Identification of a recurrent germline PAX 5 mutation and susceptibility to pre-B cell acute lymphoblastic leukemia

  title={Identification of a recurrent germline PAX 5 mutation and susceptibility to pre-B cell acute lymphoblastic leukemia},
  author={O ContributionsK and K O K O Contributed Reagents and St Jude and Louis Washington and Nat Genet and Author and Sohela Shah and Kasmintan Schrader and Esm{\'e} Waanders and Andrew E. Timms and Joseph Vijai and Cornelius Miething and Jeremy Wechsler and Jun Yang and James A Hayes and Robert J. Klein and Jinghui Zhang and Lei Wei and Gang Wu and Michael Rusch and Panduka Nagahawatte and Jing Ma and S Chen and Guangchun Song and Jinjun Cheng and Paul Meyers and Deepa Bhojwani and Suresh C. Jhanwar and Peter G. Maslak and M. Fleisher and Jason Littman and Lily Offit and Rohini Rau-Murthy and Megan Harlan Fleischut and Marina J. Corines and Rajmohan Murali and Xiaoni Gao and Christopher Manschreck and Thomas Kitzing and V. V. S. Murty and Susana C. Raimondi and Roland P Kuiper and Annet Simons and Joshua D. Schiffman and Kenan Onel and Sharon E. Plon and David A. Wheeler and Deborah Ritter and David S Ziegler and Kathy Tucker and Rosemary Sutton and Georgia Chenevix-Trench and Jun Li and David G. Huntsman and Samantha Hansford and Janine Senz and Thomas J Walsh and Ming Cheng Lee and Christopher N Hahn and Kathryn G. Roberts and M. -T. King and Sarah Michelman Lo and Ross L. Levine and Mark Daly and Steven Lipkin and Scott W Lowe and James R. Downing and David Altshuler and John T. Sandlund and Marshall S. Horwitz and Charles G Mullighan and Kenneth Offit and Affiliations},
  • Charles Mullighan@stjude, Contributions K O, +71 authors Affiliations
  • Published 2014
Somatic alterations of the lymphoid transcription factor gene PAX5 are a hallmark of Bprogenitor acute lymphoblastic leukemia (B-ALL)1-3, but inherited mutations of PAX5 have not previously been described. Here, we report a novel heterozygous germline variant, c. 547G>A (p.Gly183Ser), in the octapeptide domain of PAX5 that was found to segregate with… CONTINUE READING