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Exp Hematol Oncol. 2014 May 8;3:13. doi: 10.1186/2162-3619-3-13. eCollection 2014.

Cohesin mutations in myeloid malignancies: underlying mechanisms.

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Department of Pathology, Dunedin School of Medicine, The University of Otago, P.O. Box 913, Dunedin, New Zealand.
Liggins Institute, The University of Auckland, Private Bag 92019, Auckland 1142, New Zealand.


Recently, whole genome sequencing approaches have pinpointed mutations in genes that were previously not associated with cancer. For Acute Myeloid Leukaemia (AML), and other myeloid disorders, these approaches revealed a high prevalence of mutations in genes encoding the chromosome cohesion complex, cohesin. Cohesin mutations represent a novel genetic pathway for AML, but how AML arises from these mutations is unknown. This review will explore the potential mechanisms by which cohesin mutations contribute to AML and other myeloid malignancies.


Cohesin; Leukemia; Mutation; Myeloid; RUNX1; Transcription

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