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Comment
. 2013 Oct;45(10):1104-5.
doi: 10.1038/ng.2778.

Germline PAX5 mutations and B cell leukemia

R Katherine Hyde  1 , P Paul Liu
Affiliations
Comment

Germline PAX5 mutations and B cell leukemia

R Katherine Hyde et al. Nat Genet. 2013 Oct.

Abstract

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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Comment on

  • A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
    Shah S, Schrader KA, Waanders E, Timms AE, Vijai J, Miething C, Wechsler J, Yang J, Hayes J, Klein RJ, Zhang J, Wei L, Wu G, Rusch M, Nagahawatte P, Ma J, Chen SC, Song G, Cheng J, Meyers P, Bhojwani D, Jhanwar S, Maslak P, Fleisher M, Littman J, Offit L, Rau-Murthy R, Fleischut MH, Corines M, Murali R, Gao X, Manschreck C, Kitzing T, Murty VV, Raimondi S, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler D, Ritter D, Ziegler DS, Tucker K, Sutton R, Chenevix-Trench G, Li J, Huntsman DG, Hansford S, Senz J, Walsh T, Lee M, Hahn CN, Roberts K, King MC, Lo SM, Levine RL, Viale A, Socci ND, Nathanson KL, Scott HS, Daly M, Lipkin SM, Lowe SW, Downing JR, Altshuler D, Sandlund JT, Horwitz MS, Mullighan CG, Offit K. Shah S, et al. Nat Genet. 2013 Oct;45(10):1226-1231. doi: 10.1038/ng.2754. Epub 2013 Sep 8. Nat Genet. 2013. PMID: 24013638 Free PMC article.

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