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The landscape of so...
The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.
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- Andersson, Anna (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,MLL-rearrangerad leukemi hos spädbarn,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,The pathogenetic mechanisms behind MLL-rearranged acute leukemia in infancy,Lund University Research Groups
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Ma, Jing (author)
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Wang, Jianmin (author)
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Chen, Xiang (author)
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Gedman, Amanda Larson (author)
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Dang, Jinjun (author)
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Nakitandwe, Joy (author)
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Holmfeldt, Linda (author)
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Parker, Matthew (author)
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Easton, John (author)
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Huether, Robert (author)
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Kriwacki, Richard (author)
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Rusch, Michael (author)
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Wu, Gang (author)
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Li, Yongjin (author)
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Mulder, Heather (author)
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Raimondi, Susana (author)
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Pounds, Stanley (author)
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Kang, Guolian (author)
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Shi, Lei (author)
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Becksfort, Jared (author)
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Gupta, Pankaj (author)
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Payne-Turner, Debbie (author)
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Vadodaria, Bhavin (author)
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Boggs, Kristy (author)
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Yergeau, Donald (author)
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Manne, Jayanthi (author)
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Song, Guangchun (author)
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Edmonson, Michael (author)
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Nagahawatte, Panduka (author)
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Wei, Lei (author)
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Cheng, Cheng (author)
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Pei, Deqing (author)
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Sutton, Rosemary (author)
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Venn, Nicola C (author)
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Chetcuti, Albert (author)
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Rush, Amanda (author)
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Catchpoole, Daniel (author)
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- Heldrup, Jesper (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Fioretos, Thoas (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
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Lu, Charles (author)
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Ding, Li (author)
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Pui, Ching-Hon (author)
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Shurtleff, Sheila (author)
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Mullighan, Charles G (author)
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Mardis, Elaine R (author)
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Wilson, Richard K (author)
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Gruber, Tanja A (author)
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Zhang, Jinghui (author)
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Downing, James R (author)
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(creator_code:org_t)
- 2015-03-02
- 2015
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 47:4, s. 192-330
- Related links:
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http://www.ncbi.nlm....
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http://dx.doi.org/10...
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https://europepmc.or...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Infant acute lymphoblastic leukemia (ALL) with MLL rearrangements (MLL-R) represents a distinct leukemia with a poor prognosis. To define its mutational landscape, we performed whole-genome, exome, RNA and targeted DNA sequencing on 65 infants (47 MLL-R and 18 non-MLL-R cases) and 20 older children (MLL-R cases) with leukemia. Our data show that infant MLL-R ALL has one of the lowest frequencies of somatic mutations of any sequenced cancer, with the predominant leukemic clone carrying a mean of 1.3 non-silent mutations. Despite this paucity of mutations, we detected activating mutations in kinase-PI3K-RAS signaling pathway components in 47% of cases. Surprisingly, these mutations were often subclonal and were frequently lost at relapse. In contrast to infant cases, MLL-R leukemia in older children had more somatic mutations (mean of 6.5 mutations/case versus 1.3 mutations/case, P = 7.15 × 10(-5)) and had frequent mutations (45%) in epigenetic regulators, a category of genes that, with the exception of MLL, was rarely mutated in infant MLL-R ALL.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Andersson, Anna
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Ma, Jing
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Wang, Jianmin
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Chen, Xiang
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Gedman, Amanda L ...
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Dang, Jinjun
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show more...
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Nakitandwe, Joy
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Holmfeldt, Linda
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Parker, Matthew
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Easton, John
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Huether, Robert
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Kriwacki, Richar ...
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Rusch, Michael
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Wu, Gang
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Li, Yongjin
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Mulder, Heather
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Raimondi, Susana
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Pounds, Stanley
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Kang, Guolian
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Shi, Lei
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Becksfort, Jared
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Gupta, Pankaj
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Payne-Turner, De ...
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Vadodaria, Bhavi ...
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Boggs, Kristy
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Yergeau, Donald
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Manne, Jayanthi
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Song, Guangchun
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Edmonson, Michae ...
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Nagahawatte, Pan ...
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Wei, Lei
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Cheng, Cheng
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Pei, Deqing
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Sutton, Rosemary
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Venn, Nicola C
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Chetcuti, Albert
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Rush, Amanda
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Catchpoole, Dani ...
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Heldrup, Jesper
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Fioretos, Thoas
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Lu, Charles
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Ding, Li
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Pui, Ching-Hon
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Shurtleff, Sheil ...
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Mullighan, Charl ...
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Mardis, Elaine R
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Wilson, Richard ...
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Gruber, Tanja A
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Zhang, Jinghui
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Downing, James R
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Genetics
- By the university
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Lund University