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https://hdl.handle.net/2440/123300
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Type: | Journal article |
Title: | Germline deletion of ETV6 in familial acute lymphoblastic leukemia |
Author: | Rampersaud, E. Ziegler, D.S. Iacobucci, I. Payne-Turner, D. Churchman, M.L. Schrader, K.A. Joseph, V. Offit, K. Tucker, K. Sutton, R. Warby, M. Chenevix-Trench, G. Huntsman, D.G. Tsoli, M. Scott Mead, R. Qu, C. Leventaki, V. Wu, G. Mullighan, C.G. |
Citation: | Blood Advances, 2019; 3(7):1039-1046 |
Publisher: | American Society of Hematology |
Issue Date: | 2019 |
ISSN: | 2473-9529 2473-9537 |
Statement of Responsibility: | Evadnie Rampersaud, David S. Ziegler, Ilaria Iacobucci, Debbie Payne-Turner, Michelle L. Churchman, Kasmintan A. Schrader, Vijai Joseph, Kenneth Offit, Katherine Tucker, Rosemary Sutton, Meera Warby, Georgia Chenevix-Trench, David G. Huntsman, Maria Tsoli, R. Scott Mead, Chunxu Qu, Vasiliki Leventaki, Gang Wu, and Charles G. Mullighan |
Abstract: | Recent studies have identified germline mutations in TP53, PAX5, ETV6, and IKZF1 in kindreds with familial acute lymphoblastic leukemia (ALL), but the genetic basis of ALL in many kindreds is unknown despite mutational analysis of the exome. Here, we report a germline deletion of ETV6 identified by linkage and structural variant analysis of whole-genome sequencing data segregating in a kindred with thrombocytopenia, B-progenitor acute lymphoblastic leukemia, and diffuse large B-cell lymphoma. The 75-nt deletion removed the ETV6 exon 7 splice acceptor, resulting in exon skipping and protein truncation. The ETV6 deletion was also identified by optimal structural variant analysis of exome sequencing data. These findings identify a new mechanism of germline predisposition in ALL and implicate ETV6 germline variation in predisposition to lymphoma. Importantly, these data highlight the importance of germline structural variant analysis in the search for germline variants predisposing to familial leukemia. |
Keywords: | Humans Thrombocytopenia Genetic Predisposition to Disease Repressor Proteins DNA Mutational Analysis Family Sequence Deletion Germ-Line Mutation Proto-Oncogene Proteins c-ets Lymphoma, Large B-Cell, Diffuse Precursor Cell Lymphoblastic Leukemia-Lymphoma Exome |
Rights: | © 2019 by The American Society of Hematology |
DOI: | 10.1182/bloodadvances.2018030635 |
Published version: | http://dx.doi.org/10.1182/bloodadvances.2018030635 |
Appears in Collections: | Aurora harvest 8 Medicine publications |
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