Somatic<i>SF3B1</i>Mutation in Myelodysplasia with Ring Sideroblasts

Papaemmanuil, Elli; Cazzola, Mario; Boultwood, Jacqueline; Malcovati, Luca; Vyas, Paresh; Bowen, David; Pellagatti, Andrea; S. Wainscoat, James; Hellström‐Lindberg, Eva; Gambacorti‐Passerini, Carlo; L. Godfrey, Anna; Rapado, Inmaculada; Cvejic, Ana; Rance, Richard; McGee, Chris; Ellis, Peter; Mudie, Laura; J. Stephens, Philip; McLaren, Stuart; Massie, Charles; Tarpey, Patrick; Varela, Ignacio; Nik‐Zainal, Serena; Davies, Helen; Shlien, Adam; Jones, David; Raine, Keiran; Hinton, Jonathan; P. Butler, Adam; W. Teague, Jon; Joanna Baxter, E.; Score, J; Gallì, Anna; Giovanni Della Porta, Matteo; Travaglino, Erica; J. Groves, Michael; Tauro, Sudhir; C. Munshi, Nikhil; Anderson, Kristina; K. El‐Naggar, Adel; Fischer, Andrej; Mustonen, Ville; J. Warren, Alan; C.P. Cross, Nicholas; R. Green, Anthony; Andrew Futreal, P.; R. Stratton, Michael; J. Campbell, Peter

doi:10.1056/nejmoa1103283

Public

SomaticSF3B1Mutation in Myelodysplasia with Ring Sideroblasts

Published in New England Journal of Medicine • Sep 26, 2011

Authors:

Elli Papaemmanuil

Mario Cazzola

Jacqueline Boultwood

Abstract

BACKGROUND: Myelodysplastic syndromes are a diverse and common group of chronic hematologic cancers. The identification of new genetic lesions could facilitate new diagnostic and therapeutic strategies. METHODS: We used massively parallel sequencing technology to identify somatically acquired point ...

Subject

Myelodysplastic syndromes

RNA splicing

Point mutation

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