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Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savoia A, Rajpurkar M, Jones K, Gowan K, Balduini C, Pecci A, Gnan C, De Rocco D, Doubek M, Li L, Lu L, Leung R, Landolt-Marticorena C, Hunger S, Heller P, Gutierrez-Hartmann A, Xiayuan L, Pluthero FG, Rowley JW, Weyrich AS, Kahr WHA, Porter CC, Di Paola J. Noetzli L, et al. Nat Genet. 2015 May;47(5):535-538. doi: 10.1038/ng.3253. Epub 2015 Mar 25. Nat Genet. 2015. PMID: 25807284 Free PMC article.
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Topka S, et al. PLoS Genet. 2015 Jun 23;11(6):e1005262. doi: 10.1371/journal.pgen.1005262. eCollection 2015 Jun. PLoS Genet. 2015. PMID: 26102509 Free PMC article.
Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukaemia: a systematic genetic study.
Moriyama T, Metzger ML, Wu G, Nishii R, Qian M, Devidas M, Yang W, Cheng C, Cao X, Quinn E, Raimondi S, Gastier-Foster JM, Raetz E, Larsen E, Martin PL, Bowman WP, Winick N, Komada Y, Wang S, Edmonson M, Xu H, Mardis E, Fulton R, Pui CH, Mullighan C, Evans WE, Zhang J, Hunger SP, Relling MV, Nichols KE, Loh ML, Yang JJ. Moriyama T, et al. Lancet Oncol. 2015 Dec;16(16):1659-66. doi: 10.1016/S1470-2045(15)00369-1. Epub 2015 Oct 28. Lancet Oncol. 2015. PMID: 26522332 Free PMC article.
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A. Melazzini F, et al. Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30. Haematologica. 2016. PMID: 27365488 Free PMC article.
Germline deletion of ETV6 in familial acute lymphoblastic leukemia.
Rampersaud E, Ziegler DS, Iacobucci I, Payne-Turner D, Churchman ML, Schrader KA, Joseph V, Offit K, Tucker K, Sutton R, Warby M, Chenevix-Trench G, Huntsman DG, Tsoli M, Mead RS, Qu C, Leventaki V, Wu G, Mullighan CG. Rampersaud E, et al. Blood Adv. 2019 Apr 9;3(7):1039-1046. doi: 10.1182/bloodadvances.2018030635. Blood Adv. 2019. PMID: 30940639 Free PMC article.