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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>FANCM</italic> c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor</title><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Catucci, Irene" sort="Catucci, Irene" uniqKey="Catucci I" first="Irene" last="Catucci">Irene Catucci</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Caleca, Laura" sort="Caleca, Laura" uniqKey="Caleca L" first="Laura" last="Caleca">Laura Caleca</name><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Mucaki, Eliseos" sort="Mucaki, Eliseos" uniqKey="Mucaki E" first="Eliseos" last="Mucaki">Eliseos Mucaki</name><affiliation><nlm:aff id="af6"><addr-line>Department of Biochemistry</addr-line>,<institution>Schulich School of Medicine and Dentistry, University of Western Ontario</institution>,<addr-line>London, Ontario</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Bogliolo, Massimo" sort="Bogliolo, Massimo" uniqKey="Bogliolo M" first="Massimo" last="Bogliolo">Massimo Bogliolo</name><affiliation><nlm:aff id="af7"><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Marin, Maria" sort="Marin, Maria" uniqKey="Marin M" first="Maria" last="Marin">Maria Marin</name><affiliation><nlm:aff id="af7"><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Damiola, Francesca" sort="Damiola, Francesca" uniqKey="Damiola F" first="Francesca" last="Damiola">Francesca Damiola</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Bernard, Loris" sort="Bernard, Loris" uniqKey="Bernard L" first="Loris" last="Bernard">Loris Bernard</name><affiliation><nlm:aff wicri:cut=" and" id="af9"><addr-line>Department of Experimental Oncology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Pensotti, Valeria" sort="Pensotti, Valeria" uniqKey="Pensotti V" first="Valeria" last="Pensotti">Valeria Pensotti</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Dall Olio, Valentina" sort="Dall Olio, Valentina" uniqKey="Dall Olio V" first="Valentina" last="Dall'Olio">Valentina Dall'Olio</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><nlm:aff id="af12"><addr-line>Division of Gynaecology and Obstetrics</addr-line>,<institution>Technische Universität München</institution>,<addr-line>Munich</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Bartram, Claus" sort="Bartram, Claus" uniqKey="Bartram C" first="Claus" last="Bartram">Claus Bartram</name><affiliation><nlm:aff id="af13"><addr-line>Institute of Human Genetics</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="af13"><addr-line>Institute of Human Genetics</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name><affiliation><nlm:aff id="af14"><addr-line>Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology</addr-line>,<institution>University Hospital Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af15"><addr-line>Molecular Epidemiology Group, C080</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Sornin, Valerie" sort="Sornin, Valerie" uniqKey="Sornin V" first="Valérie" last="Sornin">Valérie Sornin</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Dondon, Marie Gabrielle" sort="Dondon, Marie Gabrielle" uniqKey="Dondon M" first="Marie-Gabrielle" last="Dondon">Marie-Gabrielle Dondon</name><affiliation><nlm:aff id="af16"><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Eon Marchais, Severine" sort="Eon Marchais, Severine" uniqKey="Eon Marchais S" first="Séverine" last="Eon-Marchais">Séverine Eon-Marchais</name><affiliation><nlm:aff id="af16"><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="af19"><institution>Service de Génétique Oncologique</institution>,<institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af20"><institution>INSERM, U830</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af21"><institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Andrieu, Nadine" sort="Andrieu, Nadine" uniqKey="Andrieu N" first="Nadine" last="Andrieu">Nadine Andrieu</name><affiliation><nlm:aff id="af16"><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af22"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Gillian" sort="Mitchell, Gillian" uniqKey="Mitchell G" first="Gillian" last="Mitchell">Gillian Mitchell</name><affiliation><nlm:aff id="af23"><institution>Familial Cancer Centre</institution>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation></author><author><name sortKey="James, Paul A" sort="James, Paul A" uniqKey="James P" first="Paul A." last="James">Paul A. James</name><affiliation><nlm:aff id="af23"><institution>Familial Cancer Centre</institution>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Thompson, Ella" sort="Thompson, Ella" uniqKey="Thompson E" first="Ella" last="Thompson">Ella Thompson</name><affiliation><nlm:aff wicri:cut=" and" id="af24"><institution>Cancer Genetics Laboratory</institution></nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Marchetti, Marina" sort="Marchetti, Marina" uniqKey="Marchetti M" first="Marina" last="Marchetti">Marina Marchetti</name><affiliation><nlm:aff wicri:cut=" and" id="af28"><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Verzeroli, Cristina" sort="Verzeroli, Cristina" uniqKey="Verzeroli C" first="Cristina" last="Verzeroli">Cristina Verzeroli</name><affiliation><nlm:aff id="af25"><institution>Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre</institution>,<addr-line>East Melbourne, Victoria</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Tartari, Carmen" sort="Tartari, Carmen" uniqKey="Tartari C" first="Carmen" last="Tartari">Carmen Tartari</name><affiliation><nlm:aff wicri:cut=" and" id="af28"><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Capone, Gabriele Lorenzo" sort="Capone, Gabriele Lorenzo" uniqKey="Capone G" first="Gabriele Lorenzo" last="Capone">Gabriele Lorenzo Capone</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Putignano, Anna Laura" sort="Putignano, Anna Laura" uniqKey="Putignano A" first="Anna Laura" last="Putignano">Anna Laura Putignano</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af32"><addr-line>Institute of Medical Genetics</addr-line>,<institution>‘A. Gemelli’ School of Medicine, Catholic University</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Medici, Veronica" sort="Medici, Veronica" uniqKey="Medici V" first="Veronica" last="Medici">Veronica Medici</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Marchi, Isabella" sort="Marchi, Isabella" uniqKey="Marchi I" first="Isabella" last="Marchi">Isabella Marchi</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Federico, Massimo" sort="Federico, Massimo" uniqKey="Federico M" first="Massimo" last="Federico">Massimo Federico</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tognazzo, Silvia" sort="Tognazzo, Silvia" uniqKey="Tognazzo S" first="Silvia" last="Tognazzo">Silvia Tognazzo</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Matricardi, Laura" sort="Matricardi, Laura" uniqKey="Matricardi L" first="Laura" last="Matricardi">Laura Matricardi</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Cancer Bio-Immunotherapy Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Puppa, Lara Della" sort="Puppa, Lara Della" uniqKey="Puppa L" first="Lara Della" last="Puppa">Lara Della Puppa</name><affiliation><nlm:aff id="af36"><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Cini, Giulia" sort="Cini, Giulia" uniqKey="Cini G" first="Giulia" last="Cini">Giulia Cini</name><affiliation><nlm:aff id="af36"><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Gismondi, Viviana" sort="Gismondi, Viviana" uniqKey="Gismondi V" first="Viviana" last="Gismondi">Viviana Gismondi</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Viassolo, Valeria" sort="Viassolo, Valeria" uniqKey="Viassolo V" first="Valeria" last="Viassolo">Valeria Viassolo</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Perfumo, Chiara" sort="Perfumo, Chiara" uniqKey="Perfumo C" first="Chiara" last="Perfumo">Chiara Perfumo</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Mencarelli, Maria Antonietta" sort="Mencarelli, Maria Antonietta" uniqKey="Mencarelli M" first="Maria Antonietta" last="Mencarelli">Maria Antonietta Mencarelli</name><affiliation><nlm:aff id="af38"><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af39"><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Baldassarri, Margherita" sort="Baldassarri, Margherita" uniqKey="Baldassarri M" first="Margherita" last="Baldassarri">Margherita Baldassarri</name><affiliation><nlm:aff id="af38"><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af39"><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="af3"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Roversi, Gaia" sort="Roversi, Gaia" uniqKey="Roversi G" first="Gaia" last="Roversi">Gaia Roversi</name><affiliation><nlm:aff id="af3"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Silvestri, Valentina" sort="Silvestri, Valentina" uniqKey="Silvestri V" first="Valentina" last="Silvestri">Valentina Silvestri</name><affiliation><nlm:aff id="af40"><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Rizzolo, Piera" sort="Rizzolo, Piera" uniqKey="Rizzolo P" first="Piera" last="Rizzolo">Piera Rizzolo</name><affiliation><nlm:aff id="af40"><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Spina, Francesca" sort="Spina, Francesca" uniqKey="Spina F" first="Francesca" last="Spina">Francesca Spina</name><affiliation><nlm:aff id="af41"><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Vivanet, Caterina" sort="Vivanet, Caterina" uniqKey="Vivanet C" first="Caterina" last="Vivanet">Caterina Vivanet</name><affiliation><nlm:aff id="af41"><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="af42"><addr-line>Unit of Pathology</addr-line>,<institution>Ospedale di Circolo</institution>,<addr-line>Varese</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Caligo, Maria Adelaide" sort="Caligo, Maria Adelaide" uniqKey="Caligo M" first="Maria Adelaide" last="Caligo">Maria Adelaide Caligo</name><affiliation><nlm:aff id="af43"><addr-line>Section of Genetic Oncology</addr-line>,<institution>University Hospital and University of Pisa</institution>,<addr-line>Pisa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Gambino, Gaetana" sort="Gambino, Gaetana" uniqKey="Gambino G" first="Gaetana" last="Gambino">Gaetana Gambino</name><affiliation><nlm:aff id="af43"><addr-line>Section of Genetic Oncology</addr-line>,<institution>University Hospital and University of Pisa</institution>,<addr-line>Pisa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tommasi, Stefania" sort="Tommasi, Stefania" uniqKey="Tommasi S" first="Stefania" last="Tommasi">Stefania Tommasi</name><affiliation><nlm:aff id="af44"><institution>IRCCS Istituto Tumori ‘Giovanni Paolo II’, Molecular Genetics Laboratory</institution>,<addr-line>Bari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Pilato, Brunella" sort="Pilato, Brunella" uniqKey="Pilato B" first="Brunella" last="Pilato">Brunella Pilato</name><affiliation><nlm:aff id="af44"><institution>IRCCS Istituto Tumori ‘Giovanni Paolo II’, Molecular Genetics Laboratory</institution>,<addr-line>Bari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tondini, Carlo" sort="Tondini, Carlo" uniqKey="Tondini C" first="Carlo" last="Tondini">Carlo Tondini</name><affiliation><nlm:aff id="af29"><addr-line>Unit of Medical Oncology</addr-line>,<institution>Azienda Ospedaliera Papa Giovanni XXIII</institution>,<addr-line>Bergamo</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Corna, Chiara" sort="Corna, Chiara" uniqKey="Corna C" first="Chiara" last="Corna">Chiara Corna</name><affiliation><nlm:aff id="af29"><addr-line>Unit of Medical Oncology</addr-line>,<institution>Azienda Ospedaliera Papa Giovanni XXIII</institution>,<addr-line>Bergamo</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="af45"><addr-line>Human Cancer Genetics Programme</addr-line>,<institution>Spanish National Cancer Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af46"><institution>Spanish Genotyping Centre (CEGEN)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="af45"><addr-line>Human Cancer Genetics Programme</addr-line>,<institution>Spanish National Cancer Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af46"><institution>Spanish Genotyping Centre (CEGEN)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Balestrino, Luisa" sort="Balestrino, Luisa" uniqKey="Balestrino L" first="Luisa" last="Balestrino">Luisa Balestrino</name><affiliation><nlm:aff id="af41"><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Ottini, Laura" sort="Ottini, Laura" uniqKey="Ottini L" first="Laura" last="Ottini">Laura Ottini</name><affiliation><nlm:aff id="af40"><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="af3"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Pierotti, Marco A" sort="Pierotti, Marco A" uniqKey="Pierotti M" first="Marco A." last="Pierotti">Marco A. Pierotti</name><affiliation><nlm:aff wicri:cut=" and" id="af4"><institution>Scientific Directorate</institution></nlm:aff></affiliation></author><author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name><affiliation><nlm:aff id="af38"><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af39"><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="af47"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="af47"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff id="af48"><addr-line>Department of Human Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af49"><addr-line>Department of Pathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hilbers, Florentine S" sort="Hilbers, Florentine S" uniqKey="Hilbers F" first="Florentine S." last="Hilbers">Florentine S. Hilbers</name><affiliation><nlm:aff id="af48"><addr-line>Department of Human Genetics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name><affiliation><nlm:aff id="af50"><addr-line>Department of Clinical Genetics</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Viel, Alessandra" sort="Viel, Alessandra" uniqKey="Viel A" first="Alessandra" last="Viel">Alessandra Viel</name><affiliation><nlm:aff id="af36"><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Cortesi, Laura" sort="Cortesi, Laura" uniqKey="Cortesi L" first="Laura" last="Cortesi">Laura Cortesi</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Diez">Orland Diez</name><affiliation><nlm:aff id="af51"><addr-line>Oncogenetics Group</addr-line>,<institution>Hospital Universitari de la Vall d'Hebron</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af52"><institution>Vall d́Hebron Institute of Oncology (VHIO)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af53"><institution>Universitat Autònoma de Barcelona</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Balma A, Judith" sort="Balma A, Judith" uniqKey="Balma A J" first="Judith" last="Balma A">Judith Balma A</name><affiliation><nlm:aff id="af52"><institution>Vall d́Hebron Institute of Oncology (VHIO)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af54"><addr-line>Department of Medical Oncology</addr-line>,<institution>Hospital Universitari de la Vall d́Hebron</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name><affiliation><nlm:aff id="af55"><addr-line>Center for Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="af55"><addr-line>Center for Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Pujana, Miguel Angel" sort="Pujana, Miguel Angel" uniqKey="Pujana M" first="Miguel Angel" last="Pujana">Miguel Angel Pujana</name><affiliation><nlm:aff id="af56"><institution>Catalan Institute of Oncology – IDIBELL</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lázaro">Conxi Lázaro</name><affiliation><nlm:aff id="af56"><institution>Catalan Institute of Oncology – IDIBELL</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Falanga, Anna" sort="Falanga, Anna" uniqKey="Falanga A" first="Anna" last="Falanga">Anna Falanga</name><affiliation><nlm:aff wicri:cut=" and" id="af28"><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="af57"><addr-line>Clinical Genetics Service</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af58"><addr-line>Department of Medicine</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af59"><addr-line>Department of Cancer Biology and Genetics</addr-line>,<institution>Memorial Sloan Kettering Cancer Center</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="af57"><addr-line>Clinical Genetics Service</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af58"><addr-line>Department of Medicine</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af59"><addr-line>Department of Cancer Biology and Genetics</addr-line>,<institution>Memorial Sloan Kettering Cancer Center</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Campbell, Ian" sort="Campbell, Ian" uniqKey="Campbell I" first="Ian" last="Campbell">Ian Campbell</name><affiliation><nlm:aff wicri:cut=" and" id="af24"><institution>Cancer Genetics Laboratory</institution></nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>Department of Pathology</addr-line>,<institution>University of Melbourne</institution>,<addr-line>Parkville, Victoria</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name><affiliation><nlm:aff id="af14"><addr-line>Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology</addr-line>,<institution>University Hospital Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af15"><addr-line>Molecular Epidemiology Group, C080</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Kvist, Anders" sort="Kvist, Anders" uniqKey="Kvist A" first="Anders" last="Kvist">Anders Kvist</name><affiliation><nlm:aff id="af60"><addr-line>Division of Oncology, Department of Clinical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff wicri:cut=" and" id="af61"><addr-line>Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af62"><addr-line>Department of Clinical Genetics, Lund University, Lund</addr-line>,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Pizzamiglio, Sara" sort="Pizzamiglio, Sara" uniqKey="Pizzamiglio S" first="Sara" last="Pizzamiglio">Sara Pizzamiglio</name><affiliation><nlm:aff id="af5"><addr-line>Unit of Medical Statistics, Biometry and Bioinformatics</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Verderio, Paolo" sort="Verderio, Paolo" uniqKey="Verderio P" first="Paolo" last="Verderio">Paolo Verderio</name><affiliation><nlm:aff id="af5"><addr-line>Unit of Medical Statistics, Biometry and Bioinformatics</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Surralles, Jordi" sort="Surralles, Jordi" uniqKey="Surralles J" first="Jordi" last="Surralles">Jordi Surralles</name><affiliation><nlm:aff id="af7"><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Rogan, Peter K" sort="Rogan, Peter K" uniqKey="Rogan P" first="Peter K." last="Rogan">Peter K. Rogan</name><affiliation><nlm:aff id="af6"><addr-line>Department of Biochemistry</addr-line>,<institution>Schulich School of Medicine and Dentistry, University of Western Ontario</institution>,<addr-line>London, Ontario</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26130695</idno><idno type="pmc">4550823</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823</idno><idno type="RBID">PMC:4550823</idno><idno type="doi">10.1093/hmg/ddv251</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000190</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000190</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>FANCM</italic> c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor</title><author><name sortKey="Peterlongo, Paolo" sort="Peterlongo, Paolo" uniqKey="Peterlongo P" first="Paolo" last="Peterlongo">Paolo Peterlongo</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Catucci, Irene" sort="Catucci, Irene" uniqKey="Catucci I" first="Irene" last="Catucci">Irene Catucci</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Colombo, Mara" sort="Colombo, Mara" uniqKey="Colombo M" first="Mara" last="Colombo">Mara Colombo</name><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Caleca, Laura" sort="Caleca, Laura" uniqKey="Caleca L" first="Laura" last="Caleca">Laura Caleca</name><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Mucaki, Eliseos" sort="Mucaki, Eliseos" uniqKey="Mucaki E" first="Eliseos" last="Mucaki">Eliseos Mucaki</name><affiliation><nlm:aff id="af6"><addr-line>Department of Biochemistry</addr-line>,<institution>Schulich School of Medicine and Dentistry, University of Western Ontario</institution>,<addr-line>London, Ontario</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Bogliolo, Massimo" sort="Bogliolo, Massimo" uniqKey="Bogliolo M" first="Massimo" last="Bogliolo">Massimo Bogliolo</name><affiliation><nlm:aff id="af7"><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Marin, Maria" sort="Marin, Maria" uniqKey="Marin M" first="Maria" last="Marin">Maria Marin</name><affiliation><nlm:aff id="af7"><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Damiola, Francesca" sort="Damiola, Francesca" uniqKey="Damiola F" first="Francesca" last="Damiola">Francesca Damiola</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Bernard, Loris" sort="Bernard, Loris" uniqKey="Bernard L" first="Loris" last="Bernard">Loris Bernard</name><affiliation><nlm:aff wicri:cut=" and" id="af9"><addr-line>Department of Experimental Oncology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Pensotti, Valeria" sort="Pensotti, Valeria" uniqKey="Pensotti V" first="Valeria" last="Pensotti">Valeria Pensotti</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Volorio, Sara" sort="Volorio, Sara" uniqKey="Volorio S" first="Sara" last="Volorio">Sara Volorio</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Dall Olio, Valentina" sort="Dall Olio, Valentina" uniqKey="Dall Olio V" first="Valentina" last="Dall'Olio">Valentina Dall'Olio</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af11"><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Meindl, Alfons" sort="Meindl, Alfons" uniqKey="Meindl A" first="Alfons" last="Meindl">Alfons Meindl</name><affiliation><nlm:aff id="af12"><addr-line>Division of Gynaecology and Obstetrics</addr-line>,<institution>Technische Universität München</institution>,<addr-line>Munich</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Bartram, Claus" sort="Bartram, Claus" uniqKey="Bartram C" first="Claus" last="Bartram">Claus Bartram</name><affiliation><nlm:aff id="af13"><addr-line>Institute of Human Genetics</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Sutter, Christian" sort="Sutter, Christian" uniqKey="Sutter C" first="Christian" last="Sutter">Christian Sutter</name><affiliation><nlm:aff id="af13"><addr-line>Institute of Human Genetics</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Surowy, Harald" sort="Surowy, Harald" uniqKey="Surowy H" first="Harald" last="Surowy">Harald Surowy</name><affiliation><nlm:aff id="af14"><addr-line>Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology</addr-line>,<institution>University Hospital Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af15"><addr-line>Molecular Epidemiology Group, C080</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Sornin, Valerie" sort="Sornin, Valerie" uniqKey="Sornin V" first="Valérie" last="Sornin">Valérie Sornin</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Dondon, Marie Gabrielle" sort="Dondon, Marie Gabrielle" uniqKey="Dondon M" first="Marie-Gabrielle" last="Dondon">Marie-Gabrielle Dondon</name><affiliation><nlm:aff id="af16"><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Eon Marchais, Severine" sort="Eon Marchais, Severine" uniqKey="Eon Marchais S" first="Séverine" last="Eon-Marchais">Séverine Eon-Marchais</name><affiliation><nlm:aff id="af16"><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Stoppa Lyonnet, Dominique" sort="Stoppa Lyonnet, Dominique" uniqKey="Stoppa Lyonnet D" first="Dominique" last="Stoppa-Lyonnet">Dominique Stoppa-Lyonnet</name><affiliation><nlm:aff id="af19"><institution>Service de Génétique Oncologique</institution>,<institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af20"><institution>INSERM, U830</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af21"><institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Andrieu, Nadine" sort="Andrieu, Nadine" uniqKey="Andrieu N" first="Nadine" last="Andrieu">Nadine Andrieu</name><affiliation><nlm:aff id="af16"><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af17"><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af18"><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Sinilnikova, Olga M" sort="Sinilnikova, Olga M" uniqKey="Sinilnikova O" first="Olga M." last="Sinilnikova">Olga M. Sinilnikova</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af22"><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Gillian" sort="Mitchell, Gillian" uniqKey="Mitchell G" first="Gillian" last="Mitchell">Gillian Mitchell</name><affiliation><nlm:aff id="af23"><institution>Familial Cancer Centre</institution>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation></author><author><name sortKey="James, Paul A" sort="James, Paul A" uniqKey="James P" first="Paul A." last="James">Paul A. James</name><affiliation><nlm:aff id="af23"><institution>Familial Cancer Centre</institution>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Thompson, Ella" sort="Thompson, Ella" uniqKey="Thompson E" first="Ella" last="Thompson">Ella Thompson</name><affiliation><nlm:aff wicri:cut=" and" id="af24"><institution>Cancer Genetics Laboratory</institution></nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Marchetti, Marina" sort="Marchetti, Marina" uniqKey="Marchetti M" first="Marina" last="Marchetti">Marina Marchetti</name><affiliation><nlm:aff wicri:cut=" and" id="af28"><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Verzeroli, Cristina" sort="Verzeroli, Cristina" uniqKey="Verzeroli C" first="Cristina" last="Verzeroli">Cristina Verzeroli</name><affiliation><nlm:aff id="af25"><institution>Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre</institution>,<addr-line>East Melbourne, Victoria</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Tartari, Carmen" sort="Tartari, Carmen" uniqKey="Tartari C" first="Carmen" last="Tartari">Carmen Tartari</name><affiliation><nlm:aff wicri:cut=" and" id="af28"><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Capone, Gabriele Lorenzo" sort="Capone, Gabriele Lorenzo" uniqKey="Capone G" first="Gabriele Lorenzo" last="Capone">Gabriele Lorenzo Capone</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Putignano, Anna Laura" sort="Putignano, Anna Laura" uniqKey="Putignano A" first="Anna Laura" last="Putignano">Anna Laura Putignano</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Genuardi, Maurizio" sort="Genuardi, Maurizio" uniqKey="Genuardi M" first="Maurizio" last="Genuardi">Maurizio Genuardi</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af31"><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af32"><addr-line>Institute of Medical Genetics</addr-line>,<institution>‘A. Gemelli’ School of Medicine, Catholic University</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Medici, Veronica" sort="Medici, Veronica" uniqKey="Medici V" first="Veronica" last="Medici">Veronica Medici</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Marchi, Isabella" sort="Marchi, Isabella" uniqKey="Marchi I" first="Isabella" last="Marchi">Isabella Marchi</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Federico, Massimo" sort="Federico, Massimo" uniqKey="Federico M" first="Massimo" last="Federico">Massimo Federico</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tognazzo, Silvia" sort="Tognazzo, Silvia" uniqKey="Tognazzo S" first="Silvia" last="Tognazzo">Silvia Tognazzo</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Matricardi, Laura" sort="Matricardi, Laura" uniqKey="Matricardi L" first="Laura" last="Matricardi">Laura Matricardi</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Agata, Simona" sort="Agata, Simona" uniqKey="Agata S" first="Simona" last="Agata">Simona Agata</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Dolcetti, Riccardo" sort="Dolcetti, Riccardo" uniqKey="Dolcetti R" first="Riccardo" last="Dolcetti">Riccardo Dolcetti</name><affiliation><nlm:aff wicri:cut=" and" id="af35"><addr-line>Cancer Bio-Immunotherapy Unit</addr-line></nlm:aff></affiliation></author><author><name sortKey="Puppa, Lara Della" sort="Puppa, Lara Della" uniqKey="Puppa L" first="Lara Della" last="Puppa">Lara Della Puppa</name><affiliation><nlm:aff id="af36"><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Cini, Giulia" sort="Cini, Giulia" uniqKey="Cini G" first="Giulia" last="Cini">Giulia Cini</name><affiliation><nlm:aff id="af36"><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Gismondi, Viviana" sort="Gismondi, Viviana" uniqKey="Gismondi V" first="Viviana" last="Gismondi">Viviana Gismondi</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Viassolo, Valeria" sort="Viassolo, Valeria" uniqKey="Viassolo V" first="Valeria" last="Viassolo">Valeria Viassolo</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Perfumo, Chiara" sort="Perfumo, Chiara" uniqKey="Perfumo C" first="Chiara" last="Perfumo">Chiara Perfumo</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Mencarelli, Maria Antonietta" sort="Mencarelli, Maria Antonietta" uniqKey="Mencarelli M" first="Maria Antonietta" last="Mencarelli">Maria Antonietta Mencarelli</name><affiliation><nlm:aff id="af38"><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af39"><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Baldassarri, Margherita" sort="Baldassarri, Margherita" uniqKey="Baldassarri M" first="Margherita" last="Baldassarri">Margherita Baldassarri</name><affiliation><nlm:aff id="af38"><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af39"><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Peissel, Bernard" sort="Peissel, Bernard" uniqKey="Peissel B" first="Bernard" last="Peissel">Bernard Peissel</name><affiliation><nlm:aff id="af3"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Roversi, Gaia" sort="Roversi, Gaia" uniqKey="Roversi G" first="Gaia" last="Roversi">Gaia Roversi</name><affiliation><nlm:aff id="af3"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Silvestri, Valentina" sort="Silvestri, Valentina" uniqKey="Silvestri V" first="Valentina" last="Silvestri">Valentina Silvestri</name><affiliation><nlm:aff id="af40"><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Rizzolo, Piera" sort="Rizzolo, Piera" uniqKey="Rizzolo P" first="Piera" last="Rizzolo">Piera Rizzolo</name><affiliation><nlm:aff id="af40"><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Spina, Francesca" sort="Spina, Francesca" uniqKey="Spina F" first="Francesca" last="Spina">Francesca Spina</name><affiliation><nlm:aff id="af41"><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Vivanet, Caterina" sort="Vivanet, Caterina" uniqKey="Vivanet C" first="Caterina" last="Vivanet">Caterina Vivanet</name><affiliation><nlm:aff id="af41"><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tibiletti, Maria Grazia" sort="Tibiletti, Maria Grazia" uniqKey="Tibiletti M" first="Maria Grazia" last="Tibiletti">Maria Grazia Tibiletti</name><affiliation><nlm:aff id="af42"><addr-line>Unit of Pathology</addr-line>,<institution>Ospedale di Circolo</institution>,<addr-line>Varese</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Caligo, Maria Adelaide" sort="Caligo, Maria Adelaide" uniqKey="Caligo M" first="Maria Adelaide" last="Caligo">Maria Adelaide Caligo</name><affiliation><nlm:aff id="af43"><addr-line>Section of Genetic Oncology</addr-line>,<institution>University Hospital and University of Pisa</institution>,<addr-line>Pisa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Gambino, Gaetana" sort="Gambino, Gaetana" uniqKey="Gambino G" first="Gaetana" last="Gambino">Gaetana Gambino</name><affiliation><nlm:aff id="af43"><addr-line>Section of Genetic Oncology</addr-line>,<institution>University Hospital and University of Pisa</institution>,<addr-line>Pisa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tommasi, Stefania" sort="Tommasi, Stefania" uniqKey="Tommasi S" first="Stefania" last="Tommasi">Stefania Tommasi</name><affiliation><nlm:aff id="af44"><institution>IRCCS Istituto Tumori ‘Giovanni Paolo II’, Molecular Genetics Laboratory</institution>,<addr-line>Bari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Pilato, Brunella" sort="Pilato, Brunella" uniqKey="Pilato B" first="Brunella" last="Pilato">Brunella Pilato</name><affiliation><nlm:aff id="af44"><institution>IRCCS Istituto Tumori ‘Giovanni Paolo II’, Molecular Genetics Laboratory</institution>,<addr-line>Bari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Tondini, Carlo" sort="Tondini, Carlo" uniqKey="Tondini C" first="Carlo" last="Tondini">Carlo Tondini</name><affiliation><nlm:aff id="af29"><addr-line>Unit of Medical Oncology</addr-line>,<institution>Azienda Ospedaliera Papa Giovanni XXIII</institution>,<addr-line>Bergamo</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Corna, Chiara" sort="Corna, Chiara" uniqKey="Corna C" first="Chiara" last="Corna">Chiara Corna</name><affiliation><nlm:aff id="af29"><addr-line>Unit of Medical Oncology</addr-line>,<institution>Azienda Ospedaliera Papa Giovanni XXIII</institution>,<addr-line>Bergamo</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Bonanni, Bernardo" sort="Bonanni, Bernardo" uniqKey="Bonanni B" first="Bernardo" last="Bonanni">Bernardo Bonanni</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Barile, Monica" sort="Barile, Monica" uniqKey="Barile M" first="Monica" last="Barile">Monica Barile</name><affiliation><nlm:aff id="af10"><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Osorio, Ana" sort="Osorio, Ana" uniqKey="Osorio A" first="Ana" last="Osorio">Ana Osorio</name><affiliation><nlm:aff id="af45"><addr-line>Human Cancer Genetics Programme</addr-line>,<institution>Spanish National Cancer Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af46"><institution>Spanish Genotyping Centre (CEGEN)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Benitez, Javier" sort="Benitez, Javier" uniqKey="Benitez J" first="Javier" last="Benitez">Javier Benitez</name><affiliation><nlm:aff id="af45"><addr-line>Human Cancer Genetics Programme</addr-line>,<institution>Spanish National Cancer Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af46"><institution>Spanish Genotyping Centre (CEGEN)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Balestrino, Luisa" sort="Balestrino, Luisa" uniqKey="Balestrino L" first="Luisa" last="Balestrino">Luisa Balestrino</name><affiliation><nlm:aff id="af41"><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Ottini, Laura" sort="Ottini, Laura" uniqKey="Ottini L" first="Laura" last="Ottini">Laura Ottini</name><affiliation><nlm:aff id="af40"><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Manoukian, Siranoush" sort="Manoukian, Siranoush" uniqKey="Manoukian S" first="Siranoush" last="Manoukian">Siranoush Manoukian</name><affiliation><nlm:aff id="af3"><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Pierotti, Marco A" sort="Pierotti, Marco A" uniqKey="Pierotti M" first="Marco A." last="Pierotti">Marco A. Pierotti</name><affiliation><nlm:aff wicri:cut=" and" id="af4"><institution>Scientific Directorate</institution></nlm:aff></affiliation></author><author><name sortKey="Renieri, Alessandra" sort="Renieri, Alessandra" uniqKey="Renieri A" first="Alessandra" last="Renieri">Alessandra Renieri</name><affiliation><nlm:aff id="af38"><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af39"><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Varesco, Liliana" sort="Varesco, Liliana" uniqKey="Varesco L" first="Liliana" last="Varesco">Liliana Varesco</name><affiliation><nlm:aff id="af37"><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Couch, Fergus J" sort="Couch, Fergus J" uniqKey="Couch F" first="Fergus J." last="Couch">Fergus J. Couch</name><affiliation><nlm:aff id="af47"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Wang, Xianshu" sort="Wang, Xianshu" uniqKey="Wang X" first="Xianshu" last="Wang">Xianshu Wang</name><affiliation><nlm:aff id="af47"><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Devilee, Peter" sort="Devilee, Peter" uniqKey="Devilee P" first="Peter" last="Devilee">Peter Devilee</name><affiliation><nlm:aff id="af48"><addr-line>Department of Human Genetics</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af49"><addr-line>Department of Pathology</addr-line></nlm:aff></affiliation></author><author><name sortKey="Hilbers, Florentine S" sort="Hilbers, Florentine S" uniqKey="Hilbers F" first="Florentine S." last="Hilbers">Florentine S. Hilbers</name><affiliation><nlm:aff id="af48"><addr-line>Department of Human Genetics</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Van Asperen, Christi J" sort="Van Asperen, Christi J" uniqKey="Van Asperen C" first="Christi J." last="Van Asperen">Christi J. Van Asperen</name><affiliation><nlm:aff id="af50"><addr-line>Department of Clinical Genetics</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country>,</nlm:aff></affiliation></author><author><name sortKey="Viel, Alessandra" sort="Viel, Alessandra" uniqKey="Viel A" first="Alessandra" last="Viel">Alessandra Viel</name><affiliation><nlm:aff id="af36"><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Montagna, Marco" sort="Montagna, Marco" uniqKey="Montagna M" first="Marco" last="Montagna">Marco Montagna</name><affiliation><nlm:aff id="af34"><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Cortesi, Laura" sort="Cortesi, Laura" uniqKey="Cortesi L" first="Laura" last="Cortesi">Laura Cortesi</name><affiliation><nlm:aff id="af33"><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Diez, Orland" sort="Diez, Orland" uniqKey="Diez O" first="Orland" last="Diez">Orland Diez</name><affiliation><nlm:aff id="af51"><addr-line>Oncogenetics Group</addr-line>,<institution>Hospital Universitari de la Vall d'Hebron</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af52"><institution>Vall d́Hebron Institute of Oncology (VHIO)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af53"><institution>Universitat Autònoma de Barcelona</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Balma A, Judith" sort="Balma A, Judith" uniqKey="Balma A J" first="Judith" last="Balma A">Judith Balma A</name><affiliation><nlm:aff id="af52"><institution>Vall d́Hebron Institute of Oncology (VHIO)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af54"><addr-line>Department of Medical Oncology</addr-line>,<institution>Hospital Universitari de la Vall d́Hebron</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Hauke, Jan" sort="Hauke, Jan" uniqKey="Hauke J" first="Jan" last="Hauke">Jan Hauke</name><affiliation><nlm:aff id="af55"><addr-line>Center for Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Schmutzler, Rita K" sort="Schmutzler, Rita K" uniqKey="Schmutzler R" first="Rita K." last="Schmutzler">Rita K. Schmutzler</name><affiliation><nlm:aff id="af55"><addr-line>Center for Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Papi, Laura" sort="Papi, Laura" uniqKey="Papi L" first="Laura" last="Papi">Laura Papi</name><affiliation><nlm:aff id="af30"><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Pujana, Miguel Angel" sort="Pujana, Miguel Angel" uniqKey="Pujana M" first="Miguel Angel" last="Pujana">Miguel Angel Pujana</name><affiliation><nlm:aff id="af56"><institution>Catalan Institute of Oncology – IDIBELL</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Lazaro, Conxi" sort="Lazaro, Conxi" uniqKey="Lazaro C" first="Conxi" last="Lázaro">Conxi Lázaro</name><affiliation><nlm:aff id="af56"><institution>Catalan Institute of Oncology – IDIBELL</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Falanga, Anna" sort="Falanga, Anna" uniqKey="Falanga A" first="Anna" last="Falanga">Anna Falanga</name><affiliation><nlm:aff wicri:cut=" and" id="af28"><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line></nlm:aff></affiliation></author><author><name sortKey="Offit, Kenneth" sort="Offit, Kenneth" uniqKey="Offit K" first="Kenneth" last="Offit">Kenneth Offit</name><affiliation><nlm:aff id="af57"><addr-line>Clinical Genetics Service</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af58"><addr-line>Department of Medicine</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af59"><addr-line>Department of Cancer Biology and Genetics</addr-line>,<institution>Memorial Sloan Kettering Cancer Center</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Vijai, Joseph" sort="Vijai, Joseph" uniqKey="Vijai J" first="Joseph" last="Vijai">Joseph Vijai</name><affiliation><nlm:aff id="af57"><addr-line>Clinical Genetics Service</addr-line>,</nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af58"><addr-line>Department of Medicine</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af59"><addr-line>Department of Cancer Biology and Genetics</addr-line>,<institution>Memorial Sloan Kettering Cancer Center</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</nlm:aff></affiliation></author><author><name sortKey="Campbell, Ian" sort="Campbell, Ian" uniqKey="Campbell I" first="Ian" last="Campbell">Ian Campbell</name><affiliation><nlm:aff wicri:cut=" and" id="af24"><institution>Cancer Genetics Laboratory</institution></nlm:aff></affiliation><affiliation><nlm:aff wicri:cut=" and" id="af26"><addr-line>Sir Peter MacCallum Department of Oncology</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af27"><addr-line>Department of Pathology</addr-line>,<institution>University of Melbourne</institution>,<addr-line>Parkville, Victoria</addr-line>,<country>Australia</country>,</nlm:aff></affiliation></author><author><name sortKey="Burwinkel, Barbara" sort="Burwinkel, Barbara" uniqKey="Burwinkel B" first="Barbara" last="Burwinkel">Barbara Burwinkel</name><affiliation><nlm:aff id="af14"><addr-line>Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology</addr-line>,<institution>University Hospital Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af15"><addr-line>Molecular Epidemiology Group, C080</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</nlm:aff></affiliation></author><author><name sortKey="Kvist, Anders" sort="Kvist, Anders" uniqKey="Kvist A" first="Anders" last="Kvist">Anders Kvist</name><affiliation><nlm:aff id="af60"><addr-line>Division of Oncology, Department of Clinical Sciences</addr-line>,</nlm:aff></affiliation></author><author><name sortKey="Ehrencrona, Hans" sort="Ehrencrona, Hans" uniqKey="Ehrencrona H" first="Hans" last="Ehrencrona">Hans Ehrencrona</name><affiliation><nlm:aff wicri:cut=" and" id="af61"><addr-line>Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="af62"><addr-line>Department of Clinical Genetics, Lund University, Lund</addr-line>,<country>Sweden</country></nlm:aff></affiliation></author><author><name sortKey="Mazoyer, Sylvie" sort="Mazoyer, Sylvie" uniqKey="Mazoyer S" first="Sylvie" last="Mazoyer">Sylvie Mazoyer</name><affiliation><nlm:aff id="af8"><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</nlm:aff></affiliation></author><author><name sortKey="Pizzamiglio, Sara" sort="Pizzamiglio, Sara" uniqKey="Pizzamiglio S" first="Sara" last="Pizzamiglio">Sara Pizzamiglio</name><affiliation><nlm:aff id="af5"><addr-line>Unit of Medical Statistics, Biometry and Bioinformatics</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Verderio, Paolo" sort="Verderio, Paolo" uniqKey="Verderio P" first="Paolo" last="Verderio">Paolo Verderio</name><affiliation><nlm:aff id="af5"><addr-line>Unit of Medical Statistics, Biometry and Bioinformatics</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation></author><author><name sortKey="Surralles, Jordi" sort="Surralles, Jordi" uniqKey="Surralles J" first="Jordi" last="Surralles">Jordi Surralles</name><affiliation><nlm:aff id="af7"><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</nlm:aff></affiliation></author><author><name sortKey="Rogan, Peter K" sort="Rogan, Peter K" uniqKey="Rogan P" first="Peter K." last="Rogan">Peter K. Rogan</name><affiliation><nlm:aff id="af6"><addr-line>Department of Biochemistry</addr-line>,<institution>Schulich School of Medicine and Dentistry, University of Western Ontario</institution>,<addr-line>London, Ontario</addr-line>,<country>Canada</country>,</nlm:aff></affiliation></author><author><name sortKey="Radice, Paolo" sort="Radice, Paolo" uniqKey="Radice P" first="Paolo" last="Radice">Paolo Radice</name><affiliation><nlm:aff id="af1"><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</nlm:aff></affiliation><affiliation><nlm:aff id="af2"><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</nlm:aff></affiliation></author></analytic><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of <italic>FANCM</italic> gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28–12.11; <italic>P</italic> = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04–12.87; <italic>P</italic> = 0.043) and OR = 3.33 (95% CI = 1.09–13.62; <italic>P</italic> = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in <italic>FANCM</italic> is a risk factor for familial breast cancer.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Hum Mol Genet</journal-id><journal-id journal-id-type="iso-abbrev">Hum. Mol. Genet</journal-id><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title-group><journal-title>Human Molecular Genetics</journal-title></journal-title-group><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">26130695</article-id><article-id pub-id-type="pmc">4550823</article-id><article-id pub-id-type="doi">10.1093/hmg/ddv251</article-id><article-id pub-id-type="publisher-id">ddv251</article-id><article-categories><subj-group subj-group-type="heading"><subject>Association Studies Articles</subject></subj-group></article-categories><title-group><article-title><italic>FANCM</italic> c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk 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rid="af18">18</xref></contrib><contrib contrib-type="author"><name><surname>Sinilnikova</surname><given-names>Olga M.</given-names></name><xref ref-type="aff" rid="af8">8</xref><xref ref-type="aff" rid="af22">22</xref></contrib><contrib contrib-type="author"><collab>GENESIS</collab><xref ref-type="author-notes" rid="AN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Mitchell</surname><given-names>Gillian</given-names></name><xref ref-type="aff" rid="af23">23</xref><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><name><surname>James</surname><given-names>Paul A.</given-names></name><xref ref-type="aff" rid="af23">23</xref><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><name><surname>Thompson</surname><given-names>Ella</given-names></name><xref ref-type="aff" rid="af24">24</xref><xref ref-type="aff" rid="af26">26</xref></contrib><contrib contrib-type="author"><collab>kConFab</collab><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><collab>SWE-BRCA</collab><xref ref-type="author-notes" rid="AN2">‡</xref></contrib><contrib contrib-type="author"><name><surname>Marchetti</surname><given-names>Marina</given-names></name><xref ref-type="aff" rid="af28">28</xref></contrib><contrib contrib-type="author"><name><surname>Verzeroli</surname><given-names>Cristina</given-names></name><xref ref-type="aff" rid="af25">25</xref></contrib><contrib contrib-type="author"><name><surname>Tartari</surname><given-names>Carmen</given-names></name><xref ref-type="aff" rid="af28">28</xref></contrib><contrib contrib-type="author"><name><surname>Capone</surname><given-names>Gabriele Lorenzo</given-names></name><xref ref-type="aff" rid="af30">30</xref><xref ref-type="aff" rid="af31">31</xref></contrib><contrib contrib-type="author"><name><surname>Putignano</surname><given-names>Anna Laura</given-names></name><xref ref-type="aff" rid="af30">30</xref><xref ref-type="aff" rid="af31">31</xref></contrib><contrib contrib-type="author"><name><surname>Genuardi</surname><given-names>Maurizio</given-names></name><xref ref-type="aff" rid="af30">30</xref><xref ref-type="aff" rid="af31">31</xref><xref ref-type="aff" rid="af32">32</xref></contrib><contrib contrib-type="author"><name><surname>Medici</surname><given-names>Veronica</given-names></name><xref ref-type="aff" rid="af33">33</xref></contrib><contrib contrib-type="author"><name><surname>Marchi</surname><given-names>Isabella</given-names></name><xref ref-type="aff" rid="af33">33</xref></contrib><contrib contrib-type="author"><name><surname>Federico</surname><given-names>Massimo</given-names></name><xref ref-type="aff" rid="af33">33</xref></contrib><contrib contrib-type="author"><name><surname>Tognazzo</surname><given-names>Silvia</given-names></name><xref ref-type="aff" rid="af34">34</xref></contrib><contrib contrib-type="author"><name><surname>Matricardi</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="af34">34</xref></contrib><contrib contrib-type="author"><name><surname>Agata</surname><given-names>Simona</given-names></name><xref ref-type="aff" rid="af34">34</xref></contrib><contrib contrib-type="author"><name><surname>Dolcetti</surname><given-names>Riccardo</given-names></name><xref ref-type="aff" rid="af35">35</xref></contrib><contrib contrib-type="author"><name><surname>Puppa</surname><given-names>Lara Della</given-names></name><xref ref-type="aff" rid="af36">36</xref></contrib><contrib contrib-type="author"><name><surname>Cini</surname><given-names>Giulia</given-names></name><xref ref-type="aff" rid="af36">36</xref></contrib><contrib contrib-type="author"><name><surname>Gismondi</surname><given-names>Viviana</given-names></name><xref ref-type="aff" rid="af37">37</xref></contrib><contrib contrib-type="author"><name><surname>Viassolo</surname><given-names>Valeria</given-names></name><xref ref-type="aff" rid="af37">37</xref></contrib><contrib contrib-type="author"><name><surname>Perfumo</surname><given-names>Chiara</given-names></name><xref ref-type="aff" rid="af37">37</xref></contrib><contrib contrib-type="author"><name><surname>Mencarelli</surname><given-names>Maria Antonietta</given-names></name><xref ref-type="aff" rid="af38">38</xref><xref ref-type="aff" rid="af39">39</xref></contrib><contrib contrib-type="author"><name><surname>Baldassarri</surname><given-names>Margherita</given-names></name><xref ref-type="aff" rid="af38">38</xref><xref ref-type="aff" rid="af39">39</xref></contrib><contrib contrib-type="author"><name><surname>Peissel</surname><given-names>Bernard</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Roversi</surname><given-names>Gaia</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Silvestri</surname><given-names>Valentina</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Rizzolo</surname><given-names>Piera</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Spina</surname><given-names>Francesca</given-names></name><xref ref-type="aff" rid="af41">41</xref></contrib><contrib contrib-type="author"><name><surname>Vivanet</surname><given-names>Caterina</given-names></name><xref ref-type="aff" rid="af41">41</xref></contrib><contrib contrib-type="author"><name><surname>Tibiletti</surname><given-names>Maria Grazia</given-names></name><xref ref-type="aff" rid="af42">42</xref></contrib><contrib contrib-type="author"><name><surname>Caligo</surname><given-names>Maria Adelaide</given-names></name><xref ref-type="aff" rid="af43">43</xref></contrib><contrib contrib-type="author"><name><surname>Gambino</surname><given-names>Gaetana</given-names></name><xref ref-type="aff" rid="af43">43</xref></contrib><contrib contrib-type="author"><name><surname>Tommasi</surname><given-names>Stefania</given-names></name><xref ref-type="aff" rid="af44">44</xref></contrib><contrib contrib-type="author"><name><surname>Pilato</surname><given-names>Brunella</given-names></name><xref ref-type="aff" rid="af44">44</xref></contrib><contrib contrib-type="author"><name><surname>Tondini</surname><given-names>Carlo</given-names></name><xref ref-type="aff" rid="af29">29</xref></contrib><contrib contrib-type="author"><name><surname>Corna</surname><given-names>Chiara</given-names></name><xref ref-type="aff" rid="af29">29</xref></contrib><contrib contrib-type="author"><name><surname>Bonanni</surname><given-names>Bernardo</given-names></name><xref ref-type="aff" rid="af10">10</xref></contrib><contrib contrib-type="author"><name><surname>Barile</surname><given-names>Monica</given-names></name><xref ref-type="aff" rid="af10">10</xref></contrib><contrib contrib-type="author"><name><surname>Osorio</surname><given-names>Ana</given-names></name><xref ref-type="aff" rid="af45">45</xref><xref ref-type="aff" rid="af46">46</xref></contrib><contrib contrib-type="author"><name><surname>Benitez</surname><given-names>Javier</given-names></name><xref ref-type="aff" rid="af45">45</xref><xref ref-type="aff" rid="af46">46</xref></contrib><contrib contrib-type="author"><name><surname>Balestrino</surname><given-names>Luisa</given-names></name><xref ref-type="aff" rid="af41">41</xref></contrib><contrib contrib-type="author"><name><surname>Ottini</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="af40">40</xref></contrib><contrib contrib-type="author"><name><surname>Manoukian</surname><given-names>Siranoush</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Pierotti</surname><given-names>Marco A.</given-names></name><xref ref-type="aff" rid="af4">4</xref></contrib><contrib contrib-type="author"><name><surname>Renieri</surname><given-names>Alessandra</given-names></name><xref ref-type="aff" rid="af38">38</xref><xref ref-type="aff" rid="af39">39</xref></contrib><contrib contrib-type="author"><name><surname>Varesco</surname><given-names>Liliana</given-names></name><xref ref-type="aff" rid="af37">37</xref></contrib><contrib contrib-type="author"><name><surname>Couch</surname><given-names>Fergus J.</given-names></name><xref ref-type="aff" rid="af47">47</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Xianshu</given-names></name><xref ref-type="aff" rid="af47">47</xref></contrib><contrib contrib-type="author"><name><surname>Devilee</surname><given-names>Peter</given-names></name><xref ref-type="aff" rid="af48">48</xref><xref ref-type="aff" rid="af49">49</xref></contrib><contrib contrib-type="author"><name><surname>Hilbers</surname><given-names>Florentine S.</given-names></name><xref ref-type="aff" rid="af48">48</xref></contrib><contrib contrib-type="author"><name><surname>van Asperen</surname><given-names>Christi J.</given-names></name><xref ref-type="aff" rid="af50">50</xref></contrib><contrib contrib-type="author"><name><surname>Viel</surname><given-names>Alessandra</given-names></name><xref ref-type="aff" rid="af36">36</xref></contrib><contrib contrib-type="author"><name><surname>Montagna</surname><given-names>Marco</given-names></name><xref ref-type="aff" rid="af34">34</xref></contrib><contrib contrib-type="author"><name><surname>Cortesi</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="af33">33</xref></contrib><contrib contrib-type="author"><name><surname>Diez</surname><given-names>Orland</given-names></name><xref ref-type="aff" rid="af51">51</xref><xref ref-type="aff" rid="af52">52</xref><xref ref-type="aff" rid="af53">53</xref></contrib><contrib contrib-type="author"><name><surname>Balmaña</surname><given-names>Judith</given-names></name><xref ref-type="aff" rid="af52">52</xref><xref ref-type="aff" rid="af54">54</xref></contrib><contrib contrib-type="author"><name><surname>Hauke</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="af55">55</xref></contrib><contrib contrib-type="author"><name><surname>Schmutzler</surname><given-names>Rita K.</given-names></name><xref ref-type="aff" rid="af55">55</xref></contrib><contrib contrib-type="author"><name><surname>Papi</surname><given-names>Laura</given-names></name><xref ref-type="aff" rid="af30">30</xref></contrib><contrib contrib-type="author"><name><surname>Pujana</surname><given-names>Miguel Angel</given-names></name><xref ref-type="aff" rid="af56">56</xref></contrib><contrib contrib-type="author"><name><surname>Lázaro</surname><given-names>Conxi</given-names></name><xref ref-type="aff" rid="af56">56</xref></contrib><contrib contrib-type="author"><name><surname>Falanga</surname><given-names>Anna</given-names></name><xref ref-type="aff" rid="af28">28</xref></contrib><contrib contrib-type="author"><name><surname>Offit</surname><given-names>Kenneth</given-names></name><xref ref-type="aff" rid="af57">57</xref><xref ref-type="aff" rid="af58">58</xref><xref ref-type="aff" rid="af59">59</xref></contrib><contrib contrib-type="author"><name><surname>Vijai</surname><given-names>Joseph</given-names></name><xref ref-type="aff" rid="af57">57</xref><xref ref-type="aff" rid="af58">58</xref><xref ref-type="aff" rid="af59">59</xref></contrib><contrib contrib-type="author"><name><surname>Campbell</surname><given-names>Ian</given-names></name><xref ref-type="aff" rid="af24">24</xref><xref ref-type="aff" rid="af26">26</xref><xref ref-type="aff" rid="af27">27</xref></contrib><contrib contrib-type="author"><name><surname>Burwinkel</surname><given-names>Barbara</given-names></name><xref ref-type="aff" rid="af14">14</xref><xref ref-type="aff" rid="af15">15</xref></contrib><contrib contrib-type="author"><name><surname>Kvist</surname><given-names>Anders</given-names></name><xref ref-type="aff" rid="af60">60</xref></contrib><contrib contrib-type="author"><name><surname>Ehrencrona</surname><given-names>Hans</given-names></name><xref ref-type="aff" rid="af61">61</xref><xref ref-type="aff" rid="af62">62</xref></contrib><contrib contrib-type="author"><name><surname>Mazoyer</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="af8">8</xref></contrib><contrib contrib-type="author"><name><surname>Pizzamiglio</surname><given-names>Sara</given-names></name><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Verderio</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="af5">5</xref></contrib><contrib contrib-type="author"><name><surname>Surralles</surname><given-names>Jordi</given-names></name><xref ref-type="aff" rid="af7">7</xref></contrib><contrib contrib-type="author"><name><surname>Rogan</surname><given-names>Peter K.</given-names></name><xref ref-type="aff" rid="af6">6</xref></contrib><contrib contrib-type="author"><name><surname>Radice</surname><given-names>Paolo</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="aff" rid="af2">2</xref></contrib><aff id="af1"><label>1</label><institution>IFOM, the FIRC Institute of Molecular Oncology</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af2"><label>2</label><addr-line>Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine</addr-line>,</aff><aff id="af3"><label>3</label><addr-line>Unit of Medical Genetics, Department of Preventive and Predictive Medicine</addr-line>,</aff><aff id="af4"><label>4</label><institution>Scientific Directorate</institution> and</aff><aff id="af5"><label>5</label><addr-line>Unit of Medical Statistics, Biometry and Bioinformatics</addr-line>,<institution>Fondazione IRCCS Istituto Nazionale dei Tumori</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af6"><label>6</label><addr-line>Department of Biochemistry</addr-line>,<institution>Schulich School of Medicine and Dentistry, University of Western Ontario</institution>,<addr-line>London, Ontario</addr-line>,<country>Canada</country>,</aff><aff id="af7"><label>7</label><addr-line>Genome Instability and DNA Repair Group, Department of Genetics and Microbiology</addr-line>,<institution>Universitat Autònoma de Barcelona and Center for Biomedical Network Research on Rare Diseases (CIBERER)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af8"><label>8</label><institution>Cancer Research Centre of Lyon, CNRS UMR5286, INSERM U1052, Université Claude Bernard Lyon 1, Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af9"><label>9</label><addr-line>Department of Experimental Oncology</addr-line> and</aff><aff id="af10"><label>10</label><addr-line>Division of Cancer Prevention and Genetics</addr-line>,<institution>Istituto Europeo di Oncologia</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af11"><label>11</label><institution>Cogentech, Cancer Genetic Test Laboratory</institution>,<addr-line>Milan</addr-line>,<country>Italy</country>,</aff><aff id="af12"><label>12</label><addr-line>Division of Gynaecology and Obstetrics</addr-line>,<institution>Technische Universität München</institution>,<addr-line>Munich</addr-line>,<country>Germany</country>,</aff><aff id="af13"><label>13</label><addr-line>Institute of Human Genetics</addr-line>,<institution>University of Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af14"><label>14</label><addr-line>Molecular Biology of Breast Cancer, Department of Obstetrics and Gynecology</addr-line>,<institution>University Hospital Heidelberg</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af15"><label>15</label><addr-line>Molecular Epidemiology Group, C080</addr-line>,<institution>German Cancer Research Center (DKFZ)</institution>,<addr-line>Heidelberg</addr-line>,<country>Germany</country>,</aff><aff id="af16"><label>16</label><institution>INSERM, U900</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af17"><label>17</label><institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af18"><label>18</label><institution>Mines ParisTech</institution>,<addr-line>Fontainebleau</addr-line>,<country>France</country>,</aff><aff id="af19"><label>19</label><institution>Service de Génétique Oncologique</institution>,<institution>Institut Curie</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af20"><label>20</label><institution>INSERM, U830</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af21"><label>21</label><institution>Université Paris-Descartes</institution>,<addr-line>Paris</addr-line>,<country>France</country>,</aff><aff id="af22"><label>22</label><institution>Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard</institution>,<addr-line>Lyon</addr-line>,<country>France</country>,</aff><aff id="af23"><label>23</label><institution>Familial Cancer Centre</institution>,</aff><aff id="af24"><label>24</label><institution>Cancer Genetics Laboratory</institution> and</aff><aff id="af25"><label>25</label><institution>Kathleen Cunningham Foundation Consortium for Research into Familial Breast Cancer (kConFab), Peter MacCallum Cancer Centre</institution>,<addr-line>East Melbourne, Victoria</addr-line>,<country>Australia</country>,</aff><aff id="af26"><label>26</label><addr-line>Sir Peter MacCallum Department of Oncology</addr-line> and</aff><aff id="af27"><label>27</label><addr-line>Department of Pathology</addr-line>,<institution>University of Melbourne</institution>,<addr-line>Parkville, Victoria</addr-line>,<country>Australia</country>,</aff><aff id="af28"><label>28</label><addr-line>Department of Immunohematology and Transfusion Medicine</addr-line> and</aff><aff id="af29"><label>29</label><addr-line>Unit of Medical Oncology</addr-line>,<institution>Azienda Ospedaliera Papa Giovanni XXIII</institution>,<addr-line>Bergamo</addr-line>,<country>Italy</country>,</aff><aff id="af30"><label>30</label><addr-line>Dipartimento di Scienze Biomediche Sperimentali e Cliniche</addr-line>,<institution>Università di Firenze</institution>,<addr-line>Firenze</addr-line>,<country>Italy</country>,</aff><aff id="af31"><label>31</label><institution>FiorGen Foundation for Pharmacogenomics</institution>,<addr-line>Sesto Fiorentino</addr-line>,<country>Italy</country>,</aff><aff id="af32"><label>32</label><addr-line>Institute of Medical Genetics</addr-line>,<institution>‘A. Gemelli’ School of Medicine, Catholic University</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</aff><aff id="af33"><label>33</label><addr-line>Dipartimento di Oncologia</addr-line>,<institution>Ematologia e Malattie dell'Apparato Respiratorio, Università di Modena e Reggio Emilia</institution>,<addr-line>Modena</addr-line>,<country>Italy</country>,</aff><aff id="af34"><label>34</label><addr-line>Immunology and Molecular Oncology Unit</addr-line>,<institution>Istituto Oncologico Veneto IOV – IRCCS</institution>,<addr-line>Padua</addr-line>,<country>Italy</country>,</aff><aff id="af35"><label>35</label><addr-line>Cancer Bio-Immunotherapy Unit</addr-line> and</aff><aff id="af36"><label>36</label><addr-line>Unit of Experimental Oncology 1</addr-line>,<institution>CRO Aviano National Cancer Institute</institution>,<addr-line>Aviano (PN)</addr-line>,<country>Italy</country>,</aff><aff id="af37"><label>37</label><addr-line>Unit of Hereditary Cancers</addr-line>,<institution>IRCCS AOU San Martino – IST</institution>,<addr-line>Genoa</addr-line>,<country>Italy</country>,</aff><aff id="af38"><label>38</label><addr-line>Medical Genetics</addr-line>,<institution>University of Siena</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</aff><aff id="af39"><label>39</label><addr-line>Genetica Medica</addr-line>,<institution>Azienda Ospedaliera Universitaria Senese</institution>,<addr-line>Siena</addr-line>,<country>Italy</country>,</aff><aff id="af40"><label>40</label><addr-line>Department of Molecular Medicine</addr-line>,<institution>Sapienza University of Rome</institution>,<addr-line>Rome</addr-line>,<country>Italy</country>,</aff><aff id="af41"><label>41</label><institution>SC Medical Genetics, ASl8 Cagliari</institution>,<addr-line>Cagliari</addr-line>,<country>Italy</country>,</aff><aff id="af42"><label>42</label><addr-line>Unit of Pathology</addr-line>,<institution>Ospedale di Circolo</institution>,<addr-line>Varese</addr-line>,<country>Italy</country>,</aff><aff id="af43"><label>43</label><addr-line>Section of Genetic Oncology</addr-line>,<institution>University Hospital and University of Pisa</institution>,<addr-line>Pisa</addr-line>,<country>Italy</country>,</aff><aff id="af44"><label>44</label><institution>IRCCS Istituto Tumori ‘Giovanni Paolo II’, Molecular Genetics Laboratory</institution>,<addr-line>Bari</addr-line>,<country>Italy</country>,</aff><aff id="af45"><label>45</label><addr-line>Human Cancer Genetics Programme</addr-line>,<institution>Spanish National Cancer Centre (CNIO)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af46"><label>46</label><institution>Spanish Genotyping Centre (CEGEN)</institution>,<addr-line>Madrid</addr-line>,<country>Spain</country>,</aff><aff id="af47"><label>47</label><addr-line>Department of Laboratory Medicine and Pathology</addr-line>,<institution>Mayo Clinic</institution>,<addr-line>Rochester, MN</addr-line>,<country>USA</country>,</aff><aff id="af48"><label>48</label><addr-line>Department of Human Genetics</addr-line>,</aff><aff id="af49"><label>49</label><addr-line>Department of Pathology</addr-line> and</aff><aff id="af50"><label>50</label><addr-line>Department of Clinical Genetics</addr-line>,<institution>Leiden University Medical Center</institution>,<addr-line>Leiden</addr-line>,<country>The Netherlands</country>,</aff><aff id="af51"><label>51</label><addr-line>Oncogenetics Group</addr-line>,<institution>Hospital Universitari de la Vall d'Hebron</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af52"><label>52</label><institution>Vall d́Hebron Institute of Oncology (VHIO)</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af53"><label>53</label><institution>Universitat Autònoma de Barcelona</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af54"><label>54</label><addr-line>Department of Medical Oncology</addr-line>,<institution>Hospital Universitari de la Vall d́Hebron</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af55"><label>55</label><addr-line>Center for Familial Breast and Ovarian Cancer</addr-line>,<institution>University Hospital of Cologne</institution>,<addr-line>Cologne</addr-line>,<country>Germany</country>,</aff><aff id="af56"><label>56</label><institution>Catalan Institute of Oncology – IDIBELL</institution>,<addr-line>Barcelona</addr-line>,<country>Spain</country>,</aff><aff id="af57"><label>57</label><addr-line>Clinical Genetics Service</addr-line>,</aff><aff id="af58"><label>58</label><addr-line>Department of Medicine</addr-line> and</aff><aff id="af59"><label>59</label><addr-line>Department of Cancer Biology and Genetics</addr-line>,<institution>Memorial Sloan Kettering Cancer Center</institution>,<addr-line>New York, NY</addr-line>,<country>USA</country>,</aff><aff id="af60"><label>60</label><addr-line>Division of Oncology, Department of Clinical Sciences</addr-line>,</aff><aff id="af61"><label>61</label><addr-line>Department of Clinical Genetics, Laboratory Medicine, Office for Medical Services</addr-line> and</aff><aff id="af62"><label>62</label><addr-line>Department of Clinical Genetics, Lund University, Lund</addr-line>,<country>Sweden</country></aff></contrib-group><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed at: IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, via Adamello 16, 20139 Milan, Italy. Tel: +<phone>39 2 57430 3812</phone>; Fax: +<fax>39 2 57430 3231</fax>; Email: <email>paolo.peterlongo@ifom.eu</email></corresp><fn id="AN1" fn-type="con"><label>†</label><p>A full list of collaborators is provided in the <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv251/-/DC1">Supplementary Material, Note</ext-link>.</p></fn><fn id="AN2" fn-type="con"><label>‡</label><p>The Swedish BRCA1 and BRCA2 study collaborators; a full list of collaborators is provided in the <ext-link ext-link-type="uri" xlink:href="http://hmg.oxfordjournals.org/lookup/suppl/doi:10.1093/hmg/ddv251/-/DC1">Supplementary Material, Note</ext-link>.</p></fn></author-notes><pub-date pub-type="ppub"><day>15</day><month>9</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>30</day><month>6</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>9</month><year>2016</year></pub-date><pmc-comment> PMC Release delay is 12 months and
0 days and was based on the
<volume>24</volume><issue>18</issue><fpage>5345</fpage><lpage>5355</lpage><history><date date-type="received"><day>1</day><month>12</month><year>2014</year></date><date date-type="rev-recd"><day>9</day><month>6</month><year>2015</year></date><date date-type="accepted"><day>25</day><month>6</month><year>2015</year></date></history><permissions><copyright-statement>© The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com</copyright-statement><copyright-year>2015</copyright-year></permissions><self-uri content-type="pdf" xlink:href="ddv251.pdf"></self-uri><abstract><p>Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of <italic>FANCM</italic> gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28–12.11; <italic>P</italic> = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04–12.87; <italic>P</italic> = 0.043) and OR = 3.33 (95% CI = 1.09–13.62; <italic>P</italic> = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in <italic>FANCM</italic> is a risk factor for familial breast cancer.</p></abstract><funding-group><award-group id="funding-1"><funding-source>Ministero della Salute, Italy</funding-source></award-group><award-group id="funding-2"><funding-source>Associazione Italiana per la Ricerca sul Cancro <named-content content-type="funder-id">http://dx.doi.org/10.13039/501100005010</named-content></funding-source><award-id>AIRC-IG 12821</award-id><award-id>IG 12780</award-id><award-id>IG 5706</award-id></award-group><award-group id="funding-3"><funding-source>Fondazione IRCCS Istituto Nazionale Tumori</funding-source></award-group><award-group id="funding-4"><funding-source>CRO Aviano National Cancer Institute</funding-source></award-group><award-group id="funding-5"><funding-source>Istituto Oncologico Veneto IOV – IRCCS</funding-source></award-group><award-group id="funding-6"><funding-source>National Institutes of Health <named-content content-type="funder-id">http://dx.doi.org/10.13039/100000002</named-content></funding-source></award-group><award-group id="funding-7"><funding-source>NIH</funding-source><award-id>CA128978</award-id><award-id>CA116167</award-id><award-id>CA176785</award-id></award-group><award-group id="funding-8"><funding-source>Breast Cancer Research Foundation <named-content content-type="funder-id">http://dx.doi.org/10.13039/100001006</named-content></funding-source></award-group><award-group id="funding-9"><funding-source>Spanish Network on Rare Diseases</funding-source></award-group><award-group id="funding-10"><funding-source>Spanish Carlos III Health Institute</funding-source><award-id>PI12/02585</award-id></award-group><award-group id="funding-11"><funding-source>Asociación Española Contra el Cáncer</funding-source></award-group><award-group id="funding-12"><funding-source>Spanish Health Research Foundation</funding-source></award-group><award-group id="funding-13"><funding-source>Ramón Areces Foundation</funding-source></award-group><award-group id="funding-14"><funding-source>Catalan Health Institute and Autonomous Government of Catalonia</funding-source><award-id>ISCIIIRETIC RD12/0036/008</award-id><award-id>PI10/01422</award-id><award-id>PI12/01528</award-id><award-id>PI13/00285</award-id><award-id>2009SGR290</award-id><award-id>2009SGR283</award-id></award-group><award-group id="funding-15"><funding-source>Swedish Cancer Society</funding-source></award-group><award-group id="funding-16"><funding-source>Berta Kamprad Foundation</funding-source></award-group><award-group id="funding-17"><funding-source>Gunnar Nilsson Foundation</funding-source></award-group><award-group id="funding-18"><funding-source>BioCARE</funding-source></award-group><award-group id="funding-19"><funding-source>Swedish Society of Medicine</funding-source></award-group><award-group id="funding-20"><funding-source>UNICANCER</funding-source></award-group><award-group id="funding-21"><funding-source>Ligue Nationale Contre le Cancer</funding-source></award-group><award-group id="funding-22"><funding-source>French National Institute of Cancer</funding-source></award-group><award-group id="funding-23"><funding-source>MINECO</funding-source><award-id>SAF2012-31881</award-id></award-group><award-group id="funding-24"><funding-source>ICREA Academia, Generalitat de Catalunya</funding-source><award-id>SGR0489-2009, SGR317-2014</award-id></award-group><award-group id="funding-25"><funding-source>Canadian Breast Cancer Foundation <named-content content-type="funder-id">http://dx.doi.org/10.13039/501100000147</named-content></funding-source></award-group><award-group id="funding-26"><funding-source>Canadian Foundation for Innovation</funding-source></award-group><award-group id="funding-27"><funding-source>Canada Research Chairs Secretariat</funding-source></award-group><award-group id="funding-28"><funding-source>Natural Sciences and Engineering Research Council of Canada <named-content content-type="funder-id">http://dx.doi.org/10.13039/501100000038</named-content></funding-source></award-group><award-group id="funding-29"><funding-source>NSERC</funding-source><award-id>371758-2009</award-id></award-group></funding-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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