The transcription factor PAX5 is required for normal B cell development and is frequently mutated or deleted in B cell precursor acute lymphoblastic leukemia (B-ALL). A new study demonstrates that germline hypomorphic mutations of PAX5 are associated with susceptibility to B-ALL, implicating PAX5 in a growing list of hematopoietic transcription factors mutated in familial leukemia predisposition syndromes.
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Hyde, R., Liu, P. Germline PAX5 mutations and B cell leukemia. Nat Genet 45, 1104–1105 (2013). https://doi.org/10.1038/ng.2778
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DOI: https://doi.org/10.1038/ng.2778
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