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المؤلفون: Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark., Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Hansen TVO; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Menendez M; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDTP, CIBERONC, Hospitalet de Llobregat, Spain., Rossing M; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Esteban-Sánchez A; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Tudini E; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Törngren T; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Teo SH; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odence C, Denmark., Møller P; Department of Tumour Biology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway., Borg Å; Division of Oncology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark., Christensen LL; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Singer CF; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Muhr D; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Santamarina M; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Brandao R; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Andresen BS; Department of Biochemistry and Molecular Biology and the Villum Center for Bioanalytical Sciences, University of Southern Denmark, Odense, Denmark., Feng BJ; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA., Canson D; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Richardson ME; Ambry Genetics, Aliso Viejo, California, USA., Karam R; Ambry Genetics, Aliso Viejo, California, USA., Pesaran T; Ambry Genetics, Aliso Viejo, California, USA., LaDuca H; Ambry Genetics, Aliso Viejo, California, USA., Conner BR; Ambry Genetics, Aliso Viejo, California, USA., Abualkheir N; Ambry Genetics, Aliso Viejo, California, USA., Hoang L; Ambry Genetics, Aliso Viejo, California, USA., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Andrews L; Hereditary Cancer Clinic, Nelune Comprehensive Cancer Care Centre, Sydney, New South Wales, Australia., 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., Bunyan D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Hamblett A; Middlesex Health Shoreline Cancer Center, Westbrook, Connecticut, USA., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA., Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Claes KBM; Centre for Medical Genetics, Ghent University, Gent, Belgium., Macháčková E; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK., Viel A; Division of Functional Onco-genomics and Genetics, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy., 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., Lazaro C; Hereditary Cancer Program, Catalan Institute of Oncology, ONCOBELL-IDIBELL-IDTP, CIBERONC, Hospitalet de Llobregat, Spain., Vega A; Fundación Pública Galega de Medicina Xenómica, Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Complejo Hospitalario Universitario de Santiago, SERGAS, Santiago de Compostela, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Madrid, Spain., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

مؤلفون مشاركون: ENIGMA Consortium; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

المصدر: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1921-1944. Date of Electronic Publication: 2022 Oct 23.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Genes, BRCA2* , RNA Splice Sites*, Animals ; Humans ; Mice ; Alternative Splicing ; BRCA2 Protein/genetics ; BRCA2 Protein/metabolism ; RNA Splicing ; RNA, Messenger/genetics ; RNA, Messenger/metabolism

المؤلفون: Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., de la Hoya M; Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos, Hospital Clinico San Carlos, Madrid, Spain., Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vrieling H; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Vreeswijk@lumc.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1427-1428.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., de la Hoya M; Molecular Oncology Laboratory, Instituto de Investigacion Sanitaria San Carlos, Hospital Clinico San Carlos, Madrid, Spain., Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vrieling H; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands. Vreeswijk@lumc.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1355-1365. Date of Electronic Publication: 2020 May 13.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Alternative Splicing*/genetics , BRCA2 Protein*/genetics, Humans ; RNA Splice Sites/genetics ; RNA Splicing ; RNA, Messenger/genetics ; Virulence

المؤلفون: Meulemans L; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Caputo SM; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Krieger S; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Laboratory of Cancer Biology and Genetics, Centre François Baclesse, Caen, France.; Normandie University, UNICAEN, Caen, France., Guillaud-Bataille M; Department of Genetics, Institut Gustave Roussy, Villejuif, France., Caux-Moncoutier V; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Léone M; Hospices Civils de Lyon, Bron, France., Boutry-Kryza N; Hospices Civils de Lyon, Bron, France., Sokolowska J; Department of Genetics, Nancy University Hospital, Nancy, France., Révillion F; Unit of Human Molecular Oncology, Centre Oscar Lambret, Lille, France., Delnatte C; Department of Genetics, Nantes University Hospital, Nantes, France., Tubeuf H; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Interactive Biosoftware, Rouen, France., Soukarieh O; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Bonnet-Dorion F; Inserm U916, Department of Genetics, Institut Bergonié, Bordeaux, France., Guibert V; Department of Genetics, Nantes University Hospital, Nantes, France., Bronner M; Department of Genetics, Nancy University Hospital, Nancy, France., Bourdon V; Department of Genetics, Institut Paoli-Calmettes, Marseille, France., Lizard S; Department of Genetics, Nancy University Hospital, Nancy, France., Vilquin P; Department of Pathology and Oncobiology, Montpellier University Hospital, Montpellier, France., Privat M; University of Clermont Auvergne, Inserm U1240, Clermont Ferrand, France.; Department of Oncogenetics, Centre Jean Perrin, Clermont Ferrand, France., Drouet A; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Grout C; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Golmard L; Department of Genetics, Institut Curie, Paris, France.; PSL Research University, Paris, France., Vrieling H; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France.; Inserm U830, University Paris Descartes, Paris, France., Houdayer C; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, Institut Curie, Paris, France.; Department of Genetics, Rouen University Hospital, Rouen, France., Frebourg T; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Department of Genetics, Rouen University Hospital, Rouen, France., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Martins A; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France., Gaildrat P; Normandie Univ, UNIROUEN, Inserm U1245, Normandy Centre for Genomic and Personalized Medicine, Rouen, France. pascaline.gaildrat@univ-rouen.fr.

المصدر: Cancer research [Cancer Res] 2020 Apr 01; Vol. 80 (7), pp. 1374-1386. Date of Electronic Publication: 2020 Feb 11.

نوع المنشور: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: Alternative Splicing* , Genetic Predisposition to Disease*, BRCA2 Protein/*genetics , Hereditary Breast and Ovarian Cancer Syndrome/*genetics, Adult ; Aged ; Aged, 80 and over ; Animals ; Cell Line, Tumor ; Embryonic Stem Cells ; Exons/genetics ; Female ; Humans ; Loss of Function Mutation ; Male ; Mice ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Recombinant Proteins/genetics

المؤلفون: Mesman RLS; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., Hendriks G; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., Morolli B; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., Misovic B; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., Devilee P; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands.; Department of Pathology, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center, PO Box 9600, 2300RC, Leiden, The Netherlands., Vrieling H; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands., Vreeswijk MPG; Department of Human Genetics, Leiden University Medical Center, PO Box 9600, Leiden, 2300RC, The Netherlands. Vreeswijk@lumc.nl.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Feb; Vol. 21 (2), pp. 293-302. Date of Electronic Publication: 2018 Jul 10.

نوع المنشور: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genes, BRCA2* , Genetic Variation* , Mouse Embryonic Stem Cells*/drug effects, Breast Neoplasms/*genetics, Animals ; Antineoplastic Agents/pharmacology ; Blotting, Western ; Cell Cycle ; Cells, Cultured ; Cisplatin/pharmacology ; Fluorobenzenes/pharmacology ; Genetic Complementation Test ; Humans ; Mice ; Mutation, Missense ; Phthalazines/pharmacology ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Real-Time Polymerase Chain Reaction ; Transfection

المؤلفون: Shimelis H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Mesman RLS; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Von Nicolai C; Genotoxic Stress and Cancer, Institut Curie, Orsay, France., Ehlen A; Genotoxic Stress and Cancer, Institut Curie, Orsay, France., Guidugli L; Department of Human Genetics, University of Chicago, Chicago, Illinois., Martin C; Research Center, Institute Curie, Orsay, France., Calléja FMGR; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Meeks H; Cancer Control and Population Sciences, University of Utah, Salt Lake City, Utah., Hallberg E; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Hinton J; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Lilyquist J; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Hu C; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Aalfs CM; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Andrulis I; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Canada., Anton-Culver H; Department of Epidemiology, University of California Irvine, Irvine, California., Arndt V; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany., Beckmann MW; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany., Benitez J; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Bogdanova NV; Department of Radiation Oncology, Hannover Medical School, Hannover, Germany.; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany., Bojesen SE; Copenhagen General Population Study, Herlevand Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark.; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bolla MK; Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Borresen-Dale AL; Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital Radiumhospitalet, Oslo, Norway.; K.G. Jebsen Center for Breast Cancer Research, Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway., Brauch H; Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany.; University of Tübingen, Tübingen, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany., Brennan P; International Agency for Research on Cancer, Lyon, France., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany., Broeks A; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands., Brouwers B; Laboratory of Experimental Oncology, Department of Oncology, University Hospitals Leuven, Leuven, Belgium.; Department of General Medical Oncology, Leuven Cancer Institute, University Hospitals Leuven, Leuven, Belgium., Brüning T; Institute for Prevention and Occupational Medicine of the German Social Accident Insurance, Institute of the Ruhr University Bochum, Bochum, Germany., Burwinkel B; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.; Molecular Epidemiology Group, German Cancer Research Center (DKFZ), Heidelberg, Germany., Chang-Claude J; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.; University Cancer Center Hamburg (UCCH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Chenevix-Trench G, Cheng CY; Singapore Eye Research Institute, National University of Singapore, Singapore, Singapore., Choi JY; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Korea., Collée JM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands., Cox A; Sheffield Cancer Research, Department of Oncology and Metabolism, University of Sheffield, Sheffield, United Kingdom., Cross SS; Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Darabi H; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Dennis J; Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Dörk T; Gynaecology Research Unit, Hannover Medical School, Hannover, Germany., Dos-Santos-Silva I; Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, United Kingdom., Dunning AM; Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Fasching PA; Department of Gynaecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Comprehensive Cancer Center Erlangen-EMN, Erlangen, Germany.; Department of Medicine, Division of Hematology and Oncology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California., Figueroa J; Usher Institute of Population Health Sciences and Informatics, The University of Edinburgh Medical School, Edinburgh, United Kingdom.; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Flyger H; Department of Breast Surgery, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, Denmark., García-Closas M; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland., Giles GG; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia., Glendon G; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, Canada., Guénel P; Cancer & Environment Group, Center for Research in Epidemiology and Population Health (CESP), INSERM, University Paris-Sud, University Paris-Saclay, Villejuif, France., Haiman CA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany., Hartman M; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore.; Department of Surgery, National University Health System, Singapore, Singapore., Hogervorst FB; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands., Hollestelle A; Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Hopper JL; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia., Ito H; Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, Nagoya, Japan.; Department of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Kang D; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.; Cancer Research Institute, Seoul National University, Seoul, Korea.; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, Korea., Kosma VM; Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.; Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland., Kristensen V, Lai KN; Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia., Lambrechts D; Vesalius Research Center, Leuven, Belgium.; Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Leuven, Belgium., Marchand LL; University of Hawaii Cancer Center, Honolulu, Hawaii., Li J; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Lindblom A; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lophatananon A; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, United Kingdom., Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland., Machackova E; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic., Mannermaa A; Cancer Center of Eastern Finland, University of Eastern Finland, Kuopio, Finland.; Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Department of Clinical Pathology, Kuopio University Hospital, Kuopio, Finland., Margolin S; Department of Oncology - Pathology, Karolinska Institutet, Stockholm, Sweden., Marme F; Department of Obstetrics and Gynecology, University of Heidelberg, Heidelberg, Germany.; National Center for Tumor Diseases, University of Heidelberg, Heidelberg, Germany., Matsuo K; Department of Epidemiology, Nagoya University Graduate School of Medicine, Nagoya, Japan.; Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan., Miao H; Saw Swee Hock School of Public Health, National University of Singapore, Singapore, Singapore., Michailidou K; Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Milne RL; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Australia., Muir K; Division of Health Sciences, Warwick Medical School, Warwick University, Coventry, United Kingdom.; Institute of Population Health, University of Manchester, Manchester, United Kingdom., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California., Nevanlinna H; Department of Obstetrics and Gynecology, Helsinki University Hospital, University of Helsinki, Helsinki, Finland., Olson JE; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Olswold C; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Oosterwijk JJC; Department of Genetics, University of Groningen, Groningen, the Netherlands., Osorio A; Human Cancer Genetics Program, Spanish National Cancer Research Centre, Madrid, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Valencia, Spain., Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, Milan, Italy., Peto J; Department of Non-Communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London, United Kingdom., Pharoah PDP; Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.; Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Pylkäs K; Laboratory of Cancer Genetics and Tumor Biology, Cancer and Translational Medicine Research Unit, Biocenter Oulu, University of Oulu, Oulu, Finland.; Laboratory of Cancer Genetics and Tumor Biology, Northern Finland Laboratory Centre Oulu, Oulu, Finland., Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy., Rashid MU; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan., Rhenius V; Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Rudolph A; Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Sangrajrang S; National Cancer Institute, Bangkok, Thailand., Sawyer EJ; Research Oncology, Guy's Hospital, King's College London, London, United Kingdom., Schmidt MK; Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, the Netherlands., Schoemaker MJ; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.; Division of Breast Cancer Research, The Institute of Cancer Research, London, United Kingdom., Seynaeve C; Department of Medical Oncology, Family Cancer Clinic, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Shah M; Department of Oncology, University of Cambridge, Cambridge, United Kingdom., Shen CY; School of Public Health, China Medical University, Taichung, Taiwan.; Taiwan Biobank, Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan., Shrubsole M; Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee., Shu XO; Division of Epidemiology, Department of Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee., Slager S; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota., Southey MC; Department of Pathology, The University of Melbourne, Melbourne, Australia., Stram DO; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California., Swerdlow A; Division of Genetics and Epidemiology, The Institute of Cancer Research, London, United Kingdom.; Division of Breast Cancer Research, The Institute of Cancer Research, London, United Kingdom., Teo SH; Cancer Research Initiatives Foundation, Subang Jaya, Selangor, Malaysia.; Breast Cancer Research Unit, Cancer Research Institute, University Malaya Medical Centre, Kuala Lumpur, Malaysia., Tomlinson I; 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مؤلفون مشاركون: for kConFab/AOCS Investigators, for NBCS Collaborators

المصدر: Cancer research [Cancer Res] 2017 Jun 01; Vol. 77 (11), pp. 2789-2799. Date of Electronic Publication: 2017 Mar 10.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE

مواضيع طبية MeSH: BRCA2 Protein/*genetics , Breast Neoplasms/*genetics, Aged ; Amino Acid Substitution ; Animals ; Case-Control Studies ; Female ; Genotype ; Germ-Line Mutation ; Humans ; Mice ; Mutation, Missense ; Risk