Article
A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia.
Nature genetics - 1 Oct 2013
Shah Sohela, Schrader Kasmintan A, Waanders Esmé, Timms Andrew E, Vijai Joseph, Miething Cornelius, Wechsler Jeremy, Yang Jun, Hayes James, Klein Robert J, Zhang Jinghui, Wei Lei, Wu Gang, Rusch Michael, Nagahawatte Panduka, Ma Jing, Chen Shann-Ching, Song Guangchun, Cheng Jinjun, Meyers Paul, Bhojwani Deepa, Jhanwar Suresh, Maslak Peter, Fleisher Martin, Littman Jason, Offit Lily, Rau-Murthy Rohini, Fleischut Megan Harlan, Corines Marina, Murali Rajmohan, Gao Xiaoni, Manschreck Christopher, Kitzing Thomas, Murty Vundavalli V, Raimondi Susana, Kuiper Roland P, Simons Annet, Schiffman Joshua D, Onel Kenan, Plon Sharon E, Wheeler David, Ritter Deborah, Ziegler David S, Tucker Kathy, Sutton Rosemary, Chenevix-Trench Georgia, Li Jun, Huntsman David G, Hansford Samantha, Senz Janine, Walsh Thomas, Lee Ming, Hahn Christopher N, Roberts Kathryn, King Mary-Claire, Lo Sarah M, Levine Ross L, Viale Agnes, Socci Nicholas D, Nathanson Katherine L, Scott Hamish S, Daly Mark, Lipkin Steven M, Lowe Scott W, Downing James R, Altshuler David, Sandlund John T, Horwitz Marshall S, Mullighan Charles G, Offit Kenneth
Abstract excerpt
Somatic alterations of the lymphoid transcription factor gene PAX5 (also known as BSAP) are a hallmark of B cell precursor acute lymphoblastic leukemia (B-ALL), but inherited mutations of PAX5 have not previously been described. Here we report a new heterozygous germline variant, c.547G>A (p.Gly183Ser), affecting the octapeptide domain of PAX5 that was found to segregate with disease in two unrelated kindreds...
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