Germline PAX5 mutations predispose to childhood leukemia

Waanders, Esme

Researchers from the department of Human Genetics, in collaboration with groups from New York, Memphis and Washington, have discovered that germline mutations in the lymphoid transcription factor gene PAX5 increase the risk for development of B-cell precursor acute lymphoblastic leukemia (ALL) at childhood. Dr. Esmé Waanders, postdoc in the lab of Dr. R. Kuiper and shared first author on the study, currently works for 1.5 years at St. Jude Children's Research Hospital in Memphis with a Dutch Cancer Society fellowship on a project on cancer susceptibility in children. This study provides one of the first implications for germline mutations in familial ALL, and stresses the importance of further sequencing of affected kindreds to reveal the full spectrum of germline variation contributing to ALL.

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 SC, Kuiper RP, Simons A, Schiffman JD, Onel K, Plon SE, Wheeler DA, 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 KG, 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. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. Sept 8.

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