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Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.

Autor: Paganini I; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Capone GL; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Vitte J; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA and Jonsson Comprehensive Cancer Center (JCCC), University of California Los Angeles, Los Angeles, CA, 90095, USA., Sestini R; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Putignano AL; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Giovannini M; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA and Jonsson Comprehensive Cancer Center (JCCC), University of California Los Angeles, Los Angeles, CA, 90095, USA., Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy. laura.papi@unifi.it.

Publikováno v: Journal of neuro-oncology [J Neurooncol] 2018 Mar; Vol. 137 (1), pp. 33-38. Date of Electronic Publication: 2017 Dec 11.

A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency.

Autor: Paganini I; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy., Sestini R; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy., Capone GL; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy., Putignano AL; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy., Contini E; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy., Giotti I; Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy., Gensini F; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy., Marozza A; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy.; Medical Genetics Unit, Careggi University Hospital, Florence, Italy., Barilaro A; Neurology Unit, Careggi University Hospital, Florence, Italy., Porfirio B; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy., Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio,' Medical Genetics Unit, University of Florence, Florence, Italy.

Publikováno v: Clinical genetics [Clin Genet] 2017 Dec; Vol. 92 (6), pp. 664-668. Date of Electronic Publication: 2017 Oct 24.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Autor: Peterlongo P; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, paolo.peterlongo@ifom.eu., Catucci I; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine., Colombo M; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine., Caleca L; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine., Mucaki E; Department of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada., Bogliolo M; Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain., Marin M; Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain., Damiola F; Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France., Bernard L; Department of Experimental Oncology and Cogentech, Cancer Genetic Test Laboratory, Milan, Italy., Pensotti V; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy., Volorio S; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy., Dall'Olio V; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Cogentech, Cancer Genetic Test Laboratory, Milan, Italy., Meindl A; Division of Gynaecology and Obstetrics, Technische Universität München, Munich, Germany., Bartram C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany., Sutter C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany., Surowy H; Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology, University Hospital Heidelberg, Heidelberg, Germany, Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany., Sornin V; Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France., Dondon MG; INSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France., Eon-Marchais S; INSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France., Stoppa-Lyonnet D; Service de Génétique Oncologique, Institut Curie, Paris, France, INSERM, U830, Paris, France, Université Paris-Descartes, Paris, France., Andrieu N; INSERM, U900, Paris, France, Institut Curie, Paris, France, Mines ParisTech, Fontainebleau, France., Sinilnikova OM; Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France, Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France., Mitchell G; Familial Cancer Centre, Sir Peter MacCallum Department of Oncology and., James PA; Familial Cancer Centre, Sir Peter MacCallum Department of Oncology and., Thompson E; Cancer Genetics Laboratory and Sir Peter MacCallum Department of Oncology and., Marchetti M; Department of Immunohematology and Transfusion Medicine and., Verzeroli C; Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia., Tartari C; Department of Immunohematology and Transfusion Medicine and., Capone GL; Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy., Putignano AL; Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy., Genuardi M; Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy, FiorGen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy, Institute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University, Rome, Italy., Medici V; Dipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy., Marchi I; Dipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy., Federico M; Dipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy., Tognazzo S; Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy., Matricardi L; Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy., Agata S; Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy., Dolcetti R; Cancer Bio-Immunotherapy Unit and., Della Puppa L; Unit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy., Cini G; Unit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy., Gismondi V; Unit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy., Viassolo V; Unit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy., Perfumo C; Unit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy., Mencarelli MA; Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Baldassarri M; Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Peissel B; Unit of Medical Genetics, Department of Preventive and Predictive Medicine., Roversi G; Unit of Medical Genetics, Department of Preventive and Predictive Medicine., Silvestri V; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Rizzolo P; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Spina F; SC Medical Genetics, ASl8 Cagliari, Cagliari, Italy., Vivanet C; SC Medical Genetics, ASl8 Cagliari, Cagliari, Italy., Tibiletti MG; Unit of Pathology, Ospedale di Circolo, Varese, Italy., Caligo MA; Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy., Gambino G; Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy., Tommasi S; IRCCS Istituto Tumori 'Giovanni Paolo II', Molecular Genetics Laboratory, Bari, Italy., Pilato B; IRCCS Istituto Tumori 'Giovanni Paolo II', Molecular Genetics Laboratory, Bari, Italy., Tondini C; Unit of Medical Oncology, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy., Corna C; Unit of Medical Oncology, Azienda Ospedaliera Papa Giovanni XXIII, Bergamo, Italy., Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy., Barile M; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy., Osorio A; Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain, Spanish Genotyping Centre (CEGEN), Madrid, Spain., Benitez J; Human Cancer Genetics Programme, Spanish National Cancer Centre (CNIO), Madrid, Spain, Spanish Genotyping Centre (CEGEN), Madrid, Spain., Balestrino L; SC Medical Genetics, ASl8 Cagliari, Cagliari, Italy., Ottini L; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine., Pierotti MA; Scientific Directorate and., Renieri A; Medical Genetics, University of Siena, Siena, Italy, Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Varesco L; Unit of Hereditary Cancers, IRCCS AOU San Martino - IST, Genoa, Italy., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Wang X; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Devilee P; Department of Human Genetics, Department of Pathology and., Hilbers FS; Department of Human Genetics., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Viel A; Unit of Experimental Oncology 1, CRO Aviano National Cancer Institute, Aviano (PN), Italy., Montagna M; Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy., Cortesi L; Dipartimento di Oncologia, Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia, Modena, Italy., Diez O; Oncogenetics Group, Hospital Universitari de la Vall d'Hebron, Barcelona, Spain, Vall d́Hebron Institute of Oncology (VHIO), Barcelona, Spain, Universitat Autònoma de Barcelona, Barcelona, Spain., Balmaña J; Vall d́Hebron Institute of Oncology (VHIO), Barcelona, Spain, Department of Medical Oncology, Hospital Universitari de la Vall d́Hebron, Barcelona, Spain., Hauke J; Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany., Papi L; Dipartimento di Scienze Biomediche Sperimentali e Cliniche, Università di Firenze, Firenze, Italy., Pujana MA; Catalan Institute of Oncology - IDIBELL, Barcelona, Spain., Lázaro C; Catalan Institute of Oncology - IDIBELL, Barcelona, Spain., Falanga A; Department of Immunohematology and Transfusion Medicine and., Offit K; Clinical Genetics Service, Department of Medicine and Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Vijai J; Clinical Genetics Service, Department of Medicine and Department of Cancer Biology and Genetics, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Campbell I; Cancer Genetics Laboratory and Sir Peter MacCallum Department of Oncology and Department of Pathology, University of Melbourne, Parkville, Victoria, Australia., Burwinkel B; Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology, University Hospital Heidelberg, Heidelberg, Germany, Molecular Epidemiology Group, C080, German Cancer Research Center (DKFZ), Heidelberg, Germany., Kvist A; Division of Oncology, Department of Clinical Sciences., Ehrencrona H; Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services and Department of Clinical Genetics, Lund University, Lund, Sweden., Mazoyer S; Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard, Lyon, France., Pizzamiglio S; Unit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Verderio P; Unit of Medical Statistics, Biometry and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy., Surralles J; Genome Instability and DNA Repair Group, Department of Genetics and Microbiology, Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER), Barcelona, Spain., Rogan PK; Department of Biochemistry, Schulich School of Medicine and Dentistry, University of Western Ontario, London, Ontario, Canada., Radice P; IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2015 Sep 15; Vol. 24 (18), pp. 5345-55. Date of Electronic Publication: 2015 Jun 30.