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Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.

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Title: Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Authors: Guerrini-Rousseau L; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of Pediatric Brain Tumors,' Gustave Roussy, Université Paris-Saclay, Villejuif, France.; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Masliah-Planchon J; Department of Pathology and Diagnostic, Prognostic and Theranostic Medicine, Somatic Genetic Unit, Institut Curie, Paris Sciences Lettres Research University, Paris, France., Filser M; Department of Pathology and Diagnostic, Prognostic and Theranostic Medicine, Somatic Genetic Unit, Institut Curie, Paris Sciences Lettres Research University, Paris, France., Tauziède-Espariat A; Department of Neuropathology, Sainte Anne Hospital, Paris, France., Entz-Werle N; Pediatric Hematology and Oncology Department, Strasbourg University Hospital, University of Strasbourg, Strasbourg, France., Maugard CM; Department of Clinical Genetics, Strasbourg University Hospital, Strasbourg, France., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Torrejon J; Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.; Institut Curie, Paris Sciences Lettres Research University, CNRS UMR, INSERM, Orsay, France., Gauthier-Villars M; Department of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France., Simaga F; Department of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France., Blauwblomme T; Necker-Enfants Malades University Hospital, Department of Pediatric Neurosurgery, Paris-Cité University, Paris, France., Beccaria K; Necker-Enfants Malades University Hospital, Department of Pediatric Neurosurgery, Paris-Cité University, Paris, France., Rouleau E; Cancer Genetics Unit, Department of Biology and Pathology, Institut Gustave Roussy, Villejuif, France., Dimaria M; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Grill J; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of Pediatric Brain Tumors,' Gustave Roussy, Université Paris-Saclay, Villejuif, France.; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Abbou S; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.; National Institute for Health and Medical Research (INSERM) U1015, Gustave Roussy, Villejuif, France., Claret B; Psycho-Oncology Unit, Interdisciplinary Department of Supportive Care, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Brugières L; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Doz F; Université Paris Cité, SIREDO Pediatric Cancer Center, Institut Curie, Paris, France.; SIREDO Center (Care, Innovation Research in Pediatric, Adolescent and Young Adult Oncology), Institut Curie, Paris, France., Bouchoucha Y; SIREDO Center (Care, Innovation Research in Pediatric, Adolescent and Young Adult Oncology), Institut Curie, Paris, France., Faure-Conter C; Pediatric Hematology and Oncology Institut, Centre Léon Berard, Lyon, France., Bonadona V; Clinical Oncogenetics Unit, Department of Prevention and Public Health, Centre Léon Bérard, Lyon, France., Mansuy L; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Nancy, Vandœuvre-lès-Nancy, France., de Carli E; Pediatric Hematology and Oncology Department, Angers University Hospital, Nancy, France., Ingster O; Department of Genetics, Angers University Hospital, Angers, France., Legrand C; Department of Genetics, Grenoble University Hospital, Grenoble, France., Pagnier A; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Grenoble, Grenoble, France., Berthet P; Department of Genetics, Centre François Baclesse, Caen, France., Bodet D; Pediatric Hematology and Oncology Department, Caen University Hospital, Caen, France., Julia S; Department of Genetics, Toulouse University Hospital, Toulouse, France., Bertozzi AI; Pediatric Hematology and Oncology Department, Toulouse University Hospital, Toulouse, France., Wilems M; Department of Medical Genetics, Montpellier University Hospital, Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France., Maurage CA; Laboratory of Neuropathology, Centre Oscar Lambret, Lille, France., Delattre O; INSERM U830, Cancer, Heterogeneity, Instability and Plasticity Laboratory Institut Curie, Paris, France., Ayrault O; Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.; Institut Curie, Paris Sciences Lettres Research University, CNRS UMR, INSERM, Orsay, France., Dufour C; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of Pediatric Brain Tumors,' Gustave Roussy, Université Paris-Saclay, Villejuif, France.; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Bourdeaut F; Université Paris Cité, SIREDO Pediatric Cancer Center, Institut Curie, Paris, France.; SIREDO Center (Care, Innovation Research in Pediatric, Adolescent and Young Adult Oncology), Institut Curie, Paris, France.; INSERM U830, Cancer, Heterogeneity, Instability and Plasticity Laboratory Institut Curie, Paris, France.
Source: Neuro-oncology advances [Neurooncol Adv] 2024 May 15; Vol. 6 (1), pp. vdae075. Date of Electronic Publication: 2024 May 15 (Print Publication: 2024).
Publication Type: Journal Article
Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755003 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-2498 (Electronic) Linking ISSN: 26322498 NLM ISO Abbreviation: Neurooncol Adv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:2632-2498
DOI:10.1093/noajnl/vdae075