Kinnersley, B. orcid.org/0000-0003-1783-6296, Jung, J. orcid.org/0000-0002-0056-440X, Cornish, A.J. orcid.org/0000-0002-3966-3501 et al. (46 more authors) (2025) Genomic landscape of diffuse glioma revealed by whole genome sequencing. Nature Communications, 16 (1). 4233. ISSN 2041-1723
Abstract
Diffuse gliomas are the commonest malignant primary brain tumour in adults. Herein, we present analysis of the genomic landscape of adult glioma, by whole genome sequencing of 403 tumours (256 glioblastoma, 89 astrocytoma, 58 oligodendroglioma; 338 primary, 65 recurrence). We identify an extended catalogue of recurrent coding and non-coding genetic mutations that represents a source for future studies and provides a high-resolution map of structural variants, copy number changes and global genome features including telomere length, mutational signatures and extrachromosomal DNA. Finally, we relate these to clinical outcome. As well as identifying drug targets for treatment of glioma our findings offer the prospect of improving treatment allocation with established targeted therapies.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © The Author(s) 2025. Open Access: This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/. |
Keywords: | Telomere; Humans; Glioma; Astrocytoma; Glioblastoma; Oligodendroglioma; Brain Neoplasms; Genomics; Mutation; Genome, Human; Adult; Aged; Middle Aged; Female; Male; DNA Copy Number Variations; Whole Genome Sequencing |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine and Population Health |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 21 May 2025 10:15 |
Last Modified: | 21 May 2025 10:15 |
Status: | Published |
Publisher: | Springer Science and Business Media LLC |
Refereed: | Yes |
Identification Number: | 10.1038/s41467-025-59156-9 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:226930 |