Article
RAG-mediated recombination is the predominant driver of oncogenic rearrangement in ETV6-RUNX1 acute lymphoblastic leukemia.
Nature genetics - 1 Feb 2014
Papaemmanuil Elli, Rapado Inmaculada, Li Yilong, Potter Nicola E, Wedge David C, Tubio Jose, Alexandrov Ludmil B, Van Loo Peter, Cooke Susanna L, Marshall John, Martincorena Inigo, Hinton Jonathan, Gundem Gunes, van Delft Frederik W, Nik-Zainal Serena, Jones David R, Ramakrishna Manasa, Titley Ian, Stebbings Lucy, Leroy Catherine, Menzies Andrew, Gamble John, Robinson Ben, Mudie Laura, Raine Keiran, O'Meara Sarah, Teague Jon W, Butler Adam P, Cazzaniga Giovanni, Biondi Andrea, Zuna Jan, Kempski Helena, Muschen Markus, Ford Anthony M, Stratton Michael R, Greaves Mel, Campbell Peter J
Abstract excerpt
The ETV6-RUNX1 fusion gene, found in 25% of childhood acute lymphoblastic leukemia (ALL) cases, is acquired in utero but requires additional somatic mutations for overt leukemia. We used exome and low-coverage whole-genome sequencing to characterize secondary events associated with leukemic transformation. RAG-mediated deletions emerge as the dominant mutational process, characterized by recombination signal...
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