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Spliceosome mutations in hematopoietic malignancies

Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).

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Figure 1: Alterations in the SF3B1 and U2AF1 splicing factors in MDS, CLL and other cancers.


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Correspondence to Christopher N Hahn or Hamish S Scott.

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Hahn, C., Scott, H. Spliceosome mutations in hematopoietic malignancies. Nat Genet 44, 9–10 (2012).

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