المؤلفون: Guerrini-Rousseau L; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France lea.guerrini-rousseau@gustaveroussy.fr.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Pasmant E; Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France.; Inserm U1016-CNRS UMR8104, Institut Cochin, Université Paris Cité, CARPEM, Paris, France., Muleris M; Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012 Paris, France., Abbou S; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Adam-De-Beaumais T; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Brugieres L; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Cabaret O; Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France., Colas C; Department of Genetics, Institut Curie, PSL Research University, Paris, France.; Inserm U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe Labellisée Par la Ligue Nationale Contre le Cancer, Institut Curie, PSL Research University, Paris, France., Cotteret S; Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France., Decq P; Neurosurgery Department, Beaujon Hospital, Paris Cité University, Paris, France., Dufour C; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Guillerm E; Department of Genetics, Hôpital Pitié-Salpêtrière. AP-HP. Sorbonne Université, Paris, France.; Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, CRSA, Equipe Instabilité des Microsatellites et Cancer, Equipe labellisée par la Ligue Nationale contre le Cancer, F-75012 Paris, France., Rouleau E; Department of Medical Biology and Pathology, Gustave Roussy Cancer Campus, Villejuif, France., Varlet P; Service de Neuropathologie, GHU Psychiatrie et Neurosciences, site Sainte-Anne, Paris, France., Zili S; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France., Vidaud D; Department of Molecular Genetics, Hôpital Cochin, DMU BioPhyGen, AP-HP Centre-Université Paris Cité, Paris, France., Grill J; Department of Pediatric and Adolescent Oncology, Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.; Molecular Predictors and New Targets in Oncology, Inserm U981 Team 'Genomics and Oncogenesis of pediatric Brain Tumors', Gustave Roussy Cancer Campus, Université Paris-Saclay, Villejuif, France.

المصدر: Journal of medical genetics [J Med Genet] 2024 Jan 19; Vol. 61 (2), pp. 158-162. Date of Electronic Publication: 2024 Jan 19.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neurofibromatosis 1*/diagnosis , Neurofibromatosis 1*/genetics , Neoplastic Syndromes, Hereditary*/genetics , Brain Neoplasms*/genetics , Colorectal Neoplasms*/genetics, Female ; Humans ; Mosaicism ; Retrospective Studies ; Mismatch Repair Endonuclease PMS2/genetics ; DNA Mismatch Repair/genetics

SCR Disease Name: Turcot syndrome

المؤلفون: Gallon R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK. Electronic address: richard.gallon@newcastle.ac.uk., Phelps R; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Hayes C; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brugieres L; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Guerrini-Rousseau L; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France; Team 'Genomics and Oncogenesis of pediatric Brain Tumors,' INSERM U981, Gustave Roussy, Université Paris-Saclay, Villejuif, France., Colas C; Département de Génétique, Institut Curie, Paris, France; INSERM U830, Université de Paris, Paris, France., Muleris M; Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre de Recherche Saint-Antoine, Paris, France., Ryan NAJ; The Academic Women's Health Unit, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK; Department of Gynaecology Oncology, Royal Infirmary of Edinburgh, Edinburgh, UK., Evans DG; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK., Grice H; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Jessop E; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Kunzemann-Martinez A; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK; Centre for Inflammation and Tissue Repair, University College London, London, UK., Marshall L; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Schamschula E; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Oberhuber K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Azizi AA; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Baris Feldman H; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Beilken A; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Brauer N; Pediatric Oncology, Helios-Klinikum, Krefeld, Germany., Brozou T; Department of Pediatric Oncology, Hematology and Clinical Immunology, University Children's Hospital, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany., Dahan K; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium., Demirsoy U; Department of Pediatric Oncology, Kocaeli University, Kocaeli, Turkey., Florkin B; Department of Pediatrics, Citadelle Hospital, University of Liège, Liège, Belgium., Foulkes W; Program in Cancer Genetics, Departments of Oncology and Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada; Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada; Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, Quebec, Canada., Januszkiewicz-Lewandowska D; Department of Pediatric Oncology, Hematology and Transplantation Medical University, Poznan, Poland., Jones KJ; Department of Clinical Genetics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, New South Wales, Australia; University of Sydney School of Medicine, Sydney, New South Wales, Australia., Kratz CP; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Lobitz S; Gemeinschaftsklinikum Mittelrhein, Department of Pediatric Hematology and Oncology, Koblenz, Germany., Meade J; Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania., Nathrath M; Pediatric Hematology and Oncology, Klinikum Kassel, Kassel, Germany; Department of Pediatrics, Pediatric Oncology Center, Technische Universität München, Munich, Germany., Pander HJ; Institut für Klinische Genetik, Olgahospital, Stuttgart, Germany., Perne C; Institute of Human Genetics, Medical Faculty, University of Bonn and National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Ragab I; Pediatrics Department, Hematology-Oncology Unit, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Ripperger T; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Rosenbaum T; Department of Pediatrics, Sana Kliniken Duisburg, Duisburg, Germany., Rueda D; Hereditary Cancer Laboratory, University Hospital Doce de Octubre, i+12 Research Institute, Madrid, Spain., Sarosiek T; Department of Oncology, Luxmed Onkologia, Warsaw, Poland., Sehested A; Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Spier I; Institute of Human Genetics, Medical Faculty, University of Bonn and National Center for Hereditary Tumor Syndromes, University Hospital Bonn, Bonn, Germany., Suerink M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zimmermann SY; Department of Pediatric Hematology and Oncology, Children's Hospital, University Hospital, Frankfurt, Germany., Zschocke J; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Borthwick GM; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Wimmer K; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Burn J; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Jackson MS; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Santibanez-Koref M; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.

المصدر: Gastroenterology [Gastroenterology] 2023 Apr; Vol. 164 (4), pp. 579-592.e8. Date of Electronic Publication: 2022 Dec 29.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

مواضيع طبية MeSH: Colorectal Neoplasms, Hereditary Nonpolyposis*/genetics , Neoplastic Syndromes, Hereditary*/diagnosis , Neoplastic Syndromes, Hereditary*/genetics , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/diagnosis , Brain Neoplasms*/diagnosis, Humans ; Microsatellite Instability ; Genotype ; DNA Mismatch Repair/genetics ; Mismatch Repair Endonuclease PMS2/genetics

SCR Disease Name: Turcot syndrome

المؤلفون: Aronson M; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada Melyssa.Aronson@sinaihealth.ca.; Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada., Colas C; Département de génétique, Institut Curie, Université Paris Sciences Lettres, Paris, France., Shuen A; Sickkids, Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Hampel H; Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Foulkes WD; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, Quebec, Canada., Baris Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Tel Aviv University Sackler Faculty of Medicine, Tel Aviv, Israel., Goldberg Y; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; The Raphael Recanati Genetic Institute, Rabin Medical Center - Beilinson Hospital, Petah Tikva, Israel., Muleris M; Inserm, Centre de Recherche Saint-Antoine, CRSA, Sorbonne Université, Paris, France., Wolfe Schneider K; Section of Hematology, Oncology and Bone Marrow Transplantation, Children's Hospital Colorado, University of Colorado - Anschutz Medical Campus, Aurora, Colorado, USA., McGee RB; Department of Oncology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Jasperson K; Ambry Genetics, Aliso Viejo, California, USA., Rangaswami A; Department of Pediatrics/Division of Hematology-Oncology, University of California San Francisco, San Francisco, California, USA., Brugieres L; Department of Children and Adolescents Oncology, Gustave Roussy, Villejuif, France.; Paris-Saclay University, Saint-Aubin, France., Tabori U; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.; University of Toronto Faculty of Medicine, Toronto, Ontario, Canada.

المصدر: Journal of medical genetics [J Med Genet] 2022 Apr; Vol. 59 (4), pp. 318-327. Date of Electronic Publication: 2021 Feb 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms*/diagnosis , Brain Neoplasms*/genetics , Brain Neoplasms*/therapy , Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/epidemiology , Colorectal Neoplasms*/genetics , Neoplastic Syndromes, Hereditary*/diagnosis , Neoplastic Syndromes, Hereditary*/genetics , Neoplastic Syndromes, Hereditary*/therapy, Consensus ; DNA Mismatch Repair/genetics ; Humans ; Mismatch Repair Endonuclease PMS2/genetics

SCR Disease Name: Turcot syndrome

المؤلفون: Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. m.suerink@lumc.nl., Wimmer K; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Brugieres L; Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France., Colas C; Department of Genetics, Institut Curie, Université de Recherche Paris Sciences et Lettres, Paris, France., Gallon R; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Ripperger T; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Benusiglio PR; Sorbonne Université, Inserm, Unité Mixte de Recherche Scientifique 938, Equipe Instabilité Des Microsatellites et Cancer Centre de Recherche Saint-Antoine, CRSA, Paris, France.; Unité Fonctionnelle d'Oncogénétique, Département de Génétique et Institut Universitaire de Cancérologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Sorbonne Université, 75013, Paris, France., Bleiker EMA; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Division of Psychosocial Research and Epidemiology & Family Cancer Clinic, The Netherlands Cancer Institute, Amsterdam, The Netherlands., Ghorbanoghli Z; The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden, The Netherlands.; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands., Goldberg Y; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel., Hardwick JCH; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands., Kloor M; Department of Applied Tumor Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Clinical Cooperation Unit Applied Tumor Biology, DKFZ (German Cancer Research Center) Heidelberg, Heidelberg, Germany., le Mentec M; Department of Genetics, Institut Curie, Université de Recherche Paris Sciences et Lettres, Paris, France., Muleris M; Sorbonne Université, Inserm, Unité Mixte de Recherche Scientifique 938, Equipe Instabilité Des Microsatellites et Cancer Centre de Recherche Saint-Antoine, CRSA, Paris, France., Pineda M; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Hospitalet de Llobregat, Barcelona, Catalonia, Spain.; Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain., Ruiz-Ponte C; Fundacion Publica Galega de Medicina Xenomica, SERGAS, Instituto de Investigacion Sanitaria de Santiago (IDIS), Grupo de Medicina Xenomica-USC, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), 15706, Santiago de Compostela, Spain., Vasen HFA; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands.

المصدر: Familial cancer [Fam Cancer] 2021 Jan; Vol. 20 (1), pp. 67-73. Date of Electronic Publication: 2020 Jul 02.

نوع المنشور: Congress

بيانات الدورية: Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7292 (Electronic) Linking ISSN: 13899600 NLM ISO Abbreviation: Fam Cancer Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms*/diagnosis , Brain Neoplasms*/genetics , Brain Neoplasms*/therapy , Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/therapy , Neoplastic Syndromes, Hereditary*/diagnosis , Neoplastic Syndromes, Hereditary*/genetics , Neoplastic Syndromes, Hereditary*/therapy, DNA Mismatch Repair/*genetics, Adolescent ; Child ; Colonoscopy ; DNA Polymerase II/genetics ; DNA Polymerase III/genetics ; Diagnosis, Differential ; Genetic Counseling ; Germ-Line Mutation ; Guidelines as Topic ; Humans ; Immune Checkpoint Inhibitors/therapeutic use ; Li-Fraumeni Syndrome/psychology ; Lupus Erythematosus, Systemic/genetics ; Netherlands ; Poly-ADP-Ribose Binding Proteins/genetics ; Vaccination ; Young Adult

SCR Disease Name: Turcot syndrome

المؤلفون: Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Ripperger T; Department of Human Genetics, Hannover Medical School, Hannover, Germany., Messiaen L; Department of Genetics, University of Alabama, Birmingham, Alabama, USA., Menko FH; Family Cancer Clinic, Antoni van Leeuwenhoek Hospital and The Netherlands Cancer Institute, Amsterdam, The Netherlands., Bourdeaut F; Département d'Oncologie Pédiatrique et d'Adolescents Jeunes Adultes, Institut Curie, Paris, France., Colas C; Department of Genetics, Institut Curie, Paris Sciences Lettres Research University, Paris, France.; Centre de Recherche Saint-Antoine, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Paris, France., Jongmans M; Princess Máxima Center for Pediatric Oncology, Utrecht, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Goldberg Y; Recanati Genetics Institute, Beilinson Hospital, Rabin Medical Center, Petah Tikva, Israel., Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Muleris M; Centre de Recherche Saint-Antoine, Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Paris, France., van Kouwen M; Department of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands., Slavc I; Department of Pediatrics, Medical University Vienna, Vienna, Austria., Kratz C; Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany., Vasen HF; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Leiden, The Netherlands., Brugiѐres L; Children and Adolescent Oncology Department, Gustave Roussy Cancer Institute, Villejuif, France., Legius E; Department of Human Genetics, University Hospital Leuven and KU Leuven, Leuven, Belgium., Wimmer K; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

المصدر: Journal of medical genetics [J Med Genet] 2019 Feb; Vol. 56 (2), pp. 53-62. Date of Electronic Publication: 2018 Nov 10.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms/*diagnosis , Brain Neoplasms/*genetics , Colorectal Neoplasms/*diagnosis , Colorectal Neoplasms/*genetics , Neoplastic Syndromes, Hereditary/*diagnosis , Neoplastic Syndromes, Hereditary/*genetics , Neurofibromatosis 1/*diagnosis, Adaptor Proteins, Signal Transducing/genetics ; Brain Neoplasms/epidemiology ; Colorectal Neoplasms/epidemiology ; Diagnosis, Differential ; Genetic Counseling ; Genetic Testing ; Humans ; Incidence ; Mismatch Repair Endonuclease PMS2/genetics ; MutL Protein Homolog 1/genetics ; Mutation ; Neoplastic Syndromes, Hereditary/epidemiology ; Neurofibromatosis 1/genetics ; Parents ; Patient Selection ; Practice Guidelines as Topic

SCR Disease Name: Turcot syndrome

المؤلفون: Lavoine N; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Campus, Villejuif, France., Colas C; Laboratory of Oncogenetics and Angiogenetics, Genetics Department, Pitié-Salpêtrière University Hospital, APHP, Paris, France INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Muleris M; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Bodo S; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Duval A; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Entz-Werle N; Department of Pediatric Oncology, Strasbourg University Hospital, Strasbourg, France., Coulet F; Laboratory of Oncogenetics and Angiogenetics, Genetics Department, Pitié-Salpêtrière University Hospital, APHP, Paris, France., Cabaret O; Department of Biology and Medical Pathology, Unit of Genetics, Gustave Roussy Cancer Campus, Villejuif, France., Andreiuolo F; Department of Neuropathology, Sainte-Anne Hospital, APHP, Paris, France., Charpy C; Department of Pathology, Gustave Roussy Cancer Institute, Villejuif, France., Sebille G; Department of Dermatology, Gustave Roussy Cancer Institute, Villejuif, France., Wang Q; Plateforme mixte de génétique constitutionnelle des cancers fréquents HCL-CLB, Centre Léon Bérard, Lyon, France., Lejeune S; Unit of Molecular Oncology and Genetics, Institute of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France., Buisine MP; Unit of Molecular Oncology and Genetics, Institute of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France Inserm UMR837, Lille, France North of France University, Lille, France., Leroux D; Department of Genetics, Grenoble University Hospital, Grenoble, France., Couillault G; Département of Pediatrics, Dijon University Hospital, Dijon, France., Leverger G; Paediatric Onco-Haematology Unit, APHP, Armand Trousseau Hospital, UPMC Univ Paris 06, France., Fricker JP; Department of Oncogenetics, Centre Paul Strauss, Strasbourg, France., Guimbaud R; Department of Digestive Oncology, Claudius Régaud Institute and Toulouse University Hospital, Toulouse, France., Mathieu-Dramard M; Unit of Medical Genetics, Amiens University Hospital, Amiens, France., Jedraszak G; Unit of Medical Genetics, Amiens University Hospital, Amiens, France., Cohen-Hagenauer O; Department of Oncogenetics, Saint-Louis University Hospital, APHP, Paris, France., Guerrini-Rousseau L; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Campus, Villejuif, France., Bourdeaut F; Department of Pediatric Oncology, Curie Institute, Paris, France., Grill J; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Campus, Villejuif, France CNRS UMR 8203 'Vectorology & Anticancer Treatments,' Gustave Roussy & Paris-Sud University, Villejuif, France., Caron O; Department of Medical Oncology, Gustave Roussy Cancer Campus, Villejuif, France., Baert-Dusermont S; Laboratory of Genetics, Rouen University Hospital, Rouen, France., Tinat J; Laboratory of Genetics, Rouen University Hospital, Rouen, France., Bougeard G; Laboratory of Genetics, Rouen University Hospital, Rouen, France., Frébourg T; Laboratory of Genetics, Rouen University Hospital, Rouen, France., Brugières L; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Campus, Villejuif, France.

المصدر: Journal of medical genetics [J Med Genet] 2015 Nov; Vol. 52 (11), pp. 770-8. Date of Electronic Publication: 2015 Aug 28.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Brain Neoplasms/*diagnosis , Colorectal Neoplasms/*diagnosis , Neoplastic Syndromes, Hereditary/*diagnosis, Adaptor Proteins, Signal Transducing/genetics ; Adenosine Triphosphatases/genetics ; Adolescent ; Adult ; Brain Neoplasms/genetics ; Brain Neoplasms/therapy ; Child ; Child, Preschool ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/therapy ; DNA Repair Enzymes/genetics ; DNA-Binding Proteins/genetics ; Female ; Humans ; Infant ; Male ; Mismatch Repair Endonuclease PMS2 ; MutL Protein Homolog 1 ; MutS Homolog 2 Protein/genetics ; Mutation ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/therapy ; Nuclear Proteins/genetics ; Treatment Outcome ; Young Adult

SCR Disease Name: Turcot syndrome

المؤلفون: Bodo S; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Colas C; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France; AP-HP, Laboratoire d'Oncogénétique et d'Angiogénétique, GH Pitié-Salpétrière, Paris, France., Buhard O; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Collura A; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Tinat J; Département de génétique, Hôpital universitaire, Rouen, France., Lavoine N; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Institute, Villejuif, France., Guilloux A; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Chalastanis A; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Lafitte P; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Coulet F; UPMC Univ Paris, Paris, France; AP-HP, Laboratoire d'Oncogénétique et d'Angiogénétique, GH Pitié-Salpétrière, Paris, France., Buisine MP; Institut de Biochimie et Biologie moléculaire, Oncologie et Génétique Moléculaires, CHRU Lille, Lille, France; INSERM UMR837 et Université Lille, Lille, France., Ilencikova D; 2nd Pediatric Department, Children's University Hospital, Comenius University, Bratislava, Slovakia., Ruiz-Ponte C; Fundación Pública Galega de Medicina Xenómica (FPGMX) SERGAS, Grupo de Medicina Xenómica, IDIS, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERer), Santiago de Compostela, Spain., Kinzel M; Praxis für Medizinische Genetik, Berlin, Germany., Grandjouan S; CHU Cochin, faculté René Descartes Paris-V, Paris, France., Brems H; Department of Human Genetics, KU Leuven, Leuven, Belgium., Lejeune S; CHRU Lille, Service de génétique clinique, Lille, France., Blanché H; CEPH, Fondation Jean Dausset, Institut de Génétique Moléculaire, Paris, France., Wang Q; Plateforme de Génétique constitutionnelle HCL-CLB, Laboratoire de recherche translationnelle, Centre Léon Bérard, Lyon, France., Caron O; Department of Medical Oncology, Gustave Roussy Cancer Institute, Villejuif, France., Cabaret O; Service de Génétique, Département de Biologie et Pathologie Médicales, Institut Gustave Roussy, Villejuif, France., Svrcek M; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France; AP-HP, Hôpital Saint-Antoine, Service d'Anatomie et Cytologie Pathologiques, Paris, France., Vidaud D; INSERM UMR745 Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France., Parfait B; INSERM UMR745 Université Paris Descartes, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France., Verloes A; AP-HP, Département de Génétique and INSERM UMR 1141 PROTECT, Hôpital Robert Debré, Paris, France., Knappe UJ; Department of Neurosurgery, Johannes Wesling Klinikum, Minden, Germany., Soubrier F; AP-HP, Département de génétique, GH Pitié-Salpêtrière, Paris, France., Mortemousque I; CHRU de Tours, Service de Génétique, Tours, France., Leis A; French Medical Institute for Children, Kabul, Afghanistan., Auclair-Perrossier J; Plateforme de Génétique constitutionnelle HCL-CLB, Laboratoire de recherche translationnelle, Centre Léon Bérard, Lyon, France., Frébourg T; Département de génétique, Hôpital universitaire, Rouen, France., Fléjou JF; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France; AP-HP, Hôpital Saint-Antoine, Service d'Anatomie et Cytologie Pathologiques, Paris, France., Entz-Werle N; Pédiatrie Onco-Hématologie Pédiatrie CHRU Hautepierre UdS EA, Strasbourg, France., Leclerc J; Institut de Biochimie et Biologie moléculaire, Oncologie et Génétique Moléculaires, CHRU Lille, Lille, France; INSERM UMR837 et Université Lille, Lille, France., Malka D; Department of Cancer Medicine, Gustave Roussy, Villejuif, France., Cohen-Haguenauer O; Service d'Oncologie Médicale, Hôpital Saint-Louis, Paris, France., Goldberg Y; Sharett Institute of Oncology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospital, Copenhagen, Denmark., Fedhila F; Service de médecine infantile, hôpital d'enfants de Tunis, Tunis, Tunisia., Mathieu-Dramard M; Unit of medical Genetics, Amiens University Hospital, Amiens, France., Hamelin R; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France., Wafaa B; Department of Hepato-Gastro-Enterology, Ibn Rochd, Hospital University Center, Casablanca, Morocco., Gauthier-Villars M; Service de Génétique, Institut Curie, Paris, France., Bourdeaut F; Department of Pediatric Oncology and INSERM U830, Institut Curie, Paris, France., Sheridan E; Department of Molecular Medicine, University of Leeds, Leeds, United Kingdom., Vasen H; Department of Gastroenterology and Hepatology, Leiden University Medical Centre, Leiden, The Netherlands., Brugières L; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Institute, Villejuif, France., Wimmer K; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Muleris M; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France. Electronic address: martine.muleris@inserm.fr., Duval A; INSERM, UMR_S 938 Centre de Recherche Saint-Antoine, Equipe Instabilité des Microsatellites et Cancer, équipe labellisée par la Ligue Nationle contre le Cancer, Paris, France; UPMC Univ Paris, Paris, France. Electronic address: alex.duval@inserm.fr.

مؤلفون مشاركون: European Consortium “Care for CMMRD”

المصدر: Gastroenterology [Gastroenterology] 2015 Oct; Vol. 149 (4), pp. 1017-29.e3. Date of Electronic Publication: 2015 Jun 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Validation Study

بيانات الدورية: Publisher: W.B. Saunders Country of Publication: United States NLM ID: 0374630 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0012 (Electronic) Linking ISSN: 00165085 NLM ISO Abbreviation: Gastroenterology Subsets: MEDLINE

مواضيع طبية MeSH: Drug Resistance, Neoplasm* , Genetic Testing*/methods , Germ-Line Mutation* , Microsatellite Instability*, Antineoplastic Agents, Alkylating/*therapeutic use , Biomarkers, Tumor/*genetics , Brain Neoplasms/*diagnosis , Colorectal Neoplasms/*diagnosis , Colorectal Neoplasms, Hereditary Nonpolyposis/*diagnosis , Lymphocytes/*drug effects , Neoplastic Syndromes, Hereditary/*diagnosis, Adaptor Proteins, Signal Transducing/genetics ; Adenosine Triphosphatases/genetics ; Adult ; Brain Neoplasms/drug therapy ; Brain Neoplasms/genetics ; Brain Neoplasms/metabolism ; Brain Neoplasms/pathology ; Caco-2 Cells ; Case-Control Studies ; Colorectal Neoplasms/drug therapy ; Colorectal Neoplasms/genetics ; Colorectal Neoplasms/metabolism ; Colorectal Neoplasms/pathology ; Colorectal Neoplasms, Hereditary Nonpolyposis/drug therapy ; Colorectal Neoplasms, Hereditary Nonpolyposis/genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis/metabolism ; Colorectal Neoplasms, Hereditary Nonpolyposis/pathology ; DNA Mutational Analysis ; DNA Repair Enzymes/genetics ; DNA-Binding Proteins/genetics ; Female ; Genetic Predisposition to Disease ; HCT116 Cells ; Heredity ; Humans ; Lymphocytes/metabolism ; Male ; Methylation ; Mismatch Repair Endonuclease PMS2 ; Multiplex Polymerase Chain Reaction ; MutL Protein Homolog 1 ; MutS Homolog 2 Protein/genetics ; Neoplastic Syndromes, Hereditary/drug therapy ; Neoplastic Syndromes, Hereditary/genetics ; Neoplastic Syndromes, Hereditary/metabolism ; Neoplastic Syndromes, Hereditary/pathology ; Nuclear Proteins/genetics ; Phenotype ; Predictive Value of Tests ; Reproducibility of Results ; Transfection ; Young Adult

SCR Disease Name: Turcot syndrome

المؤلفون: Wimmer K; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Kratz CP; Department of Pediatric Hematology & Oncology, Hannover Medical School, Hannover, Germany., Vasen HF; Department of Gastroenterology & Hepatology, Leiden University Medical Centre, Leiden, The Netherlands., Caron O; Department of Medical Oncology, Gustave Roussy Cancer Institute, Villejuif, France., Colas C; Department of Genetics, Pitié Salpêtrière Hospital, AP-HP, Paris, France INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Entz-Werle N; Pédiatrie Onco-Hématologie-Pédiatrie III-CHRU Hautepierre UdS-EA 3430, Strasbourg, France., Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospital, Copenhagen, Denmark., Goldberg Y; Department of Oncology, Sharret Institute, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Ilencikova D; 2nd Pediatric Department of Children University Hospital, Comenius University, Bratislava, Slovakia., Muleris M; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Duval A; INSERM, UMR_S 938, CDR Saint-Antoine, Paris, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 938, CDR Saint-Antoine, Paris, France., Lavoine N; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Institute, Villejuif, France., Ruiz-Ponte C; Fundación Pública Galega de Medicina Xenómica (FPGMX) SERGAS, Grupo de Medicina Xenómica, IDIS, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERer), Santiago de Compostela, Spain., Slavc I; Department of Pediatrics, Medical University of Vienna, Vienna, Austria., Burkhardt B; Department of Pediatric Hematology and Oncology, University Children's Hospital, Münster, Germany., Brugieres L; Department of Children and Adolescents Oncology, Gustave Roussy Cancer Institute, Villejuif, France.

مؤلفون مشاركون: EU-Consortium Care for CMMRD (C4CMMRD)

المصدر: Journal of medical genetics [J Med Genet] 2014 Jun; Vol. 51 (6), pp. 355-65. Date of Electronic Publication: 2014 Apr 15.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Neoplastic Syndromes, Hereditary*/diagnosis , Neoplastic Syndromes, Hereditary*/genetics , Neoplastic Syndromes, Hereditary*/physiopathology, Brain Neoplasms ; Colorectal Neoplasms ; Colorectal Neoplasms, Hereditary Nonpolyposis ; Europe ; Humans ; Pigmentation Disorders

SCR Disease Name: Turcot syndrome

المؤلفون: Bodo, S., Colas, C., Buhard, O., Collura, A., Tinat, J., Lavoine, N., Guilloux, A., Chalastanis, A., Lafitte, P., Coulet, F., Buisine, M.P., Ilencikova, D., Ruiz-Ponte, C., Kinzel, M., Grandjouan, S., Brems, H.I., Lejeune, S., Blanche, H., Wang, Q., Caron, O., Cabaret, O., Syrcek, M.L., Vidaud, D., Parfait, B., Verloes, A., Knappe, U.J., Soubrier, F., Mortemousque, I., Leis, A., Auclair-Perrossier, J., Frebourg, T., Flejou, J.F., Entz-Werle, N., Leclerc, J., Malka, D., Cohen-Haguenauer, O., Goldberg, Y., Gerdes, A.M., Fedhila, F., Mathieu-Dramard, M., Lin, R.H., Wafaa, B., Gauthier-Villars, M., Bourdeaut, F., Sheridan, E., Vasen, H., Brugieres, L., Wimmer, K., Muleris, M., Duva, A., European Consortium Care CMMRD

المصدر: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

مصطلحات موضوعية: Male, Heredity, DNA Mutational Analysis, Predisposition, Bioinformatics, PMS2, Lymphocytes, Mismatch Repair Endonuclease PMS2, Adenosine Triphosphatases, Tumor, Colon Cancer, Brain Neoplasms, Gastroenterology, Nuclear Proteins, Lynch syndrome, DNA-Binding Proteins, MutS Homolog 2 Protein, Phenotype, DNA mismatch repair, Female, Microsatellite Instability, Colorectal Neoplasms, MutL Protein Homolog 1, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Biology, MLH1, Transfection, Methylation, Young Adult, Germline mutation, Neoplastic Syndromes, Hereditary, Predictive Value of Tests, medicine, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Genetic Testing, Antineoplastic Agents, Alkylating, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Hepatology, Microsatellite instability, Reproducibility of Results, medicine.disease, Functional Tests, HCT116 Cells, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, MSH6, DNA Repair Enzymes, MSH2, Drug Resistance, Neoplasm, Case-Control Studies, Cancer research, Caco-2 Cells, Multiplex Polymerase Chain Reaction

وصف الملف: Print-Electronic; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c1efb9499e981c6474fa6b3f83f81a7
https://lirias.kuleuven.be/handle/123456789/501985