Du, Ming‐Qing; Greaves, Mel; Bowen, David; J.P. Huntly, Brian; Harrison, Claire; C.P. Cross, Nicholas; Ron, David; M. Vannucchi, Alessandro; Papaemmanuil, Elli; J. Campbell, Peter; R. Green, Anthony

doi:10.1056/nejmoa1312542

Public

Somatic CALR Mutations in Myeloproliferative Neoplasms with Nonmutated JAK2

Published in New England Journal of Medicine • Dec 10, 2013

Authors:

Jyoti Nangalia

Charles Massie

E. Joanna Baxter

Abstract

BACKGROUND: Somatic mutations in the Janus kinase 2 gene (JAK2) occur in many myeloproliferative neoplasms, but the molecular pathogenesis of myeloproliferative neoplasms with nonmutated JAK2 is obscure, and the diagnosis of these neoplasms remains a challenge. METHODS: We performed exome sequencing...

Subject

Calreticulin

Myelofibrosis

Essential thrombocythemia

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