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The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Colombo, Mara; Lòpez-Perolio, Irene; Meeks, Huong D; Caleca, Laura; Parsons, Michael T; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B Gómez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Aittomäki, Kristiina; Andrulis, Irene L; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W; Beeghly-Fadel, Alicia; Benitez, Javier; Boeckx, Bram; Bogdanova, Natalia V; Bojesen, Stig E; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Chang-Claude, Jenny; Conroy, Don M; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik.
  • Colombo M; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Lòpez-Perolio I; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Meeks HD; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
  • Caleca L; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
  • Li H; Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah.
  • De Vecchi G; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.
  • Foglia C; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Mondini P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Manoukian S; Unit of Medical Genetics, Department of Medical Oncology and Hematology, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.
  • Behar R; Molecular Oncology Laboratory CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain.
  • Garcia EBG; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands.
  • Meindl A; Department of Obstetrics and Gynecology, University Hospital, LMU Munich, Germany.
  • Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
  • Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University, Duesseldorf, Germany.
  • Schmidt AY; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
  • Varesco L; Hereditary Cancer Unit, IRCCS AOU San Martino -IST, Genova, Italy.
  • Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, University Hospital of Cologne, Cologne, Germany.
  • Bolla MK; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital of Cologne, Cologne, Germany.
  • Dennis J; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Michailidou K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Wang Q; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Aittomäki K; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
  • Andrulis IL; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
  • Anton-Culver H; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland.
  • Arndt V; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Ontario.
  • Beckmann MW; Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Beeghly-Fadel A; Department of Epidemiology, University of California Irvine, Irvine, California.
  • Benitez J; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Boeckx B; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.
  • Bogdanova NV; Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.
  • Bojesen SE; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.
  • Bonanni B; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain.
  • Brauch H; VIB Center for Cancer Biology, VIB, Leuven, Belgium.
  • Brenner H; Laboratory for Translational Genetics, Department of Human Genetics, University of Leuven, Leuven, Belgium.
  • Burwinkel B; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.
  • Chang-Claude J; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany.
  • Conroy DM; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.
  • Couch FJ; Copenhagen General Population Study, Herlevand Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Cox A; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.
  • Cross SS; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
  • Czene K; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
  • Devilee P; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.
  • Dörk T; University of Tübingen, Tübingen, Germany.
  • Eriksson M; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Fasching PA; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Figueroa J; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.
  • Fletcher O; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
  • Flyger H; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.
Hum Mutat ; 39(5): 729-741, 2018 05.
Article en En | MEDLINE | ID: mdl-29460995
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Empalme del ARN / Proteína BRCA2 / Modelos Genéticos Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Año: 2018 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Variación Genética / Empalme del ARN / Proteína BRCA2 / Modelos Genéticos Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Año: 2018 Tipo del documento: Article