For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
6
views
39
references
 Top references
cited by
1
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      577
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

      Integrated molecular and clinical analysis of BRAF-mutant glioma in adults

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          BRAF mutations are a significant driver of disease in pediatric low-grade glioma, but the implications of BRAF alterations on the clinical course and treatment response in adult glioma remain unclear. Here, we characterize a multi-institutional cohort of more than 300 patients (>200 adults) with BRAF-mutated glioma using clinical, pathological/molecular, and outcome data. We observed that adult and pediatric BRAF-mutant gliomas harbor distinct clinical and molecular features, with a higher prevalence of BRAF V600E (Class I) and BRAF fusions in pediatric tumors. BRAF V600E alterations were associated with improved survival in adults with glioma overall, though not in glioblastoma. Other genomic alterations observed within functional classes were consistent with the putative roles of those BRAF mutation classes in glioma pathogenesis. In our adult cohort, BRAF V600E alterations conferred sensitivity to targeted therapies. Overall, this large cohort of BRAF-altered adult gliomas demonstrates a broad range of molecular alterations with implications for treatment sensitivity and survival.

          Related collections

          Most cited references39

          • Record: found
          • Abstract: found
          • Article: found
          Is Open Access

          HTSeq—a Python framework to work with high-throughput sequencing data

          Simon Anders, Paul Pyl, Wolfgang Huber (2014)
          Motivation: A large choice of tools exists for many standard tasks in the analysis of high-throughput sequencing (HTS) data. However, once a project deviates from standard workflows, custom scripts are needed. Results: We present HTSeq, a Python library to facilitate the rapid development of such scripts. HTSeq offers parsers for many common data formats in HTS projects, as well as classes to represent data, such as genomic coordinates, sequences, sequencing reads, alignments, gene model information and variant calls, and provides data structures that allow for querying via genomic coordinates. We also present htseq-count, a tool developed with HTSeq that preprocesses RNA-Seq data for differential expression analysis by counting the overlap of reads with genes. Availability and implementation: HTSeq is released as an open-source software under the GNU General Public Licence and available from http://www-huber.embl.de/HTSeq or from the Python Package Index at https://pypi.python.org/pypi/HTSeq. Contact: sanders@fs.tum.de
          Article 0 comments Cited 5228 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            The 2021 WHO Classification of Tumors of the Central Nervous System: a summary

            David N Louis, Arie Perry, Pieter Wesseling … (2021)
            The fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS), published in 2021, is the sixth version of the international standard for the classification of brain and spinal cord tumors. Building on the 2016 updated fourth edition and the work of the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy, the 2021 fifth edition introduces major changes that advance the role of molecular diagnostics in CNS tumor classification. At the same time, it remains wedded to other established approaches to tumor diagnosis such as histology and immunohistochemistry. In doing so, the fifth edition establishes some different approaches to both CNS tumor nomenclature and grading and it emphasizes the importance of integrated diagnoses and layered reports. New tumor types and subtypes are introduced, some based on novel diagnostic technologies such as DNA methylome profiling. The present review summarizes the major general changes in the 2021 fifth edition classification and the specific changes in each taxonomic category. It is hoped that this summary provides an overview to facilitate more in-depth exploration of the entire fifth edition of the WHO Classification of Tumors of the Central Nervous System.
            Article 0 comments Cited 2349 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Mutational Landscape of Metastatic Cancer Revealed from Prospective Clinical Sequencing of 10,000 Patients

              Ahmet Zehir, Ryma Benayed, Ronak H Shah … (2017)
              Tumor molecular profiling is a fundamental component of precision oncology, enabling the identification of genomic alterations in genes and pathways that can be targeted therapeutically. The existence of recurrent targetable alterations across distinct histologically-defined tumor types, coupled with an expanding portfolio of molecularly-targeted therapies, demands flexible and comprehensive approaches to profile clinically significant genes across the full spectrum of cancers. We established a large-scale, prospective clinical sequencing initiative utilizing a comprehensive assay, MSK-IMPACT, through which we have compiled matched tumor and normal sequence data from a unique cohort of more than 10,000 patients with advanced cancer and available pathological and clinical annotations. Using these data, we identified clinically relevant somatic mutations, novel non-coding alterations, and mutational signatures that were shared among common and rare tumor types. Patients were enrolled on genomically matched clinical trials at a rate of 11%. To enable discovery of novel biomarkers and deeper investigation into rare alterations and tumor types, all results are publicly accessible.
              Article 0 comments Cited 894 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Contributors
                Karisa C. Schreck:
                ORCID: http://orcid.org/0000-0001-7181-3269
                ksolt1@jhmi.edu
                Wenya Linda Bi:
                ORCID: http://orcid.org/0000-0002-4635-0247
                wbi@bwh.harvard.edu
                Journal
                Journal ID (nlm-ta): NPJ Precis Oncol
                Journal ID (iso-abbrev): NPJ Precis Oncol
                Title: NPJ Precision Oncology
                Publisher: Nature Publishing Group UK (London )
                ISSN (Electronic): 2397-768X
                Publication date (Electronic): 28 February 2023
                Publication date PMC-release: 28 February 2023
                Publication date Collection: 2023
                Volume: 7
                Electronic Location Identifier: 23
                Affiliations
                [1 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Department of Neurology, , Johns Hopkins University School of Medicine, ; Baltimore, MD USA
                [2 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Department of Oncology, , Johns Hopkins University School of Medicine, ; Baltimore, MD USA
                [3 ]GRID grid.62560.37, ISNI 0000 0004 0378 8294, Department of Neurosurgery, , Brigham and Women’s Hospital, Harvard Medical School, ; Boston, MA USA
                [4 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Department of Pediatrics, , Johns Hopkins University School of Medicine, ; Baltimore, MD USA
                [5 ]GRID grid.21107.35, ISNI 0000 0001 2171 9311, Department of Pathology, Johns Hopkins University School of Medicine, ; Baltimore, MD USA
                [6 ]GRID grid.65499.37, ISNI 0000 0001 2106 9910, Dana-Farber Cancer Institute, Harvard Medical School, ; Boston, MA USA
                Author information
                http://orcid.org/0000-0001-7181-3269
                http://orcid.org/0000-0002-4635-0247
                Article
                Publisher ID: 359
                DOI: 10.1038/s41698-023-00359-y
                PMC ID: 9975216
                PubMed ID: 36854806
                SO-VID: 2f31ce10-d7b8-44a5-8611-fe5ac51365b0
                Copyright © © The Author(s) 2023
                License:

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                Date received : 12 September 2022
                Date accepted : 7 February 2023
                Categories
                Subject: Article
                Custom metadata
                issue-copyright-statement © The Author(s) 2023

                Keywords: cns cancer,cancer genetics,oncogenes
                Data availability:
                Keywords: cns cancer, cancer genetics, oncogenes

                Comments

                Comment on this article

                scite_

                Similar content577

                See all similar

                Cited by1

                See all cited by

                Most referenced authors1,126

                See all reference authors