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FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Peterlongo, Paolo; Catucci, Irene; Colombo, Mara; Caleca, Laura; Mucaki, Eliseos; Bogliolo, Massimo; Marin, Maria; Damiola, Francesca; Bernard, Loris; Pensotti, Valeria; Volorio, Sara; Dall'Olio, Valentina; Meindl, Alfons; Bartram, Claus; Sutter, Christian; Surowy, Harald; Sornin, Valérie; Dondon, Marie-Gabrielle; Eon-Marchais, Séverine; Stoppa-Lyonnet, Dominique; Andrieu, Nadine; Sinilnikova, Olga M; Mitchell, Gillian; James, Paul A; Thompson, Ella; Marchetti, Marina; Verzeroli, Cristina; Tartari, Carmen; Capone, Gabriele Lorenzo; Putignano, Anna Laura; Genuardi, Maurizio; Medici, Veronica; Marchi, Isabella; Federico, Massimo; Tognazzo, Silvia; Matricardi, Laura; Agata, Simona; Dolcetti, Riccardo; Della Puppa, Lara; Cini, Giulia; Gismondi, Viviana; Viassolo, Valeria; Perfumo, Chiara; Mencarelli, Maria Antonietta; Baldassarri, Margherita; Peissel, Bernard; Roversi, Gaia; Silvestri, Valentina; Rizzolo, Piera; Spina, Francesca.
Affiliation
  • 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.
Hum Mol Genet ; 24(18): 5345-55, 2015 Sep 15.
Article in En | MEDLINE | ID: mdl-26130695
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Alternative Splicing / DNA Helicases / Codon, Nonsense / DNA Repair Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Adult / Female / Humans / Middle aged Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2015 Type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Alternative Splicing / DNA Helicases / Codon, Nonsense / DNA Repair Type of study: Etiology_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Adult / Female / Humans / Middle aged Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2015 Type: Article