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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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  Data: Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
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  Data: <searchLink fieldCode="AU" term="%22Guerrini-Rousseau+L%22">Guerrini-Rousseau L</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Masliah-Planchon+J%22">Masliah-Planchon J</searchLink>; Department of Pathology and Diagnostic, Prognostic and Theranostic Medicine, Somatic Genetic Unit, Institut Curie, Paris Sciences Lettres Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Filser+M%22">Filser M</searchLink>; Department of Pathology and Diagnostic, Prognostic and Theranostic Medicine, Somatic Genetic Unit, Institut Curie, Paris Sciences Lettres Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Tauziède-Espariat+A%22">Tauziède-Espariat A</searchLink>; Department of Neuropathology, Sainte Anne Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Entz-Werle+N%22">Entz-Werle N</searchLink>; Pediatric Hematology and Oncology Department, Strasbourg University Hospital, University of Strasbourg, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Maugard+CM%22">Maugard CM</searchLink>; Department of Clinical Genetics, Strasbourg University Hospital, Strasbourg, France.<br /><searchLink fieldCode="AU" term="%22Hopman+SMJ%22">Hopman SMJ</searchLink>; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Torrejon+J%22">Torrejon J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Gauthier-Villars+M%22">Gauthier-Villars M</searchLink>; Department of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Simaga+F%22">Simaga F</searchLink>; Department of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Blauwblomme+T%22">Blauwblomme T</searchLink>; Necker-Enfants Malades University Hospital, Department of Pediatric Neurosurgery, Paris-Cité University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Beccaria+K%22">Beccaria K</searchLink>; Necker-Enfants Malades University Hospital, Department of Pediatric Neurosurgery, Paris-Cité University, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rouleau+E%22">Rouleau E</searchLink>; Cancer Genetics Unit, Department of Biology and Pathology, Institut Gustave Roussy, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Dimaria+M%22">Dimaria M</searchLink>; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Grill+J%22">Grill J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abbou+S%22">Abbou S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Claret+B%22">Claret B</searchLink>; Psycho-Oncology Unit, Interdisciplinary Department of Supportive Care, Gustave Roussy, Université Paris-Saclay, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Brugières+L%22">Brugières L</searchLink>; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.<br /><searchLink fieldCode="AU" term="%22Doz+F%22">Doz F</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bouchoucha+Y%22">Bouchoucha Y</searchLink>; SIREDO Center (Care, Innovation Research in Pediatric, Adolescent and Young Adult Oncology), Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Faure-Conter+C%22">Faure-Conter C</searchLink>; Pediatric Hematology and Oncology Institut, Centre Léon Berard, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Bonadona+V%22">Bonadona V</searchLink>; Clinical Oncogenetics Unit, Department of Prevention and Public Health, Centre Léon Bérard, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mansuy+L%22">Mansuy L</searchLink>; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Nancy, Vandœuvre-lès-Nancy, France.<br /><searchLink fieldCode="AU" term="%22de+Carli+E%22">de Carli E</searchLink>; Pediatric Hematology and Oncology Department, Angers University Hospital, Nancy, France.<br /><searchLink fieldCode="AU" term="%22Ingster+O%22">Ingster O</searchLink>; Department of Genetics, Angers University Hospital, Angers, France.<br /><searchLink fieldCode="AU" term="%22Legrand+C%22">Legrand C</searchLink>; Department of Genetics, Grenoble University Hospital, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Pagnier+A%22">Pagnier A</searchLink>; Department of Pediatric Hematology and Oncology, Centre Hospitalo-Universitaire de Grenoble, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Berthet+P%22">Berthet P</searchLink>; Department of Genetics, Centre François Baclesse, Caen, France.<br /><searchLink fieldCode="AU" term="%22Bodet+D%22">Bodet D</searchLink>; Pediatric Hematology and Oncology Department, Caen University Hospital, Caen, France.<br /><searchLink fieldCode="AU" term="%22Julia+S%22">Julia S</searchLink>; Department of Genetics, Toulouse University Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Bertozzi+AI%22">Bertozzi AI</searchLink>; Pediatric Hematology and Oncology Department, Toulouse University Hospital, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Wilems+M%22">Wilems M</searchLink>; Department of Medical Genetics, Montpellier University Hospital, Institute for Neurosciences of Montpellier, Univ Montpellier, INSERM, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Maurage+CA%22">Maurage CA</searchLink>; Laboratory of Neuropathology, Centre Oscar Lambret, Lille, France.<br /><searchLink fieldCode="AU" term="%22Delattre+O%22">Delattre O</searchLink>; INSERM U830, Cancer, Heterogeneity, Instability and Plasticity Laboratory Institut Curie, Paris, France.<br /><searchLink fieldCode="AU" term="%22Ayrault+O%22">Ayrault O</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Dufour+C%22">Dufour C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bourdeaut+F%22">Bourdeaut F</searchLink>; 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.
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