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Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia

Author

Listed:
  • Xose S. Puente

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Magda Pinyol

    (Unidad de Genómica, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain)

  • Víctor Quesada

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Laura Conde

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Gonzalo R. Ordóñez

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Neus Villamor

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Georgia Escaramis

    (Genes and Disease Programme, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Pedro Jares

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Sílvia Beà

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Marcos González-Díaz

    (Servicio de Hematología, Hospital Universitario, Centro de Investigación del Cáncer-IBMCC (USAL-CSIC), Universidad de Salamanca, 37007 Salamanca, Spain)

  • Laia Bassaganyas

    (Genes and Disease Programme, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Tycho Baumann

    (Servicio de Hematología, Hospital Clínic, IDIBAPS, Universidad de Barcelona, 08036 Barcelona, Spain)

  • Manel Juan

    (Servicio de Inmunología, Hospital Clínic, IDIBAPS, 08036 Barcelona, Spain)

  • Mónica López-Guerra

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Dolors Colomer

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • José M. C. Tubío

    (Genes and Disease Programme, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain
    Hospital Clínico Universitario de Santiago de Compostela, 15706 Santiago de Compostela, Spain)

  • Cristina López

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Alba Navarro

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Cristian Tornador

    (Genes and Disease Programme, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Marta Aymerich

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • María Rozman

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Jesús M. Hernández

    (Servicio de Hematología, Hospital Universitario, Centro de Investigación del Cáncer-IBMCC (USAL-CSIC), Universidad de Salamanca, 37007 Salamanca, Spain)

  • Diana A. Puente

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • José M. P. Freije

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Gloria Velasco

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Ana Gutiérrez-Fernández

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Dolors Costa

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Anna Carrió

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Sara Guijarro

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Anna Enjuanes

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Lluís Hernández

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

  • Jordi Yagüe

    (Servicio de Inmunología, Hospital Clínic, IDIBAPS, 08036 Barcelona, Spain)

  • Pilar Nicolás

    (Cátedra Inter-Universitaria de Derecho y Genoma Humano, Universidad de Deusto, Universidad del País Vasco, 48007 Bilbao, Spain)

  • Carlos M. Romeo-Casabona

    (Cátedra Inter-Universitaria de Derecho y Genoma Humano, Universidad de Deusto, Universidad del País Vasco, 48007 Bilbao, Spain)

  • Heinz Himmelbauer

    (Ultrasequencing Unit, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Ester Castillo

    (Ultrasequencing Unit, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Juliane C. Dohm

    (Ultrasequencing Unit, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Silvia de Sanjosé

    (Unidad de Infecciones y Cáncer, Institut Català de Oncologia-IDIBELL, 08907 Hospitalet de Llobregat)

  • Miguel A. Piris

    (Molecular Pathology Programme, Spanish National Cancer Research Centre (CNIO), 28029 Madrid, Spain)

  • Enrique de Alava

    (Servicio de Hematología, Hospital Universitario, Centro de Investigación del Cáncer-IBMCC (USAL-CSIC), Universidad de Salamanca, 37007 Salamanca, Spain)

  • Jesús San Miguel

    (Servicio de Hematología, Hospital Universitario, Centro de Investigación del Cáncer-IBMCC (USAL-CSIC), Universidad de Salamanca, 37007 Salamanca, Spain)

  • Romina Royo

    (Programa Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain)

  • Josep L. Gelpí

    (Programa Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain)

  • David Torrents

    (Programa Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain)

  • Modesto Orozco

    (Programa Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain)

  • David G. Pisano

    (Structural Biology and Biocomputing Programme, Spanish National Cancer Research Centre (CNIO), Spanish National Bioinformatics Institute, 28029 Madrid, Spain)

  • Alfonso Valencia

    (Structural Biology and Biocomputing Programme, Spanish National Cancer Research Centre (CNIO), Spanish National Bioinformatics Institute, 28029 Madrid, Spain)

  • Roderic Guigó

    (Genomic Bioinformatics Programme, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), Spanish National Bioinformatics Institute, 08003 Barcelona, Spain)

  • Mónica Bayés

    (Centro Nacional de Análisis Genómico, Parc Científic de Barcelona, 08028 Barcelona, Spain)

  • Simon Heath

    (Centro Nacional de Análisis Genómico, Parc Científic de Barcelona, 08028 Barcelona, Spain)

  • Marta Gut

    (Centro Nacional de Análisis Genómico, Parc Científic de Barcelona, 08028 Barcelona, Spain)

  • Peter Klatt

    (Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas, 28049 Madrid, Spain)

  • John Marshall

    (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK)

  • Keiran Raine

    (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK)

  • Lucy A. Stebbings

    (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK)

  • P. Andrew Futreal

    (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK)

  • Michael R. Stratton

    (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK)

  • Peter J. Campbell

    (Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK)

  • Ivo Gut

    (Centro Nacional de Análisis Genómico, Parc Científic de Barcelona, 08028 Barcelona, Spain)

  • Armando López-Guillermo

    (Servicio de Hematología, Hospital Clínic, IDIBAPS, Universidad de Barcelona, 08036 Barcelona, Spain)

  • Xavier Estivill

    (Genes and Disease Programme, Center for Genomic Regulation, Pompeu Fabra University (CRG-UPF), 08003 Barcelona, Spain)

  • Emili Montserrat

    (Servicio de Hematología, Hospital Clínic, IDIBAPS, Universidad de Barcelona, 08036 Barcelona, Spain)

  • Carlos López-Otín

    (Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain)

  • Elías Campo

    (Unidad de Hematopatología, Servicio de Anatomía Patológica, Hospital Clínic, Universitat de Barcelona, IDIBAPS, 08036 Barcelona, Spain)

Abstract

Leukaemia-linked gene mutations Analysis of the genomes of four patients with chronic lymphocytic leukaemia, and validation in more than 300 patients, has identified four genes — NOTCH1, MYD88, XPO1 and KLHL6 — that are recurrently mutated in the condition. Mutations in NOTCH1, MYD88 and XPO1 are thought to contribute to the clinical evolution of the disease. Evidence that NOTCH1 and MYD88 mutations are activating events highlights them as potential therapeutic targets.

Suggested Citation

  • Xose S. Puente & Magda Pinyol & Víctor Quesada & Laura Conde & Gonzalo R. Ordóñez & Neus Villamor & Georgia Escaramis & Pedro Jares & Sílvia Beà & Marcos González-Díaz & Laia Bassaganyas & Tycho Bauma, 2011. "Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia," Nature, Nature, vol. 475(7354), pages 101-105, July.
    • Handle: RePEc:nat:nature:v:475:y:2011:i:7354:d:10.1038_nature10113
    DOI: 10.1038/nature10113
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    Cited by:

    1. Kakushadze, Zura & Yu, Willie, 2016. "Factor models for cancer signatures," Physica A: Statistical Mechanics and its Applications, Elsevier, vol. 462(C), pages 527-559.
    2. Ting Liu & Jianan Rao & Wenting Hu & Bowen Cui & Jiaoyang Cai & Yuhan Liu & Huiying Sun & Xiaoxiao Chen & Yanjing Tang & Jing Chen & Xiang Wang & Han Wang & Wubin Qian & Binchen Mao & Sheng Guo & Rong, 2022. "Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification," Nature Communications, Nature, vol. 13(1), pages 1-11, December.

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