Article
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders.
Blood - 31 Oct 2013
Damm Frederik, Chesnais Virginie, Nagata Yasunobu, Yoshida Kenichi, Scourzic Laurianne, Okuno Yusuke, Itzykson Raphael, Sanada Masashi, Shiraishi Yuichi, Gelsi-Boyer Véronique, Renneville Aline, Miyano Satoru, Mori Hiraku, Shih Lee-Yung, Park Sophie, Dreyfus François, Guerci-Bresler Agnes, Solary Eric, Rose Christian, Cheze Stéphane, Prébet Thomas, Vey Norbert, Legentil Marion, Duffourd Yannis, de Botton Stéphane, Preudhomme Claude, Birnbaum Daniel, Bernard Olivier A, Ogawa Seishi, Fontenay Michaela, Kosmider Olivier
Abstract excerpt
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 BCORL1 genes in a cohort of 354 MDS patients identified 4.2% and 0.8% of mutations respectively. BCOR mutations...
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