Germline Elongator mutations in Sonic Hedgehog medulloblastoma.

Cerebellar Neoplasms / genetics Child Female Germ-Line Mutation Humans Male Medulloblastoma / genetics Pedigree RNA, Transfer / metabolism Transcriptional Elongation Factors / genetics

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
04 2020
Historique:
received: 10 06 2019
accepted: 30 01 2020
entrez: 17 4 2020
pubmed: 17 4 2020
medline: 10 5 2020
Statut: ppublish

Résumé

Cancer genomics has revealed many genes and core molecular processes that contribute to human malignancies, but the genetic and molecular bases of many rare cancers remains unclear. Genetic predisposition accounts for 5 to 10% of cancer diagnoses in children

Identifiants

DOI: 10.1038/s41586-020-2164-5 PMID: 32296180 PMC: PMC7430762
pubmed: 32296180
doi: 10.1038/s41586-020-2164-5
pii: 10.1038/s41586-020-2164-5
pmc: PMC7430762
mid: NIHMS1610899
doi:

Substances chimiques

Elp1 protein, human 0
Transcriptional Elongation Factors 0
RNA, Transfer 9014-25-9

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

396-401

Subventions

Organisme : NCI NIH HHS
ID : R01 CA232143
Pays : United States

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Auteurs

Sebastian M Waszak (SM)

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
ORCID: 0000-0003-3042-9521

Giles W Robinson (GW)

Department of Oncology, Division of Neuro-Oncology, St Jude Children's Research Hospital, Memphis, TN, USA.
ORCID: 0000-0001-7441-9486

Brian L Gudenas (BL)

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.

Kyle S Smith (KS)

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.

Antoine Forget (A)

Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.

Marija Kojic (M)

Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.
ORCID: 0000-0001-6437-283X

Jesus Garcia-Lopez (J)

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.

Jennifer Hadley (J)

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA.
ORCID: 0000-0003-1918-747X

Kayla V Hamilton (KV)

Department of Oncology, Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, TN, USA.

Emilie Indersie (E)

Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.

Ivo Buchhalter (I)

Omics IT and Data Management Core Facility (W610), German Cancer Research Center (DKFZ), Heidelberg, Germany.
ORCID: 0000-0003-0764-5832

Jules Kerssemakers (J)

Omics IT and Data Management Core Facility (W610), German Cancer Research Center (DKFZ), Heidelberg, Germany.

Natalie Jäger (N)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.

Tanvi Sharma (T)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
ORCID: 0000-0002-0850-1673

Tobias Rausch (T)

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany.
ORCID: 0000-0001-5773-5620

Marcel Kool (M)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.

Dominik Sturm (D)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Pediatric Glioma Research Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.
ORCID: 0000-0003-0250-1696

David T W Jones (DTW)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Pediatric Glioma Research Group, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Aksana Vasilyeva (A)

Cancer Center Administration, St Jude Children's Research Hospital, Memphis, TN, USA.

Ruth G Tatevossian (RG)

Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.
ORCID: 0000-0002-1653-3026

Geoffrey Neale (G)

Hartwell Center, St Jude Children's Research Hospital, Memphis, TN, USA.
ORCID: 0000-0003-3776-0858

Bérangère Lombard (B)

Institut Curie, PSL Research University, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, Paris, France.

Damarys Loew (D)

Institut Curie, PSL Research University, Centre de Recherche, Laboratoire de Spectrométrie de Masse Protéomique, Paris, France.
ORCID: 0000-0002-9111-8842

Joy Nakitandwe (J)

Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.

Michael Rusch (M)

Department of Computational Biology, St Jude Children's Research Hospital, Memphis, TN, USA.
ORCID: 0000-0002-5363-1848

Daniel C Bowers (DC)

Division of Pediatric Hematology-Oncology, University of Texas Southwestern Medical School, Dallas, TX, USA.
ORCID: 0000-0002-3947-2481

Anne Bendel (A)

Department of Pediatric Hematology and Oncology, Children's Hospitals and Clinics of Minnesota, Minnesota, MN, USA.

Sonia Partap (S)

Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA, USA.

Murali Chintagumpala (M)

Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX, USA.

John Crawford (J)

Department of Neurosciences, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.
Department of Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA.

Nicholas G Gottardo (NG)

Department of Paediatric and Adolescent Oncology/Haematology, Perth Children's Hospital and Brain Tumour Research Programme, Telethon Kids Institute, Perth, Western Australia, Australia.

Amy Smith (A)

Arnold Palmer Hospital Center for Children's Cancer, Orlando, FL, USA.

Christelle Dufour (C)

Gustave Roussy, Université Paris-Saclay, Department of Pediatric and Adolescent Oncology, Villejuif, France.

Stefan Rutkowski (S)

Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Tone Eggen (T)

The Cancer Registry of Norway, Majorstuen, Oslo, Norway.

Finn Wesenberg (F)

Department of Research, Cancer Registry of Norway, Institute of Population-Based Cancer Research, Oslo, Norway.

Kristina Kjaerheim (K)

Department of Research, Cancer Registry of Norway, Institute of Population-Based Cancer Research, Oslo, Norway.

Maria Feychting (M)

Institute of Environmental Medicine, Karolinska Institutet, Stockholm, Sweden.

Birgitta Lannering (B)

Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden.

Joachim Schüz (J)

Section of Environment and Radiation, International Agency for Research on Cancer (IARC), Lyon, France.

Christoffer Johansen (C)

Oncology Clinic, Finsen Centre, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Danish Cancer Society Research Center, Danish Cancer Society, Copenhagen, Denmark.

Tina V Andersen (TV)

Department of Epidemiology and Public Health, Swiss Tropical and Public Health Institute, University of Basel, Basel, Switzerland.

Martin Röösli (M)

Swiss Childhood Cancer Registry, Institute of Social and Preventive Medicine University of Bern, Bern, Switzerland.

Claudia E Kuehni (CE)

Swiss Childhood Cancer Registry, Institute of Social and Preventive Medicine University of Bern, Bern, Switzerland.
Department of Paediatric Haematology and Oncology, University Children's Hospital, Bern, Switzerland.

Michael Grotzer (M)

University Children's Hospital of Zurich, Zurich, Switzerland.

Marc Remke (M)

Department of Pediatric Oncology, Hematology, and Clinical Immunology, Medical Faculty, University Hospital Düsseldorf, Düsseldorf, Germany.

Stéphanie Puget (S)

Department of Pediatric Neurosurgery, Necker Hospital, Université de Paris, Paris, France.

Kristian W Pajtler (KW)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.

Till Milde (T)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Olaf Witt (O)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Clinical Cooperation Unit Pediatric Oncology, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Marina Ryzhova (M)

Department of Neuropathology, Burdenko Neurosurgical Institute, Moscow, Russia.

Andrey Korshunov (A)

Clinical Cooperation Unit Neuropathology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Department of Neuropathology, University Hospital, Heidelberg, Germany.

Brent A Orr (BA)

Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.
ORCID: 0000-0003-0997-4728

David W Ellison (DW)

Department of Pathology, St Jude Children's Research Hospital, Memphis, TN, USA.

Laurence Brugieres (L)

Gustave Roussy, Université Paris-Saclay, Department of Pediatric and Adolescent Oncology, Villejuif, France.

Peter Lichter (P)

Division of Molecular Genetics, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center Heidelberg (DKFZ), Heidelberg, Germany.

Kim E Nichols (KE)

Department of Oncology, Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, TN, USA.

Amar Gajjar (A)

Department of Oncology, Division of Neuro-Oncology, St Jude Children's Research Hospital, Memphis, TN, USA.

Brandon J Wainwright (BJ)

Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland, Australia.

Olivier Ayrault (O)

Université Paris Sud, Université Paris-Saclay, CNRS UMR 3347, INSERM U1021, Orsay, France.

Jan O Korbel (JO)

European Molecular Biology Laboratory (EMBL), Genome Biology Unit, Heidelberg, Germany. jan.korbel@embl.org.
ORCID: 0000-0002-2798-3794

Paul A Northcott (PA)

Department of Developmental Neurobiology, St Jude Children's Research Hospital, Memphis, TN, USA. paul.northcott@stjude.org.
ORCID: 0000-0002-1220-5252

Stefan M Pfister (SM)

Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany. s.pfister@kitz-heidelberg.de.
Division of Pediatric Neurooncology, German Consortium for Translational Cancer Research (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany. s.pfister@kitz-heidelberg.de.
Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany. s.pfister@kitz-heidelberg.de.

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Classifications MeSH

questionsmedicales.fr › Maladies du système nerveux › Tumeurs du système nerveux › Tumeurs du système nerveux central › Tumeurs du cerveau › Tumeurs sous-tentorielles › Tumeurs du cervelet › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs du tissu nerveux › Tumeurs neuroectodermiques › Tumeurs neuroépitheliales › Tumeurs neuroectodermiques primitives › Médulloblastome › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › Germline Elongator mutations in Sonic Hedgehog...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs d'élongation transcriptionnelle › Germline Elongator mutations in Sonic Hedgehog...