BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders

Damm, Frédérik; Chesnais, Virginie; Nagata, Yasunobu; Yoshida, Kenichi; Scourzic, Laurianne; Okuno, Yusuke; Itzykson, Raphaël; Sanada, Masashi; Shiraishi, Yuichi; Gelsi‐Boyer, Véronique; Renneville, Aline; Miyano, Satoru; Mori, Hiraku; Shih, Lee‐Yung; Park, Sophie; Dreyfus, François; Guerci‐Bresler, Agnès; Solary, Éric; Rosé, Christian; Chèze, Stéphane; Prébet, Thomas; Vey, Norbert; Legentil, Marion; Duffourd, Yannis; de Botton, Stéphane; Preudhomme, Claude; Birnbaum, Daniel; Bernard, Olivier; Ogawa, Seishi; Fontenay, Michaëla; Kosmider, Olivier

doi:10.1182/blood-2012-11-469619

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BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders

Published in Blood • Sep 19, 2013

Authors:

Frédérik Damm

Virginie Chesnais

Yasunobu Nagata

Abstract

Patients with low-risk myelodysplastic syndromes (MDS) that rapidly progress to acute myeloid leukemia (AML) remain a challenge in disease management. Using whole-exome sequencing of an MDS patient, we identified a somatic mutation in the BCOR gene also mutated in AML. Sequencing of BCOR and related...

Subject

Myelodysplastic syndromes

Mutation

Genetics

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