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Showing 1–10 of 10 results
Advanced filters: Author: Simon Papillon-Cavanagh Clear advanced filters

  • Papillon-Cavanagh et al. evaluate the impact of biopsy site on measurements of tumor mutational burden (TMB) in a large cohort of tumor samples. The authors observe cancer- and tissue-specific patterns in TMB scores, as well as differences in TMB scores between primary and metastatic samples from the same cancer type.

    • Simon Papillon-Cavanagh
    • Julia F. Hopkins
    • Alice M. Walsh
    ResearchOpen Access
    Communications Medicine
    Volume: 1, P: 1-7

  • Diffuse Intrinsic Pontine Gliomas are diagnosed by sampling a small portion of the tumour. Here, using multiple samples from tumours, the authors analyse the spatial and temporal distribution of driver mutations revealing that H3K27M mutations arise first in tumorigenesis followed by a specific invariable sequence of driver mutations, which are homogeneously distributed across the tumour mass.

    • Hamid Nikbakht
    • Eshini Panditharatna
    • Javad Nazarian
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-8

  • Analyses of primary and relapse samples of embryonal tumours with multilayered rosettes provide insights into the molecular mechanisms that underlie the development and opportunities for the treatment of this deadly disease.

    • Sander Lambo
    • Susanne N. Gröbner
    • Marcel Kool
    Research
    Nature
    Volume: 576, P: 274-280

  • Lysine27-to-methionine mutations in histone H3 genes (H3K27M) occur in a subgroup of gliomas and decrease genome-wide H3K27 trimethylation. Here the authors utilise primary H3K27M tumour lines and isogenic CRISPR-edited controls and show that H3K27M induces defective chromatin spread of PRC2-mediated repressive H3K27me2/me3.

    • Ashot S. Harutyunyan
    • Brian Krug
    • Jacek Majewski
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-13

  • Nada Jabado, Jacek Majewski and colleagues identify mutations in multiple histone H3 genes causing recurrent p.Lys36Met alterations in head and neck squamous cell carcinomas. They show that tumors with these p.Lys36Met alterations correspond to a specific DNA methylation cluster along with tumors harboring previously described mutations in NSD1.

    • Simon Papillon-Cavanagh
    • Chao Lu
    • Nada Jabado
    Research
    Nature Genetics
    Volume: 49, P: 180-185

  • Michael Taylor, Marco Marra and colleagues analyze spatial tumor heterogeneity in 9 medulloblastomas, 16 high-grade gliomas and 10 renal cell carcinomas, using a combination of transcriptomic and genomic profiling of multiregional biopsies. They find that medulloblastomas have spatially homogeneous transcriptomes, whereas somatic mutations that affect genes suitable for targeted therapeutics are spatially heterogeneous.

    • A Sorana Morrissy
    • Florence M G Cavalli
    • Michael D Taylor
    Research
    Nature Genetics
    Volume: 49, P: 780-788

  • Nada Jabado, Jacek Majewski, Annie Huang and colleagues show that embryonal tumors with multilayered rosettes are characterized by a recurrent fusion of TTYH1 with the C19MC microRNA cluster. They further show that this fusion results in massive overexpression of a brain-specific isoform of DNMT3B, suggesting that this pediatric brain tumor is driven by epigenetic reactivation of an early developmental neurogenesis program.

    • Claudia L Kleinman
    • Noha Gerges
    • Nada Jabado
    Research
    Nature Genetics
    Volume: 46, P: 39-44