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Showing 1–13 of 13 results
Advanced filters: Author: Jared Becksfort 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

  • Whole-genome sequencing of medulloblastoma samples reveals several recurrent mutations in genes not previously implicated in the disease, many of which affect components of the epigenetic machinery in different disease subgroups.

    • Giles Robinson
    • Matthew Parker
    • Richard J. Gilbertson
    ResearchOpen Access
    Nature
    Volume: 488, P: 43-48

  • 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

  • Clinical oncology is rapidly adopting next-generation sequencing technology for nucleotide variant and indel detection. Here the authors present a three-platform approach (whole-genome, whole-exome, and whole-transcriptome) in pediatric patients for the detection of diverse types of germline and somatic variants.

    • Michael Rusch
    • Joy Nakitandwe
    • Jinghui Zhang
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-13

  • 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

  • Suzanne Baker and colleagues sequenced the whole genomes of seven pediatric brainstem glioblastomas and matched normal tissue. They found that 78% of diffuse intrinsic pontine gliomas and 22% of non-brainstem pediatric glioblastomas contained a mutation in H3F3A, encoding histone H3.3, or in the related HIST1H3B, encoding histone H3.1, causing a p.Lys27Met amino acid substitution in each protein.

    • Gang Wu
    • Alberto Broniscer
    • Suzanne J Baker
    Research
    Nature Genetics
    Volume: 44, P: 251-253

  • T-cell acute lymphoblastic leukaemia (T-ALL) is a haematological malignancy with a poor prognosis and no available targeted therapies; now two histone H3 lysine 27 demethylases, JMJD3 and UTX, are shown to have contrasting roles in human T-ALL cells and a mouse model of the disease, and a small molecule demethylase inhibitor is found to inhibit the growth of T-ALL cell lines, introducing a potential therapeutic avenue for acute leukaemia.

    • Panagiotis Ntziachristos
    • Aristotelis Tsirigos
    • Iannis Aifantis
    Research
    Nature
    Volume: 514, P: 513-517

  • 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