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Showing 1–11 of 11 results
Advanced filters: Author: Kristy Boggs Clear advanced filters

  • At least two-thirds of supratentorial ependymomas contain oncogenic fusions between RELA, the principal effector of nuclear factor-κB (NF-κB) signalling, and uncharacterized gene C11orf95; C11orf95–RELA fusion proteins translocate spontaneously to the nucleus to activate NF-κB target genes, and rapidly transform neural stem cells to form tumours in mice

    • Matthew Parker
    • Kumarasamypet M. Mohankumar
    • Richard J. Gilbertson
    Research
    Nature
    Volume: 506, P: 451-455

  • Proteins involved in epigenetic regulation are frequently mutated in several paediatric cancers. Here, Huether et al.characterize the somatic mutation frequency across 21 paediatric cancer subtypes by sequencing 633 epigenetic genes in over 1,000 tumours; generating a rich data set for investigating epigenetic dysregulation.

    • Robert Huether
    • Li Dong
    • James R. Downing
    Research
    Nature Communications
    Volume: 5, P: 1-7

  • Pediatric adrenocortical carcinoma is a rare malignancy with poor prognosis. Here the authors analyse the genomes, exomes and transcriptomes of 37 such tumours and identify genetic alterations whose nature, timing and potential interactions are key events with prognostic significance in pediatric adrenocortical tumorigenesis.

    • Emilia M. Pinto
    • Xiang Chen
    • Gerard P. Zambetti
    Research
    Nature Communications
    Volume: 6, P: 1-10

  • Charles Mullighan, Jinghui Zhang and colleagues characterize a subtype of B-progenitor acute lymphoblastic leukemia with deregulated DUX4 and ERG. They find that aberrant DUX4 activation results in loss of ERG function, either through deletion or by the induction a novel transforming ERG isoform, ERGalt, that inhibits wild-type ERG activity.

    • Jinghui Zhang
    • Kelly McCastlain
    • Charles G Mullighan
    Research
    Nature Genetics
    Volume: 48, P: 1481-1489

  • Anna Andersson, Tanja Gruber, James Downing and colleagues report a genomic analysis of infant acute lymphoblastic leukemias with MLL rearrangements. They identify recurrent activating mutations in tyrosine kinase, phosphatidylinositol 3-kinase and RAS pathway genes but find that these mutations were often present in minor subclones and lost at the time of relapse.

    • Anna K Andersson
    • Jing Ma
    • James R Downing
    Research
    Nature Genetics
    Volume: 47, P: 330-337

  • Lars Bullinger, Jinghui Zhang, Jeffery Klco, James Downing and colleagues report a detailed genomic analysis of pediatric and adult core-binding factor acute myeloid leukemias (CBF-AMLs). They identify recurrent mutations in CCND2, MGA, DHX15 and ZBTB7A and highlight dramatic differences in the landscape of cooperating mutations between different CBF-AML subtypes.

    • Zachary J Faber
    • Xiang Chen
    • James R Downing
    Research
    Nature Genetics
    Volume: 48, P: 1551-1556

  • David Ellison and colleagues report whole-genome sequencing of pediatric low-grade gliomas, the most common pediatric brain tumor. They identify a range of genomic alterations, including recurrent and mutually exclusive duplications of the FGFR1 region encoding the tyrosine kinase domain and rearrangements of MYB.

    • Jinghui Zhang
    • Gang Wu
    • David W Ellison
    Research
    Nature Genetics
    Volume: 45, P: 602-612