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Tytuł:
Phenotype analysis of families with TP53 germline variants at the Center for Familial Breast and Ovarian Cancer, Cologne.
Autorzy:
Kast K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Larsen M; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Wappenschmidt B; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Schmutzler R; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
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Źródło:
Cancer medicine [Cancer Med] 2024 Feb; Vol. 13 (3), pp. e6920. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Ovarian Neoplasms*/epidemiology
Ovarian Neoplasms*/genetics
Li-Fraumeni Syndrome*/epidemiology
Li-Fraumeni Syndrome*/genetics
Breast Neoplasms*
Humans ; Female ; Tumor Suppressor Protein p53/genetics ; Phenotype ; Breast ; Germ Cells
SCR Disease Name:
Breast Cancer, Familial
Czasopismo naukowe
Tytuł:
Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers.
Autorzy:
Borde J; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany.
Laitman Y; Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Blümcke B; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany.
Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Duesseldorf, Heinrich-Heine University, Duesseldorf, Germany.
Weber-Lassalle K; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany.
Sutter C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
Rump A; Institute of Clinical Genetics, Technische Universitaet Dresden, Dresden, Germany.
Arnold N; Institute of Clinical Molecular Biology, Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.
Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Horváth J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany.
Gehrig A; Institute of Human Genetics, Julius-Maximilians University, Wuerzburg, Germany.
Schmidt G; Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
Dutrannoy V; Institute of Medical and Human Genetics, Charité Universitaetsmedizin, Berlin, Germany.
Ramser J; Department for Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Hentschel J; Institute of Human Genetics, University of Leipzig Hospitals and Clinics, Leipzig, Germany.
Meindl A; Department of Gynaecology and Obstetrics, LMU Munich, University Hospital Munich, Munich, Germany.
Schroeder C; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology (IMISE), Leipzig, Germany.
Kuchenbaecker K; Division of Psychiatry, University College London, London, UK.; UCL Genetics Institute, University College London, London, UK.
Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany.
Friedman E; Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Israel.; Sackler School of Medicine, Tel Aviv University, Tel-Aviv, Israel.
Hahnen E; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany.
Ernst C; Center for Familial Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Kerpener Straße 62, Cologne, 50937, Germany. .
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Źródło:
BMC cancer [BMC Cancer] 2022 Jun 27; Vol. 22 (1), pp. 706. Date of Electronic Publication: 2022 Jun 27.
Typ publikacji:
Journal Article
MeSH Terms:
Breast Neoplasms*/pathology
Ovarian Neoplasms*/genetics
Age of Onset ; BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Female ; Genes, BRCA2 ; Genetic Predisposition to Disease ; Humans ; Mutation ; Risk Factors
Czasopismo naukowe
Tytuł:
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
Autorzy:
Osorio A; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.
Milne RL; Cancer Epidemiology Centre, Cancer Council Victoria, Melbourne, Australia.
Kuchenbaecker K; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Vaclová T; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.
Pita G; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Alonso R; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Peterlongo P; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy.
Blanco I; Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
de la Hoya M; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain.
Duran M; Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain.
Díez O; Oncogenetics Laboratory, University Hospital Vall d'Hebron, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Institut de Recerca (VHIR), and Universitat Autonoma de Barcelona, Barcelona, Spain.
Ramón Y Cajal T; Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Konstantopoulou I; Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece.
Martínez-Bouzas C; Molecular Genetics Laboratory (Department of Biochemistry), Cruces Hospital Barakaldo, Bizkaia, Spain.
Andrés Conejero R; Medical Oncology Service, Hospital Clínico Lozano Blesa, San Juan Bosco, Zaragoza, Spain.
Soucy P; Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada.
McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Barrowdale D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Lee A; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Arver B; Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Rantala J; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Loman N; Department of Oncology, Lund University Hospital, Lund, Sweden.
Ehrencrona H; Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.
Olopade OI; Center for Clinical Cancer Genetics and Global Health, University of Chicago Medical Center, Chicago, Illinois, United States of America.
Beattie MS; Departments of Medicine, Epidemiology, and Biostatistics, University of California, San Francisco, San Francisco, California, United States of America.
Domchek SM; Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.
Nathanson K; Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.
Rebbeck TR; Abramson Cancer Center and Center for Clinical Epidemiology and Biostatistics, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
Arun BK; University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
Karlan BY; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
Walsh C; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
Lester J; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, California, United States of America.
John EM; Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America.
Whittemore AS; Department of Health Research & Policy, Stanford University School of Medicine, Stanford, California, United States of America.
Daly MB; Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Southey M; Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, Australia.
Hopper J; Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, Victoria, Australia.
Terry MB; Department of Epidemiology, Columbia University, New York, New York, United States of America.
Buys SS; Department of Oncological Sciences, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.
Janavicius R; Vilnius University Hospital Santariskiu Clinics, Hematology, oncology and transfusion medicine center, Department of Molecular and Regenerative Medicine, Vilnius, Lithuania.
Dorfling CM; Department of Genetics, University of Pretoria, Pretoria, South Africa.
van Rensburg EJ; Department of Genetics, University of Pretoria, Pretoria, South Africa.
Steele L; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Ding YC; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Hansen TV; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Jønson L; Center for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Ejlertsen B; Department of Oncology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Gerdes AM; Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Infante M; Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain.
Herráez B; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Moreno LT; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
Weitzel JN; Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America.
Herzog J; Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America.
Weeman K; Clinical Cancer Genetics, City of Hope, Duarte, California, United States of America.
Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Peissel B; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Zaffaroni D; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Scuvera G; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia, Milan, Italy.
Mariette F; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
Volorio S; IFOM, Fondazione Istituto FIRC di Oncologia Molecolare and Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
Viel A; Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano, Italy.
Varesco L; Unit of Hereditary Cancer, Department of Epidemiology, Prevention and Special Functions, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.
Papi L; Unit of Medical Genetics, Department of Biomedical, Experimental and Clinical Sciences, University of Florence, Florence, Italy.
Ottini L; Department of Molecular Medicine, 'Sapienza' University, Rome, Italy.
Tibiletti MG; UO Anatomia Patologica, Ospedale di Circolo-Università dell'Insubria, Varese, Italy.
Radice P; Unit of Molecular bases of genetic risk and genetic testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy.
Yannoukakos D; Molecular Diagnostics Laboratory IRRP, National Centre for Scientific Research Demokritos Aghia Paraskevi Attikis, Athens, Greece.
Garber J; Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America.
Ellis S; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Frost D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Platte R; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Fineberg E; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Evans G; Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
Lalloo F; Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.
Izatt L; South East Thames Regional Genetics Service, Guy's Hospital London, United Kingdom.
Eeles R; Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, London, United Kingdom.
Adlard J; Yorkshire Regional Genetics Service, Leeds, United Kingdom.
Davidson R; Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Glasgow, United Kingdom.
Cole T; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom.
Eccles D; Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, United Kingdom.
Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom.
Hodgson S; Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom.
Brewer C; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, United Kingdom.
Tischkowitz M; Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom.
Douglas F; Institute of Human Genetics, Centre for Life, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom.
Porteous M; South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom.
Side L; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.
Walker L; Oxford Regional Genetics Service, Churchill Hospital, Oxford, United Kingdom.
Morrison P; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, United Kingdom.
Donaldson A; South West Regional Genetics Service, Bristol, United Kingdom.
Kennedy J; Academic Unit of Clinical and Molecular Oncology, Trinity College Dublin and St James's Hospital, Dublin, Eire.
Foo C; Cheshire & Merseyside Clinical Genetics Service, Liverpool Women's NHS Foundation Trust, Liverpool, United Kingdom.
Godwin AK; Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America.
Schmutzler RK; Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
Wappenschmidt B; Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
Rhiem K; Centre of Familial Breast and Ovarian Cancer and Centre for Integrated Oncology (CIO), University Hospital of Cologne, Cologne, Germany.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany.
Meindl A; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Ditsch N; Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Arnold N; Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Plendl HJ; Institute of Human Genetics, University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.
Niederacher D; Department of Gynaecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany.
Sutter C; Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany.
Steinemann D; Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany.
Preisler-Adams S; Institute of Human Genetics, University of Münster, Münster, Germany.
Kast K; Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden, Germany.
Varon-Mateeva R; Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Berlin, Germany.
Gehrig A; Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Würzburg, Germany.
Stoppa-Lyonnet D; Institut Curie, Department of Tumour Biology, Paris, France; Institut Curie, INSERM U830, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Sinilnikova OM; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, Lyon, France; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Mazoyer S; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Damiola F; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Poppe B; Center for Medical Genetics, Ghent University, Ghent, Belgium.
Claes K; Center for Medical Genetics, Ghent University, Ghent, Belgium.
Piedmonte M; Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America.
Tucker K; Prince of Wales Hospital. Sydney, Australia.
Backes F; Ohio State University, Columbus Cancer Council, Columbus, Ohio, United States of America.
Rodríguez G; Division of Gynecologic Oncology, NorthShore University HealthSystem, Evanston, Illinois, United States of America.
Brewster W; Division of Gynecologic Oncology, NorthShore University HealthSystem, Chicago, Illinois, United States of America.
Wakeley K; For Tufts Medical Center, Boston, Massachusetts, United States of America.
Rutherford T; Yale University School of Medicine, New Haven, Connecticut, United States of America.
Caldés T; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC, Madrid, Spain.
Nevanlinna H; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Aittomäki K; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Rookus MA; Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
van Os TA; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
van der Kolk L; Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands.
de Lange JL; Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Meijers-Heijboer HE; Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
van der Hout AH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
van Asperen CJ; Department of Clinical Genetics, Leiden University Medical Center Leiden, Leiden, The Netherlands.
Gómez Garcia EB; Department of Clinical Genetics and GROW, School for Oncology and Developmental Biology, MUMC, Maastricht, The Netherlands.
Hoogerbrugge N; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Collée JM; Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
van Deurzen CH; Department of Pathology, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands.
van der Luijt RB; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Devilee P; Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Lázaro C; Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Teulé A; Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Menéndez M; Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL-Catalan Institute of Oncology, Barcelona, Spain.
Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Cybulski C; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Gronwald J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Lubinski J; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Durda K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Jaworska-Bieniek K; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland; Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland.
Johannsson OT; Department of Oncology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik Iceland.
Maugard C; Laboratoire de Diagnostic Génétique et Service d'Onco-hématologie, Hopitaux Universitaire de Strasbourg, CHRU Nouvel Hôpital Civil, Strasbourg, France.
Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Tognazzo S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV - IRCCS, Padua, Italy.
Teixeira MR; Department of Genetics, Portuguese Oncology Institute, Porto, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal.
Healey S; Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia.
Olswold C; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Guidugli L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
Lindor N; Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America.
Slager S; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Szabo CI; Center for Translational Cancer Research, Department of Biological Sciences, University of Delaware, Newark, Delaware, United States of America.
Vijai J; Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Robson M; Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Kauff N; Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Zhang L; Diagnostic Molecular Genetics Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Rau-Murthy R; Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Fink-Retter A; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Singer CF; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Rappaport C; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Geschwantler Kaulich D; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Pfeiler G; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Tea MK; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Berger A; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Phelan CM; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America.
Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.
Mai PL; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America.
Lejbkowicz F; Clalit National Israeli Cancer Control Center, Haifa, Israel.
Andrulis I; Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada, and Cancer Care Ontario, Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Mulligan AM; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada; Laboratory Medicine Program, University Health Network, Toronto, Ontario, Canada.
Glendon G; Ontario Cancer Genetics Network: Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada.
Toland AE; Division of Human Cancer Genetics, Departments of Internal Medicine and Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio, United States of America.
Bojesen A; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
Pedersen IS; Section of Molecular Diagnostics, Department of Clinical Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Sunde L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Kruse TA; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Friedman E; Sheba Medical Center, Tel Aviv, Israel.
Laitman Y; Sheba Medical Center, Tel Aviv, Israel.
Shimon SP; Sheba Medical Center, Tel Aviv, Israel.
Simard J; Canada Research Chair in Oncogenetics, Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec and Laval University, Quebec City, Canada.
Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Offit K; Clinical Genetics Service, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America; Cancer Biology and Genetics Program, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Couch FJ; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
Chenevix-Trench G; Department of Genetics and Computational Biology, Queensland Institute of Medical Research, Brisbane, Australia.
Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Benitez J; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain; Genotyping Unit (CeGen), Spanish National Cancer Centre (CNIO), Madrid, Spain.
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Corporate Authors:
SWE-BRCA; Department of Oncology, Lund University, Lund, Sweden.
HEBON; The Hereditary Breast and Ovarian Cancer Research Group, Netherlands Cancer Institute, Amsterdam, The Netherlands.
KConFab Investigators; Kathleen Cuningham Consortium for Research into Familial Breast Cancer, Peter MacCallum Cancer Center, Melbourne, Australia.
Źródło:
PLoS genetics [PLoS Genet] 2014 Apr 03; Vol. 10 (4), pp. e1004256. Date of Electronic Publication: 2014 Apr 03 (Print Publication: 2014).
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
MeSH Terms:
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
DNA Glycosylases/*genetics
DNA Repair/*genetics
Ovarian Neoplasms/*genetics
Polymorphism, Single Nucleotide/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Genetic Predisposition to Disease ; Genotype ; Humans ; Middle Aged ; Risk
Czasopismo naukowe
Tytuł:
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.
Autorzy:
Bojesen SE; Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark. />Pooley KA
Johnatty SE
Beesley J
Michailidou K
Tyrer JP
Edwards SL
Pickett HA
Shen HC
Smart CE
Hillman KM
Mai PL
Lawrenson K
Stutz MD
Lu Y
Karevan R
Woods N
Johnston RL
French JD
Chen X
Weischer M
Nielsen SF
Maranian MJ
Ghoussaini M
Ahmed S
Baynes C
Bolla MK
Wang Q
Dennis J
McGuffog L
Barrowdale D
Lee A
Healey S
Lush M
Tessier DC
Vincent D
Bacot F
Vergote I
Lambrechts S
Despierre E
Risch HA
González-Neira A
Rossing MA
Pita G
Doherty JA
Alvarez N
Larson MC
Fridley BL
Schoof N
Chang-Claude J
Cicek MS
Peto J
Kalli KR
Broeks A
Armasu SM
Schmidt MK
Braaf LM
Winterhoff B
Nevanlinna H
Konecny GE
Lambrechts D
Rogmann L
Guénel P
Teoman A
Milne RL
Garcia JJ
Cox A
Shridhar V
Burwinkel B
Marme F
Hein R
Sawyer EJ
Haiman CA
Wang-Gohrke S
Andrulis IL
Moysich KB
Hopper JL
Odunsi K
Lindblom A
Giles GG
Brenner H
Simard J
Lurie G
Fasching PA
Carney ME
Radice P
Wilkens LR
Swerdlow A
Goodman MT
Brauch H
Garcia-Closas M
Hillemanns P
Winqvist R
Dürst M
Devilee P
Runnebaum I
Jakubowska A
Lubinski J
Mannermaa A
Butzow R
Bogdanova NV
Dörk T
Pelttari LM
Zheng W
Leminen A
Anton-Culver H
Bunker CH
Kristensen V
Ness RB
Muir K
Edwards R
Meindl A
Heitz F
Matsuo K
du Bois A
Wu AH
Harter P
Teo SH
Schwaab I
Shu XO
Blot W
Hosono S
Kang D
Nakanishi T
Hartman M
Yatabe Y
Hamann U
Karlan BY
Sangrajrang S
Kjaer SK
Gaborieau V
Jensen A
Eccles D
Høgdall E
Shen CY
Brown J
Woo YL
Shah M
Azmi MA
Luben R
Omar SZ
Czene K
Vierkant RA
Nordestgaard BG
Flyger H
Vachon C
Olson JE
Wang X
Levine DA
Rudolph A
Weber RP
Flesch-Janys D
Iversen E
Nickels S
Schildkraut JM
Silva Idos S
Cramer DW
Gibson L
Terry KL
Fletcher O
Vitonis AF
van der Schoot CE
Poole EM
Hogervorst FB
Tworoger SS
Liu J
Bandera EV
Li J
Olson SH
Humphreys K
Orlow I
Blomqvist C
Rodriguez-Rodriguez L
Aittomäki K
Salvesen HB
Muranen TA
Wik E
Brouwers B
Krakstad C
Wauters E
Halle MK
Wildiers H
Kiemeney LA
Mulot C
Aben KK
Laurent-Puig P
Altena AM
Truong T
Massuger LF
Benitez J
Pejovic T
Perez JI
Hoatlin M
Zamora MP
Cook LS
Balasubramanian SP
Kelemen LE
Schneeweiss A
Le ND
Sohn C
Brooks-Wilson A
Tomlinson I
Kerin MJ
Miller N
Cybulski C
Henderson BE
Menkiszak J
Schumacher F
Wentzensen N
Le Marchand L
Yang HP
Mulligan AM
Glendon G
Engelholm SA
Knight JA
Høgdall CK
Apicella C
Gore M
Tsimiklis H
Song H
Southey MC
Jager A
den Ouweland AM
Brown R
Martens JW
Flanagan JM
Kriege M
Paul J
Margolin S
Siddiqui N
Severi G
Whittemore AS
Baglietto L
McGuire V
Stegmaier C
Sieh W
Müller H
Arndt V
Labrèche F
Gao YT
Goldberg MS
Yang G
Dumont M
McLaughlin JR
Hartmann A
Ekici AB
Beckmann MW
Phelan CM
Lux MP
Permuth-Wey J
Peissel B
Sellers TA
Ficarazzi F
Barile M
Ziogas A
Ashworth A
Gentry-Maharaj A
Jones M
Ramus SJ
Orr N
Menon U
Pearce CL
Brüning T
Pike MC
Ko YD
Lissowska J
Figueroa J
Kupryjanczyk J
Chanock SJ
Dansonka-Mieszkowska A
Jukkola-Vuorinen A
Rzepecka IK
Pylkäs K
Bidzinski M
Kauppila S
Hollestelle A
Seynaeve C
Tollenaar RA
Durda K
Jaworska K
Hartikainen JM
Kosma VM
Kataja V
Antonenkova NN
Long J
Shrubsole M
Deming-Halverson S
Lophatananon A
Siriwanarangsan P
Stewart-Brown S
Ditsch N
Lichtner P
Schmutzler RK
Ito H
Iwata H
Tajima K
Tseng CC
Stram DO
van den Berg D
Yip CH
Ikram MK
Teh YC
Cai H
Lu W
Signorello LB
Cai Q
Noh DY
Yoo KY
Miao H
Iau PT
Teo YY
McKay J
Shapiro C
Ademuyiwa F
Fountzilas G
Hsiung CN
Yu JC
Hou MF
Healey CS
Luccarini C
Peock S
Stoppa-Lyonnet D
Peterlongo P
Rebbeck TR
Piedmonte M
Singer CF
Friedman E
Thomassen M
Offit K
Hansen TV
Neuhausen SL
Szabo CI
Blanco I
Garber J
Narod SA
Weitzel JN
Montagna M
Olah E
Godwin AK
Yannoukakos D
Goldgar DE
Caldes T
Imyanitov EN
Tihomirova L
Arun BK
Campbell I
Mensenkamp AR
van Asperen CJ
van Roozendaal KE
Meijers-Heijboer H
Collée JM
Oosterwijk JC
Hooning MJ
Rookus MA
van der Luijt RB
Os TA
Evans DG
Frost D
Fineberg E
Barwell J
Walker L
Kennedy MJ
Platte R
Davidson R
Ellis SD
Cole T
Bressac-de Paillerets B
Buecher B
Damiola F
Faivre L
Frenay M
Sinilnikova OM
Caron O
Giraud S
Mazoyer S
Bonadona V
Caux-Moncoutier V
Toloczko-Grabarek A
Gronwald J
Byrski T
Spurdle AB
Bonanni B
Zaffaroni D
Giannini G
Bernard L
Dolcetti R
Manoukian S
Arnold N
Engel C
Deissler H
Rhiem K
Niederacher D
Plendl H
Sutter C
Wappenschmidt B
Borg A
Melin B
Rantala J
Soller M
Nathanson KL
Domchek SM
Rodriguez GC
Salani R
Kaulich DG
Tea MK
Paluch SS
Laitman Y
Skytte AB
Kruse TA
Jensen UB
Robson M
Gerdes AM
Ejlertsen B
Foretova L
Savage SA
Lester J
Soucy P
Kuchenbaecker KB
Olswold C
Cunningham JM
Slager S
Pankratz VS
Dicks E
Lakhani SR
Couch FJ
Hall P
Monteiro AN
Gayther SA
Pharoah PD
Reddel RR
Goode EL
Greene MH
Easton DF
Berchuck A
Antoniou AC
Chenevix-Trench G
Dunning AM
Pokaż więcej
Corporate Authors:
Australian Cancer Study
Australian Ovarian Cancer Study
Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
Gene Environment Interaction and Breast Cancer (GENICA)
Swedish Breast Cancer Study (SWE-BRCA)
Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON)
Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE)
Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO)
Źródło:
Nature genetics [Nat Genet] 2013 Apr; Vol. 45 (4), pp. 371-84, 384e1-2.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Biomarkers, Tumor/*genetics
Breast Neoplasms/*etiology
Genetic Loci/*genetics
Ovarian Neoplasms/*etiology
Polymorphism, Single Nucleotide/*genetics
Telomerase/*genetics
Telomere/*genetics
Alternative Splicing ; Breast Neoplasms/pathology ; Case-Control Studies ; Chromatin/genetics ; DNA Methylation ; Female ; Gene Expression Profiling ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Luciferases/metabolism ; Oligonucleotide Array Sequence Analysis ; Ovarian Neoplasms/pathology ; RNA, Messenger/genetics ; Real-Time Polymerase Chain Reaction ; Reverse Transcriptase Polymerase Chain Reaction ; Risk Factors
Czasopismo naukowe
Tytuł:
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
Autorzy:
Couch FJ; Department of Laboratory Medicine and Pathology, and Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA.
Wang X
McGuffog L
Lee A
Olswold C
Kuchenbaecker KB
Soucy P
Fredericksen Z
Barrowdale D
Dennis J
Gaudet MM
Dicks E
Kosel M
Healey S
Sinilnikova OM
Lee A
Bacot F
Vincent D
Hogervorst FB
Peock S
Stoppa-Lyonnet D
Jakubowska A
Radice P
Schmutzler RK
Domchek SM
Piedmonte M
Singer CF
Friedman E
Thomassen M
Hansen TV
Neuhausen SL
Szabo CI
Blanco I
Greene MH
Karlan BY
Garber J
Phelan CM
Weitzel JN
Montagna M
Olah E
Andrulis IL
Godwin AK
Yannoukakos D
Goldgar DE
Caldes T
Nevanlinna H
Osorio A
Terry MB
Daly MB
van Rensburg EJ
Hamann U
Ramus SJ
Toland AE
Caligo MA
Olopade OI
Tung N
Claes K
Beattie MS
Southey MC
Imyanitov EN
Tischkowitz M
Janavicius R
John EM
Kwong A
Diez O
Balmaña J
Barkardottir RB
Arun BK
Rennert G
Teo SH
Ganz PA
Campbell I
van der Hout AH
van Deurzen CH
Seynaeve C
Gómez Garcia EB
van Leeuwen FE
Meijers-Heijboer HE
Gille JJ
Ausems MG
Blok MJ
Ligtenberg MJ
Rookus MA
Devilee P
Verhoef S
van Os TA
Wijnen JT
Frost D
Ellis S
Fineberg E
Platte R
Evans DG
Izatt L
Eeles RA
Adlard J
Eccles DM
Cook J
Brewer C
Douglas F
Hodgson S
Morrison PJ
Side LE
Donaldson A
Houghton C
Rogers MT
Dorkins H
Eason J
Gregory H
McCann E
Murray A
Calender A
Hardouin A
Berthet P
Delnatte C
Nogues C
Lasset C
Houdayer C
Leroux D
Rouleau E
Prieur F
Damiola F
Sobol H
Coupier I
Venat-Bouvet L
Castera L
Gauthier-Villars M
Léoné M
Pujol P
Mazoyer S
Bignon YJ
Złowocka-Perłowska E
Gronwald J
Lubinski J
Durda K
Jaworska K
Huzarski T
Spurdle AB
Viel A
Peissel B
Bonanni B
Melloni G
Ottini L
Papi L
Varesco L
Tibiletti MG
Peterlongo P
Volorio S
Manoukian S
Pensotti V
Arnold N
Engel C
Deissler H
Gadzicki D
Gehrig A
Kast K
Rhiem K
Meindl A
Niederacher D
Ditsch N
Plendl H
Preisler-Adams S
Engert S
Sutter C
Varon-Mateeva R
Wappenschmidt B
Weber BH
Arver B
Stenmark-Askmalm M
Loman N
Rosenquist R
Einbeigi Z
Nathanson KL
Rebbeck TR
Blank SV
Cohn DE
Rodriguez GC
Small L
Friedlander M
Bae-Jump VL
Fink-Retter A
Rappaport C
Gschwantler-Kaulich D
Pfeiler G
Tea MK
Lindor NM
Kaufman B
Shimon Paluch S
Laitman Y
Skytte AB
Gerdes AM
Pedersen IS
Moeller ST
Kruse TA
Jensen UB
Vijai J
Sarrel K
Robson M
Kauff N
Mulligan AM
Glendon G
Ozcelik H
Ejlertsen B
Nielsen FC
Jønson L
Andersen MK
Ding YC
Steele L
Foretova L
Teulé A
Lazaro C
Brunet J
Pujana MA
Mai PL
Loud JT
Walsh C
Lester J
Orsulic S
Narod SA
Herzog J
Sand SR
Tognazzo S
Agata S
Vaszko T
Weaver J
Stavropoulou AV
Buys SS
Romero A
de la Hoya M
Aittomäki K
Muranen TA
Duran M
Chung WK
Lasa A
Dorfling CM
Miron A
Benitez J
Senter L
Huo D
Chan SB
Sokolenko AP
Chiquette J
Tihomirova L
Friebel TM
Agnarsson BA
Lu KH
Lejbkowicz F
James PA
Hall P
Dunning AM
Tessier D
Cunningham J
Slager SL
Wang C
Hart S
Stevens K
Simard J
Pastinen T
Pankratz VS
Offit K
Easton DF
Chenevix-Trench G
Antoniou AC
Pokaż więcej
Corporate Authors:
kConFab Investigators
SWE-BRCA
Ontario Cancer Genetics Network
HEBON
EMBRACE
GEMO Study Collaborators
BCFR
CIMBA
Źródło:
PLoS genetics [PLoS Genet] 2013; Vol. 9 (3), pp. e1003212. Date of Electronic Publication: 2013 Mar 27.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Genome-Wide Association Study*
BRCA1 Protein/*genetics
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
BRCA2 Protein/genetics ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Humans ; Middle Aged ; Mutation ; Ovarian Neoplasms/pathology ; Polymorphism, Single Nucleotide ; Prognosis ; Risk Factors
Czasopismo naukowe
Tytuł:
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.
Autorzy:
Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland. />Rozkrut D
Antoniou A
Hamann U
Scott RJ
McGuffog L
Healy S
Sinilnikova OM
Rennert G
Lejbkowicz F
Flugelman A
Andrulis IL
Glendon G
Ozcelik H
Thomassen M
Paligo M
Aretini P
Kantala J
Aroer B
von Wachenfeldt A
Liljegren A
Loman N
Herbst K
Kristoffersson U
Rosenquist R
Karlsson P
Stenmark-Askmalm M
Melin B
Nathanson KL
Domchek SM
Byrski T
Huzarski T
Gronwald J
Menkiszak J
Cybulski C
Serrano P
Osorio A
Cajal TR
Tsitlaidou M
Benítez J
Gilbert M
Rookus M
Aalfs CM
Kluijt I
Boessenkool-Pape JL
Meijers-Heijboer HE
Oosterwijk JC
van Asperen CJ
Blok MJ
Nelen MR
van den Ouweland AM
Seynaeve C
van der Luijt RB
Devilee P
Easton DF
Peock S
Frost D
Platte R
Ellis SD
Fineberg E
Evans DG
Lalloo F
Eeles R
Jacobs C
Adlard J
Davidson R
Eccles D
Cole T
Cook J
Godwin A
Bove B
Stoppa-Lyonnet D
Caux-Moncoutier V
Belotti M
Tirapo C
Mazoyer S
Barjhoux L
Boutry-Kryza N
Pujol P
Coupier I
Peyrat JP
Vennin P
Muller D
Fricker JP
Venat-Bouvet L
Johannsson OT
Isaacs C
Schmutzler R
Wappenschmidt B
Meindl A
Arnold N
Varon-Mateeva R
Niederacher D
Sutter C
Deissler H
Preisler-Adams S
Simard J
Soucy P
Durocher F
Chenevix-Trench G
Beesley J
Chen X
Rebbeck T
Couch F
Wang X
Lindor N
Fredericksen Z
Pankratz VS
Peterlongo P
Bonanni B
Fortuzzi S
Peissel B
Szabo C
Mai PL
Loud JT
Lubinski J
Pokaż więcej
Corporate Authors:
OCGN
SWE-BRCA
HEBON
EMBRACE
GEMO Study Collaborators
KConFab
CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer
Źródło:
British journal of cancer [Br J Cancer] 2012 Jun 05; Vol. 106 (12), pp. 2016-24. Date of Electronic Publication: 2012 May 15.
Typ publikacji:
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Polymorphism, Genetic*
Breast Neoplasms/*genetics
Methylenetetrahydrofolate Reductase (NADPH2)/*genetics
Ovarian Neoplasms/*genetics
Repressor Proteins/*genetics
Female ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Mutation ; Prohibitins ; Risk
Czasopismo naukowe
Tytuł:
Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.
Autorzy:
Wappenschmidt B; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, Cologne, Germany.
Becker AA
Hauke J
Weber U
Engert S
Köhler J
Kast K
Arnold N
Rhiem K
Hahnen E
Meindl A
Schmutzler RK
Pokaż więcej
Źródło:
PloS one [PLoS One] 2012; Vol. 7 (12), pp. e50800. Date of Electronic Publication: 2012 Dec 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alternative Splicing/*genetics
BRCA1 Protein/*genetics
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
BRCA1 Protein/blood ; BRCA2 Protein/blood ; BRCA2 Protein/genetics ; Breast Neoplasms/blood ; Computer Simulation ; Exons/genetics ; Female ; Humans ; Introns/genetics ; Mutation ; Ovarian Neoplasms/blood ; RNA Precursors/biosynthesis ; RNA Precursors/genetics ; RNA Splice Sites/genetics
Czasopismo naukowe
Tytuł:
Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.
Autorzy:
Meindl A; Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar der Technischen Universitaet Muenchen, Munich, Germany. />Hellebrand H
Wiek C
Erven V
Wappenschmidt B
Niederacher D
Freund M
Lichtner P
Hartmann L
Schaal H
Ramser J
Honisch E
Kubisch C
Wichmann HE
Kast K
Deissler H
Engel C
Müller-Myhsok B
Neveling K
Kiechle M
Mathew CG
Schindler D
Schmutzler RK
Hanenberg H
Pokaż więcej
Źródło:
Nature genetics [Nat Genet] 2010 May; Vol. 42 (5), pp. 410-4. Date of Electronic Publication: 2010 Apr 18.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Germ-Line Mutation*
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
Alleles ; Case-Control Studies ; DNA-Binding Proteins/genetics ; Fanconi Anemia/genetics ; Female ; Germany ; Humans ; Models, Genetic ; Mutation ; Pedigree ; Phenotype
Czasopismo naukowe
    Wyświetlanie 1-8 z 8

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