المؤلفون: Shimelis, H, Mesman, RLS, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calleja, FMGR, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, CL, Aalfs, CM, Aittomaki, K, Andrulis, I, Anton-Culver, H, Arndt, V, Beckmann, MW, Benitez, J, Bogdanova, NV, Bojesen, SE, Bolla, MK, Borresen-Dale, AL, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Brouwers, B, Bruning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Cheng, CY, Choi, JY, Collee, JM, Cox, A, Cross, SS, Czene, K, Darabi, H, Dennis, J, Dork, T, Dos-Santos-Silva, I, Dunning, AM, Fasching, PA, Figueroa, J, Flyger, H, Garcia-Closas, M, Giles, GG, Glendon, G, Guenel, P, Haiman, CA, Hall, P, Hamann, U, Hartman, M, Hogervorst, FB, Hollestelle, A, Hopper, JL, Ito, H, Jakubowska, A, Kang, D, Kosma, VM, Kristensen, V, Lai, KN, Lambrechts, D, Le Marchand, L, Li, JM, Lindblom, A, Lophatananon, A, Lubinski, J, Machackova, E, Mannermaa, A, Margolin, S, Marme, F, Matsuo, K, Miao, H, Michailidou, K, Milne, RL, Muir, K, Neuhausen, SL, Nevanlinna, H, Olson, JE, Olswold, C, Oosterwijk, JJC, Osorio, A, Peterlongo, P, Peto, J, Pharoah, PDP, Pylkas, K, Radice, P, Rashid, MU, Rhenius, V, Rudolph, A, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schoemaker, MJ, Seynaeve, C, Shah, M, Shen, CY, Shrubsole, M, Shu, XO, Slager, S, Southey, MC, Stram, DO, Swerdlow, A, Teo, SH, Tomlinson, I, Torres, D, Truong, T, van Asperen, CJ, van der Kolk, LE, Wang, Q, Winqvist, R, Wu, AH, Yu, JC, Zheng, W, Zheng, Y, Leary, J, Walker, L, Foretova, L, Fostira, F, Claes, KBM, Varesco, L, Moghadasi, S, Easton, DF, Spurdle, A, Devilee, P, Vrieling, H, Monteiro, ANA, Goldgar, DE, Carreira, A, Vreeswijk, MPG, Couch, FJ

المصدر: Cancer research. 77(11):2789-2799

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:135919592

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