Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Autor: Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Li H; Cancer Control and Population Science, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Hahnen E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Feliubadaló L; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Aalfs CM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Agata S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy., Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Alducci E; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy., Alonso-Cerezo MC; Clinical Genetics, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria, Madrid, Spain., Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Auber B; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Austin R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia., Azzollini J; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Balmaña J; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain.; Department of Medical Oncology, University Hospital of Vall d'Hebron, Barcelona, Spain., Barbieri E; Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy., Bartram CR; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Blanco A; Fundación Pública galega Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain., Blümcke B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Bonache S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Bonanni B; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Borg Å; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Bortesi B; Division of Oncology, University Hospital of Parma, Parma, Italy., Brunet J; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Bruzzone C; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Bucksch K; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Cagnoli G; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Caldés T; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Caliebe A; Institute of Human Genetics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Caligo MA; SOD Genetica Molecolare, University Hospital, Pisa, Italy., Calvello M; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Capone GL; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Caputo SM; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Carnevali I; UO Anatomia Patologica, Ospedale di Circolo ASST Settelaghi, Varese, Italy., Carrasco E; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Caux-Moncoutier V; Service de Génétique, Institut Curie, Paris, France., Cavalli P; Servizio di Genetica, ASST di Cremona, Cremona, Italy., Cini G; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy., Clarke EM; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Concolino P; Fondazione Policlinico Universitario A.Gemelli, IRCCS, Rome, Italy., Cops EJ; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia., Cortesi L; Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy., Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Darder E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Dean M; Laboratory of Translational Genomics, DCEG, National Cancer Institute, Gaithersburg, Maryland., Debatin I; Institute of Human Genetics, University Hospital Ulm, Ulm, Germany., Del Valle J; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Delnatte C; Laboratoire de Genetique Moleculaire, CHU Nantes, Nantes, France., Derive N; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.; Clinical and Molecular Genetics Area, University Hospital Vall d'Hebron, Barcelona, Spain., Ditsch N; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany., Domchek SM; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania., Dutrannoy V; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany., Eccles DM; Faculty of Medicine, University of Southampton, Southampton, UK., Ehrencrona H; Department of Clinical Genetics and Pathology, Laboratory Medicine, Office for Medical Services - Region Skåne, Lund, Sweden.; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden., Enders U; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Evans DG; Genomic Medicine, Division of Evolution and Genomic Sciences, The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK., Farra C; Medical Genetics, American University of Beirut Medical Center, Beirut, Lebanon., Faust U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Felbor U; Institute of Human Genetics, University Medicine Greifswald, Greifswald, Germany., Feroce I; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Fine M; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia., Foulkes WD; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada., Galvao HCR; Oncogenetics Department, Barretos Cancer Hospital, São Paulo, Brazil., Gambino G; SOD Genetica Molecolare, University Hospital, Pisa, Italy., Gehrig A; Department of Human Genetics, University of Würzburg, Würzburg, Germany., Gensini F; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Gerdes AM; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Germani A; Department of Clinical and Molecular Medicine, Sant'Andrea University Hospital, Sapienza University, Rome, Italy., Giesecke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Gismondi V; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Gómez C; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Gómez Garcia EB; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., González S; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Grau E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Grill S; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany., Gross E; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany., Guerrieri-Gonzaga A; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Guillaud-Bataille M; Departement de Biopathologie, Gustave Roussy, Universite Paris-Saclay, Villejuif, France., Gutiérrez-Enríquez S; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Haaf T; Department of Human Genetics, University of Würzburg, Würzburg, Germany., Hackmann K; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Harris M; Familial Cancer Centre, Monash Health, Clayton, Australia., Hauke J; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Heinrich T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hellebrand H; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany., Herold KN; The City of Hope, Duarte, California., Honisch E; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany., Houdayer C; Department of Genetics, F76000 and Normandy University, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen University Hospital, Rouen, France., Hübbel V; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Iglesias S; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Izquierdo A; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.; Sir Peter MacCallum Department of Oncology, The University of Melbourne, Melbourne, Victoria, Australia., Janssen LAM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Jeschke U; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany., Kaulfuß S; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Keupp K; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Kiechle M; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany., Kölbl A; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany., Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre Francois Baclesse, Caen, France.; Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Normandie Université, UNICAEN, Caen, France., Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark., Kvist A; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Lalloo F; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK., Larsen M; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Lattimore VL; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Lautrup C; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark., Ledig S; Institute of Human Genetics, University of Münster, Münster, Germany., Leinert E; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Lewis AL; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Lim J; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Loeffler M; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., López-Fernández A; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Lucci-Cordisco E; UOC Genetica Medica, Fondazione Policlinico Universitario A.Gemelli IRCCS and Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy., Maass N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Marabelli M; Division of Cancer Prevention and Genetics, IEO, European Institute of Oncology IRCCS, Milan, Italy., Matricardi L; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy., Meindl A; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany., Michelli RD; Oncogenetics Department, Barretos Cancer Hospital, São Paulo, Brazil., Moghadasi S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Moles-Fernández A; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy., Montalban G; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain., Monteiro AN; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida., Montes E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Mori L; Department of Clinical and Experimental Science, University of Brescia c/o 2nd Internal Medicine, Hospital of Brescia, Brescia, Italy., Moserle L; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy., Müller CR; Department of Human Genetics, University of Würzburg, Würzburg, Germany., Mundhenke C; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Naldi N; Division of Oncology, University Hospital of Parma, Parma, Italy., Nathanson KL; Basser Center for BRCA, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania., Navarro M; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Nichols CB; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Niederacher D; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Nielsen HR; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark., Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, UK., Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia., Palmero EI; Molecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.; Barretos School of Health Sciences, Dr. Paulo Prata - FACISB, São Paulo, Brazil., Papi L; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Pedersen IS; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Peissel B; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Milan, Italy., Perez-Segura P; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Pfeifer K; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany., Pineda M; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Pohl-Rescigno E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Poplawski NK; Adult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia.; School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, Australia., Porfirio B; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, University of Florence, Florence, Italy., Quante AS; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany., Ramser J; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen, Universität München, Munich, Germany., Reis RM; Molecular Oncology Research Center, Barretos Cancer Hospital, São Paulo, Brazil.; Health Sciences School, University of Minho, Braga, Portugal.; ICVS/3B's-PT Government Associate Laboratory, Braga, Portugal., Revillion F; Laboratoire d'Oncogenetique Moleculaire Humaine, Centre Oscar Lambret, Lille, France., Rhiem K; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Riboli B; Servizio di Genetica, ASST di Cremona, Cremona, Italy., Ritter J; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany., Rivera D; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Rofes P; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Rump A; Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Dresden, Germany., Salinas M; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Sánchez de Abajo AM; Servicio de Análisis Clínicos y Bioquímica Clínica, Complejo Hospitalario, Universitario Insular Materno-Infantil de Gran Canaria, Las Palmas de Gran Canaría, Spain., Schmidt G; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Schoenwiese U; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Seggewiß J; Institute of Human Genetics, University of Münster, Münster, Germany., Solanes A; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Steinemann D; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Stiller M; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany., Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; Department of Tumour Biology, INSERM U830, Paris, France.; Université Paris Descartes, Paris, France., Sullivan KJ; Genetic Health Service NZ- Northern Hub, Auckland District Health Board, Auckland, New Zealand., Susman R; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia., Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Tavtigian SV; Department of Oncological Services, University of Utah School of Medicine, Salt Lake City, Utah.; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah., Teo SH; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University Malaya, Kuala Lumpur, Malaysia., Teulé A; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense C, Denmark., Tibiletti MG; UO Anatomia Patologica, Ospedale di Circolo ASST Settelaghi, Varese, Italy., Tischkowitz M; Department of Medical Genetics, University of Cambridge, Cambridge, UK., Tognazzo S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV, IRCCS, Padua, Italy., Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, Ohio., Tornero E; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Törngren T; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Torres-Esquius S; High Risk and Cancer Prevention Group, Vall d'Hebron Institute of Oncology, Barcelona, Spain., Toss A; Department of Oncology and Haematology, University of Modena and Reggio Emilia, Modena, Italy., Trainer AH; Parkville Familial Cancer Centre, Peter MacCallum Cancer Center, Melbourne, Victoria, Australia.; Department of medicine, University of Melbourne, Melbourne, Victoria, Australia., Tucker KM; Prince of Wales Clinical School, University of NSW, Sydney, New South Wales, Australia.; Hereditary Cancer Clinic, Department of Medical Oncology, Prince of Wales Hospital, Randwick, New South Wales, Australia., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Mackelenbergh MT; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Varesco L; Unit of Hereditary Cancer, IRCCS Ospedale Policlinico San Martino, Genoa, Italy., Vargas-Parra G; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Varon R; Institute of Medical and Human Genetics, Charité -Universitätsmedizin Berlin, Berlin, Germany., Vega A; Fundación Pública galega Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain., Velasco Á; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., Vesper AS; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Viel A; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Wagner SA; Department of Medicine, Hematology/Oncology, Goethe-University Frankfurt, Frankfurt, Germany., Waha A; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Walters RJ; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Weber BHF; Institute of Human Genetics, University Regensburg, Regensberg, Germany., Weichert W; Institute of Pathology, Technische Universität München, Munich, Germany., Wieland K; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Wiesmüller L; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Witzel I; Department of Gynecology, University Medical Center Hamburg, Hamburg, Germany., Wöckel A; Department of Gynecology and Obstetrics, University Hospital Würzburg, Würzburg, Germany., Woodward ER; Genomic Medicine, Division of Evolution and Genomic Sciences, The University of Manchester, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK.; Genomic Medicine, North West Genomics hub, Manchester Academic Health Science Centre, Manchester Universities Foundation Trust, St. Mary's Hospital, Manchester, UK., Zachariae S; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Zampiga V; Biosciences Laboratory, Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori (IRST) IRCCS, Meldola, Italy., Zeder-Göß C; Department of Gynecology and Obstetrics, University of Munich, Munich, Germany., Lázaro C; Hereditary Cancer Program, ONCOBELL-IDIBELL-IDIBGI-IGTP, Catalan Institute of Oncology, CIBERONC, Barcelona, Spain., De Nicolo A; Cancer Genomics Program, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

Publikováno v: Human mutation [Hum Mutat] 2019 Sep; Vol. 40 (9), pp. 1557-1578.

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Autor: Nielsen SM; The University of Chicago Center for Clinical Cancer Genetics, Chicago, IL., Eccles DM; University of Southampton, Southampton., Romero IL; The University of Chicago Center for Clinical Cancer Genetics, Chicago, IL., Al-Mulla F; Kuwait University and Genatak Center for Genomic Medicine, Safat, Kuwait., Balmaña J; Vall d'Hebron Institute of Oncology and University Hospital of Vall d'Hebron, Barcelona., Biancolella M; University of Rome Tor Vergata., Bslok R; Maastricht University Medical Center, Maastricht., Caligo MA; Santa Chiara University Hospital, Pisa., Calvello M; IEO, European Institute of Oncology IRCCS., Capone GL; University of Florence, Florence., Cavalli P; Ospedale Cremona, Azienda Socio Sanitaria Territoriale (ASST) di Cremona, Cremona., Chan TLC; Hong Kong Sanatorium and Hospital, Hong Kong, Special Administrative Region, People's Republic of China., Claes KBM; Ghent University Hospital, Ghent, Belgium., Cortesi L; University of Modena and Reggio Emilia, Modena., Couch FJ; Mayo Clinic, Rochester, MN., de la Hoya M; Hospital Clinico San Carlos and Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid., De Toffol S; Toma Advanced Biomedical Assays, Busto Arsizio., Diez O; Vall d'Hebron Institute of Oncology and University Hospital of Vall d'Hebron, Barcelona., Domchek SM; University of Pennsylvania, Philadelphia, PA., Eeles R; Institute of Cancer Research and Royal Marsden National Health Service (NHS) Foundation Trust, London., Efremidis A; Athens Medical Center., Fostira F; National Centre for Scientific Research Demokritos, Athens, Greece., Goldgar D; University of Utah School of Medicine, Salt Lake City, UT., Hadjisavvas A; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Hansen TVO; Copenhagen University Hospital, Rigshospitalet, Copenhagen., Hirasawa A; Keio University School of Medicine, Tokyo, Japan., Houdayer C; Université Paris Descartes and Unicancer Genetic Group, Paris., Kleiblova P; Charles University, Prague, Czech Republic., Krieger S; Normandy University, Cancer Center F. Baclesse, and Unicancer Genetic Group, Caen, France., Lázaro C; Catalan Institute of Oncology and CIBERONC, Barcelona., Loizidou M; Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Manoukian S; Fondazione IRCCS Istituto Nazionale dei Tumori, Milan., Mensenkamp AR; Radboud University Medical Center, Nijmegen., Moghadasi S; Leiden University Medical Centre, Leiden, the Netherlands., Monteiro AN; Moffitt Cancer Center, Tampa, FL., Mori L; University of Brescia, Brescia., Morrow A; Prince of Wales Hospital and Community Health, Randwick, New South Wales., Naldi N; University Hospital of Parma, Parma., Nielsen HR; Odense University Hospital, Odense., Olopade OI; The University of Chicago Center for Clinical Cancer Genetics, Chicago, IL., Pachter NS; King Edward Memorial Hospital, Perth, Western Australia., Palmero EI; Barretos Cancer Hospital, Barretos, São Paulo, Brazil., Pedersen IS; Aalborg University Hospital, Aalborg, Denmark., Piane M; Sapienza University of Rome and Sant'Andrea Hospital, Rome., Puzzo M; Azienda Ospedaliera di Cosenza, Cosenza., Robson M; Memorial Sloan Kettering Cancer Center, New York, NY., Rossing M; Copenhagen University Hospital, Rigshospitalet, Copenhagen., Sini MC; Institute of Biomolecular Chemistry, National Research Council, Sassari., Solano A; University of Buenos Aires, Buenos Aires, Argentina., Soukupova J; Charles University, Prague, Czech Republic., Tedaldi G; Istituto Scientifico Romagnolo per lo Studio e la Cura dei Tumori, IRCCS, Meldola., Teixeira M; Instituto Português de Oncologia do Porto Francisco Gentil, Porto, Portugal., Thomassen M; Odense University Hospital, Odense., Tibiletti MG; Ospedale di Circolo, ASST dei Sette Laghi, Varese., Toland A; Ohio State University, Columbus, OH., Törngren T; Lund University, Lund, Sweden., Vaccari E; Dana-Farber Cancer Institute, Boston, MA., Varesco L; Ospedale Policlinico San Martino IRCCS per l'Oncologia, Genoa., Vega A; Universidad de Santiago de Compostela, Santiago de Compostela, Spain., Wallis Y; Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Wappenschmidt B; University Hospital Cologne and German Consortium of Hereditary Breast and Ovarian Cancer, Cologne, Germany., Weitzel J; City of Hope, Duarte, CA., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., De Nicolo A; Veneto Institute of Oncology IOV-IRCCS, Padua, Italy., Gómez-García EB; Maastricht University Medical Center, Maastricht.

Publikováno v: JCO precision oncology [JCO Precis Oncol] 2018; Vol. 2. Date of Electronic Publication: 2018 Oct 26.

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

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

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

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

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

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

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Autor: Paganini I; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy., Chang VY; Division of Hematology-Oncology, Department of Pediatrics, University of California Los Angeles, Los Angeles, CA, USA., Capone GL; 1] Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy [2] FIORGEN Fondazione Farmacogenomica Polo Scientifico, Sesto Fiorentino, Florence, Italy., Vitte J; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Benelli M; Diagnostic Genetics Unit, Azienda Ospedaliero-Universitaria 'Careggi', Florence, Italy., Barbetti L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy., Sestini R; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy., Trevisson E; Department of Woman and Child Health, Clinical Genetics Unit, University of Padua, Padua, Italy., Hulsebos TJ; Department of Genome Analysis, Academic Medical Center, Amsterdam, The Netherlands., Giovannini M; Department of Head and Neck Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Nelson SF; Department of Human Genetics, Pathology and Laboratory Medicine, and Psychiatry, University of California, Los Angeles, CA, USA., Papi L; Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Jul; Vol. 23 (7), pp. 963-8. Date of Electronic Publication: 2014 Oct 22.