Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alteration...

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Autores principales: Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Shanshan Liu, Chad E. Harris, Ashley Galvin, Maggie Malsch, David Dale, John M. Gansner, Taizo A. Nakano, Alison Bertuch, Adrianna Vlachos, Jeffrey M. Lipton, Paul Castillo, James Connelly, Jane Churpek, John R. Edwards, Nobuko Hijiya, Richard H. Ho, Inga Hofmann, James N. Huang, Siobán Keel, Adam Lamble, Bonnie W. Lau, Maxim Norkin, Elliot Stieglitz, Wendy Stock, Kelly Walkovich, Steffen Boettcher, Christian Brendel, Mark D. Fleming, Stella M. Davies, Edie A. Weller, Christopher Bahl, Scott L. Carter, Akiko Shimamura, R. Coleman Lindsley
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
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Science
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Acceso en línea:https://doaj.org/article/911d91b30d4548af8f9e72d025592f4b
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Sumario:Understanding the molecular basis of leukaemia predisposition is essential for intervention. The authors here investigate germline genetic leukaemia predisposition by studying Shwachman-Diamond syndrome and report compensatory inactivating mutations in EIF6 and transforming biallelic TP53 alterations.

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