ArticleNature2015
Non-coding recurrent mutations in chronic lymphocytic leukaemia.
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Article in Nature, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 540 papers, 1 of them a synthesis that pooled it.
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0cells of the map it votes in
540citing papers in PubMed, 1 pooled it
50.7field-weighted citation impact, top 1% of its field
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Who cites it
540 citing papers in PubMed, 1 synthesis or guideline pooled it, 842 citations in OpenAlex.
- Multi-ancestry genome-wide association study of serum creatine kinase implicates myopathy genes and muscle pathways.EBioMedicine · 2026Pooled it
- ZNF292 mutations impair RNA and protein biosynthesis defining an adverse prognostic subset in early-stage chronic lymphocytic leukemia.Biomarker research · 2026Article
- Beyond End Protection: Shelterin, POT1 Dysfunction, and Telomere Replication Stress in Cancer.Biomolecules · 2026Review
- A bivalent molecular glue linking lysine acetyltransferases to oncogene-induced cell death.Cell · 2026Article
- Article
- ZMYM3 mutations modulate histone acetylation and cooperate with NOTCH1 mutations in chronic lymphocytic leukemia.Blood advances · 2026Article
- Integrated multiomic profiling reveals 2 distinct splenic marginal zone lymphoma subgroups with prognostic relevance.Blood advances · 2026Article
- Molecular Insights and Novel Therapies for Lymphoproliferative Disorders.International journal of molecular sciences · 2026Review
- Genetic risk and immune dysregulation of classic Hodgkin lymphoma transformation of chronic lymphocytic leukemia/small lymphocytic lymphoma: a multicentric study.medRxiv : the preprint server for health sciences · 2026Article
- Genomic context of mutations in MIR142 in blood cancers: summary and integrative analysis.Cellular & molecular biology letters · 2026Review
- A diagnostic pitfall in cold agglutinin disease: KMT2D-mutated CAD-associated lymphoproliferative disorder with a CLL-like immunophenotype.Oxford medical case reports · 2026Article
- Clonal haematopoiesis in chronic lymphocytic leukaemia: Biology, inflammaging and clinical implications in the era of targeted therapy.Clinical and translational medicine · 2026Review
- Clonal Burden, Immunoglobulin Heavy Chain Variable Gene Somatic Hypermutations, and Immunoglobulin Gene Repertoire in Korean Patients with Chronic Lymphocytic Leukemia Assessed by Next-generation Sequencing.Annals of laboratory medicine · 2026Article
- ZMYM3 S464: a potential phospho-regulatory hub in epigenetic remodeling and oncogenesis.Molecular genetics and genomics : MGG · 2026Article
- Identification of two epitypes of IGHV unmutated chronic lymphocytic leukemia with distinct B-cell-related epigenetic imprinting and genetic alterations.HemaSphere · 2026Article
- CD6 expression is an independent predictor of time to first treatment in chronic lymphocytic leukemia.Haematologica · 2026Article
- lncAPNet enables the deciphering of lncRNA-mRNA connections in patient transcriptomic data.Bioinformatics advances · 2026Article
- Epigenetics in B-CLL.International journal of genomics · 2026Review
- Tonic signaling of the B-cell antigen-specific receptor is a common functional hallmark in chronic lymphocytic leukemia cell phosphoproteomes at early disease stages.Molecular oncology · 2025Article
- Mutational Landscape and Clinical Impact of SPEN Mutations in Patients with Chronic Lymphocytic Leukemia.Cancers · 2025Article
480 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
57 authors at 11 institutions in 3 countries.
Xose S PuenteDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Silvia BeàInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Rafael Valdés-MasDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Neus VillamorUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Jesús Gutiérrez-AbrilDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
José I Martín-SuberoDepartament d'Anatomía Patològica, Microbiología i Farmacología, Universitat de Barcelona, 08036 Barcelona, Spain.
Marta MunarPrograma Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain.
Carlota Rubio-PérezResearch Unit on Biomedical Informatics, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
Pedro JaresUnidad de Genómica, IDIBAPS, 08036 Barcelona, Spain.
Marta AymerichUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Tycho BaumannServicio de Hematología, Hospital Clínic, IDIBAPS, 08036 Barcelona, Spain.
Renée BeekmanInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Laura BelverInstitute for Cancer Genetics, Columbia University, New York 10032, USA.
Anna CarrioUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Giancarlo CastellanoInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Guillem ClotInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Enrique ColadoServicio de Hematología, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.
Dolors ColomerUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Dolors CostaUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Julio DelgadoServicio de Hematología, Hospital Clínic, IDIBAPS, 08036 Barcelona, Spain.
Anna EnjuanesUnidad de Genómica, IDIBAPS, 08036 Barcelona, Spain.
Xavier EstivillCenter for Genomic Regulation (CRG), Pompeu Fabra University (UPF), Hospital del Mar Research Institute (IMIM), 08003 Barcelona, Spain.
Adolfo A FerrandoInstitute for Cancer Genetics, Columbia University, New York 10032, USA.
Josep L GelpíPrograma Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain.
Blanca GonzálezUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Santiago GonzálezPrograma Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain.
Marcos GonzálezServicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, 37007 Salamanca, Spain.
Marta GutCentro Nacional de Análisis Genómico, Parc Científic de Barcelona, 08028 Barcelona, Spain.
Jesús M Hernández-RivasServicio de Hematología, IBSAL-Hospital Universitario de Salamanca, Centro de Investigación del Cáncer, Universidad de Salamanca-CSIC, 37007 Salamanca, Spain.
Mónica López-GuerraUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
David Martín-GarcíaInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Alba NavarroInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Pilar NicolásCátedra Inter-Universitaria de Derecho y Genoma Humano, Universidad de Deusto, Universidad del País Vasco, 48007 Bilbao, Spain.
Modesto OrozcoPrograma Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain.
Ángel R PayerServicio de Hematología, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.
Magda PinyolUnidad de Genómica, IDIBAPS, 08036 Barcelona, Spain.
David G PisanoStructural Biology and Biocomputing Programme, Spanish National Cancer Research Centre (CNIO), Spanish National Bioinformatics Institute, 28029 Madrid, Spain.
Diana A PuenteDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Ana C QueirósDepartament d'Anatomía Patològica, Microbiología i Farmacología, Universitat de Barcelona, 08036 Barcelona, Spain.
Víctor QuesadaDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Carlos M Romeo-CasabonaCátedra Inter-Universitaria de Derecho y Genoma Humano, Universidad de Deusto, Universidad del País Vasco, 48007 Bilbao, Spain.
Cristina RoyoInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Romina RoyoPrograma Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain.
María RozmanUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Nuria RussiñolInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Itziar SalaverríaInstitut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.
Kostas StamatopoulosInstitute of Applied Biosciences, Center for Research and Technology Hellas, 57001 Thermi, Thessaloniki, Greece.
Hendrik G StunnenbergDepartment of Molecular Biology, Faculty of Science, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen, 6500 HB Nijmegen, The Netherlands.
David TamboreroResearch Unit on Biomedical Informatics, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
María J TerolServicio de Hematología, Hospital Clínico de Valencia, 46010 Valencia, Spain.
Alfonso ValenciaStructural Biology and Biocomputing Programme, Spanish National Cancer Research Centre (CNIO), Spanish National Bioinformatics Institute, 28029 Madrid, Spain.
Nuria López-BigasResearch Unit on Biomedical Informatics, Department of Experimental and Health Sciences, Universitat Pompeu Fabra, 08003 Barcelona, Spain.
David TorrentsPrograma Conjunto de Biología Computacional, Barcelona Supercomputing Center (BSC), Institut de Recerca Biomèdica (IRB), Spanish National Bioinformatics Institute, Universitat de Barcelona, 08028 Barcelona, Spain.
Ivo GutCentro Nacional de Análisis Genómico, Parc Científic de Barcelona, 08028 Barcelona, Spain.
Armando López-GuillermoServicio de Hematología, Hospital Clínic, IDIBAPS, 08036 Barcelona, Spain.
Carlos López-OtínDepartamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
Elías CampoUnitat de Hematología, Hospital Clínic, IDIBAPS, Universitat de Barcelona, 08036 Barcelona, Spain.
Consorci Institut D'Investigacions Biomediques August Pi I Sunyer · ESUniversitat de Barcelona · ESUniversidad de Oviedo · ESBarcelona Supercomputing Center · ESUniversitat Pompeu Fabra · ESColumbia University · USHospital Universitario Central de Asturias · ESUniversidad de Salamanca · ESUniversity of the Basque Country · ESRadboud University Nijmegen · NLUniversitat Politècnica de Catalunya · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
Chronic lymphocytic leukaemia (CLL) is a frequent disease in which the genetic alterations determining the clinicobiological behaviour are not fully understood. Here we describe a comprehensive evaluation of the genomic landscape of 452 CLL cases and 54 patients with monoclonal B-lymphocytosis, a precursor disorder. We extend the number of CLL driver alterations, including changes in ZNF292, ZMYM3, ARID1A and PTPN11. We also identify novel recurrent mutations in non-coding regions, including the 3' region of NOTCH1, which cause aberrant splicing events, increase NOTCH1 activity and result in a more aggressive disease. In addition, mutations in an enhancer located on chromosome 9p13 result in reduced expression of the B-cell-specific transcription factor PAX5. The accumulative number of driver alterations (0 to ≥4) discriminated between patients with differences in clinical behaviour. This study provides an integrated portrait of the CLL genomic landscape, identifies new recurrent driver mutations of the disease, and suggests clinical interventions that may improve the management of this neoplasia.
Indexed as
3' Untranslated RegionsAlternative SplicingB-LymphocytesCarrier ProteinsChromosomes, Human, Pair 9DNA-Binding ProteinsDNA Mutational AnalysisDNA, NeoplasmEnhancer Elements, GeneticGenomicsHumansLeukemia, Lymphocytic, Chronic, B-CellMutationNerve Tissue ProteinsNuclear ProteinsPAX5 Transcription Factor3' Untranslated RegionsARID1A protein, humanCarrier ProteinsDNA-Binding ProteinsDNA, NeoplasmNerve Tissue ProteinsNOTCH1 protein, humanNuclear ProteinsPAX5 protein, humanPAX5 Transcription FactorProtein Tyrosine Phosphatase, Non-Receptor Type 11PTPN11 protein, humanReceptor, Notch1Transcription FactorsZMYM3 protein, humanZNF292 protein, human
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