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Wyszukujesz frazę ""Stoppa-Lyonnet D"" wg kryterium: Autor


Tytuł:
Parental disclosure of positive BRCA1/2 mutation status to children 10 years after genetic testing.
Autorzy:
Troïan J; Aix-Marseille Université, LPS EA 849 , Aix en Provence, France.; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.
Apostolidis T; Aix-Marseille Université, LPS EA 849 , Aix en Provence, France.
Touzani R; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.
Mouret-Fourme E; Department of Genetics, Institut Curie , Paris, France.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie , Paris, France.; Institut Curie, INSERM U830 , Paris, France.; Université Paris Descartes, Sorbonne Paris Cité.
Lasset C; Département de Santé Publique, Centre Léon Bérard , Lyon, France.; CNRS UMR 5558, Laboratoire de Biométrie et Biologie Evolutive Lyon , France.; Université de Lyon , Lyon, France.
Berthet P; Centre François Baclesse , Caen, France.
Julian-Reynier C; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.; Institut Paoli-Calmettes, UMR1252 , Marseille, France.
Mancini J; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.; APHM, Hôpital de la Timone, Service Biostatistique et Technologies de l'Information et de la Communication , Marseille, France.
Noguès C; Aix-Marseille Université, LPS EA 849 , Aix en Provence, France.; Département d'Anticipation et de Suivi des Cancers, Oncogénétique clinique, Institut Paoli-Calmettes , Marseille, France.
Bouhnik AD; Aix Marseille Univ, INSERM, IRD, SESSTIM, Sciences Economiques & Sociales de la Santé & Traitement de l'Information Médicale , Marseille, France.
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Źródło:
Psychology, health & medicine [Psychol Health Med] 2020 Jul; Vol. 25 (6), pp. 756-766. Date of Electronic Publication: 2019 Sep 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Disclosure*
Mutation*
Parents*
Hereditary Breast and Ovarian Cancer Syndrome/*genetics
Adolescent ; Adult ; Adult Children ; Aged ; Child ; Cohort Studies ; Female ; France ; Genes, BRCA1 ; Genes, BRCA2 ; Genetic Testing ; Humans ; Male ; Middle Aged ; Ovariectomy ; Prophylactic Mastectomy ; Prophylactic Surgical Procedures ; Sex Factors ; Young Adult
Czasopismo naukowe
Tytuł:
A Parent-of-Origin Effect Impacts the Phenotype in Low Penetrance Retinoblastoma Families Segregating the c.1981C>T/p.Arg661Trp Mutation of RB1.
Autorzy:
Eloy P; Service de Génétique, Institut Curie, Paris, France.
Dehainault C; Service de Génétique, Institut Curie, Paris, France.
Sefta M; CNRS UMR144, centre de recherche de l'Institut Curie, Paris, France.
Aerts I; Département d'oncologie pédiatrique, adolescents jeunes adultes, Institut Curie, Paris, France.
Doz F; Département d'oncologie pédiatrique, adolescents jeunes adultes, Institut Curie, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Cassoux N; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Département d'oncologie chirurgicale, service d'Ophtalmologie, Institut Curie, Paris, France.
Lumbroso le Rouic L; Département d'oncologie chirurgicale, service d'Ophtalmologie, Institut Curie, Paris, France.
Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; INSERM U830, centre de recherche de l'Institut Curie, Paris, France.
Radvanyi F; CNRS UMR144, centre de recherche de l'Institut Curie, Paris, France.
Millot GA; Institut Curie, PSL Research University, Paris, France.; CNRS UMR 3244, Paris, France.; Sorbonne Universités, UPMC Univ Paris 06, Paris, France.
Gauthier-Villars M; Service de Génétique, Institut Curie, Paris, France.
Houdayer C; Service de Génétique, Institut Curie, Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; INSERM U830, centre de recherche de l'Institut Curie, Paris, France.
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Źródło:
PLoS genetics [PLoS Genet] 2016 Feb 29; Vol. 12 (2), pp. e1005888. Date of Electronic Publication: 2016 Feb 29 (Print Publication: 2016).
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Retinal Neoplasms/*genetics
Retinoblastoma/*genetics
Retinoblastoma Protein/*genetics
CpG Islands ; DNA Methylation ; Female ; Heterozygote ; Humans ; Male ; Mediator Complex/genetics ; Mediator Complex/metabolism ; Pedigree ; Penetrance ; Phenotype ; Retinal Neoplasms/pathology ; Retinoblastoma/pathology ; Retinoblastoma Protein/metabolism
Czasopismo naukowe
Tytuł:
Targeted Sequencing of the Mitochondrial Genome of Women at High Risk of Breast Cancer without Detectable Mutations in BRCA1/2.
Autorzy:
Blein S; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Barjhoux L; 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.
Dondon MG; Inserm, U900, Paris, France; Institut Curie, Paris, France; Mines ParisTech, Fontainebleau, France.
Eon-Marchais S; Inserm, U900, Paris, France; Institut Curie, Paris, France; Mines ParisTech, Fontainebleau, France.
Marcou M; Inserm, U900, Paris, France.
Caron O; Consultation de Génétique, Département de Médecine, Institut de Cancérologie Gustave Roussy, Villejuif, France.
Lortholary A; Centre Catherine de Sienne, Nantes, France.
Buecher B; Institut Curie, Department of Tumour Biology, Paris, France.
Vennin P; Département de Cancérologie sénologique, CLCC Oscar Lambret, Lille, France.
Berthet P; Centre François Baclesse, Caen, France.
Noguès C; Oncogénétique Clinique, Hôpital René Huguenin/Institut Curie, Saint-Cloud, France.
Lasset C; Université Lyon 1, CNRS UMR5558, Lyon, France; Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
Gauthier-Villars M; Consultation de Génétique, Département de Médecine, Institut de Cancérologie Gustave Roussy, Villejuif, France.
Mazoyer S; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Stoppa-Lyonnet D; Consultation de Génétique, Département de Médecine, Institut de Cancérologie Gustave Roussy, Villejuif, France; Institut Curie, INSERM U830, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, France.
Andrieu N; Inserm, U900, Paris, France; Institut Curie, Paris, France; Mines ParisTech, Fontainebleau, France.
Thomas G; Université Lyon 1, INCa-Synergie, Centre Léon Bérard, 28 rue Laennec, Lyon Cedex 08, France.
Sinilnikova OM; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon - Centre Léon Bérard, Lyon, France.
Cox DG; INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
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Corporate Authors:
GENESIS investigators
Źródło:
PloS one [PLoS One] 2015 Sep 25; Vol. 10 (9), pp. e0136192. Date of Electronic Publication: 2015 Sep 25 (Print Publication: 2015).
Typ publikacji:
Clinical Trial; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
MeSH Terms:
BRCA1 Protein*
BRCA2 Protein*
Mutation*
Breast Neoplasms/*genetics
Genome, Mitochondrial/*genetics
Mitochondrial Proton-Translocating ATPases/*genetics
Breast Neoplasms/diagnosis ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Penetrance
Czasopismo naukowe
Tytuł:
Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
Autorzy:
Blanco I; Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Kuchenbaecker K; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Cuadras D; Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Wang X; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America.
Barrowdale D; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
de Garibay GR; Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Librado P; Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain.
Sánchez-Gracia A; Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain.
Rozas J; Department of Genetics and Biodiversity Research Institute (IRBio), University of Barcelona, Barcelona, Catalonia, Spain.
Bonifaci N; Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
McGuffog L; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Pankratz VS; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Islam A; Department of Genetic Engineering and Biotechnology, University of Dhaka, Dhaka, Bangladesh.
Mateo F; Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Berenguer A; Statistics Unit, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Petit A; Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Català I; Department of Pathology, University Hospital of Bellvitge, Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Brunet J; Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Girona Biomedical Research Institute (IDIBGI), Hospital Josep Trueta, Girona, Catalonia, Spain.
Feliubadaló L; Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Tornero E; Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Benítez J; Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain.
Osorio A; Human Genetics Group, Spanish National Cancer Centre (CNIO), and Biomedical Network on Rare Diseases, Madrid, Spain.
Ramón y Cajal T; Oncology Service, Hospital de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain.
Nevanlinna H; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Aittomäki K; Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
Arun BK; Division of Cancer Medicine, University of Texas MD Anderson Cancer Center, Houston, Texas, United States of America.
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.
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.
Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America.
Mai PL; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Maryland, Rockville, United States of America.
Nussbaum RL; Department of Medicine and Genetics, University of California San Francisco, San Francisco, California, United States of America.
Andrulis IL; Samuel Lunenfeld Research Institute, Mount Sinai Hospital, and Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
Domchek SM; Abramson Cancer Center and Department of Medicine, The University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America.
Nathanson KL; 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.
Barkardottir RB; Department of Pathology, Landspitali University Hospital and BMC, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Jakubowska A; 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.
Claes K; Center for Medical Genetics, Ghent University, Ghent, Belgium.
Van Maerken T; Center for Medical Genetics, Ghent University, Ghent, Belgium.
Díez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Research Institute (VHIR) and Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.
Hansen TV; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Jønson L; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Gerdes AM; Department of Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Ejlertsen B; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
de la Hoya M; Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain.
Caldés T; Molecular Oncology Laboratory, Hospital Clínico San Carlos, San Carlos Research Institute (IdISSC), Madrid, Spain.
Dunning AM; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Oliver C; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Fineberg E; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Cook M; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Peock S; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
McCann E; All Wales Medical Genetics Service, Glan Clwyd Hospital, Rhyl, United Kingdom.
Murray A; All Wales Medical Genetics Services, Singleton Hospital, Swansea, United Kingdom.
Jacobs C; Clinical Genetics, Guy's and St. Thomas' National Health Service (NHS) Foundation Trust, London, United Kingdom.
Pichert G; Clinical Genetics, Guy's and St. Thomas' National Health Service (NHS) Foundation Trust, London, United Kingdom.
Lalloo F; Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, Manchester, United Kingdom.
Chu C; Yorkshire Regional Genetics Service, Leeds, United Kingdom.
Dorkins H; North West Thames Regional Genetics Service, Kennedy-Galton Centre, Harrow, United Kingdom.
Paterson J; Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, United Kingdom.
Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare National Health Service (NHS) Trust, Edgbaston, Birmingham, United Kingdom.
Teixeira MR; Department of Genetics, Portuguese Oncology Institute, and Biomedical Sciences Institute (ICBAS), Porto University, Porto, Portugal.
Hogervorst FB; Family Cancer Clinic, Netherlands Cancer Institute (NKI), Amsterdam, The Netherlands.
van der Hout AH; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands.
Seynaeve C; Department of Medical Oncology, 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.
Ligtenberg MJ; Department of Human Genetics and Department of Pathology, Radboud university medical center, Nijmegen, The Netherlands.
Devilee P; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; Department of Pathology, Leiden University Medical Center, Leiden, The Netherlands.
Wijnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Rookus MA; Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands.
Meijers-Heijboer HE; Department of Clinical Genetics, Vrije Universiteit (VU) University Medical Centre, Amsterdam, The Netherlands.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
van den Ouweland AM; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands.
Aalfs CM; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Rodriguez GC; Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, Chicago, Illinois, United States of America.
Phillips KA; Division of Cancer Medicine, Peter MacCallum Cancer Centre, East Melbourne, Victoria, Australia.
Piedmonte M; Gynecologic Oncology Group Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, New York, United States of America.
Nerenstone SR; Central Connecticut Cancer Consortium, Hartford Hospital/Helen and Harry Gray Cancer Center, Hartford, Connecticut, United States of America.
Bae-Jump VL; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, University of North Carolina, Chapel Hill, North Carolina, United States of America.
O'Malley DM; Division of Gynecologic Oncology, Ohio State University, Columbus Cancer Council, Hilliard, Ohio, United States of America.
Ratner ES; Division of Gynecologic Oncology, Yale University School of Medicine, New Haven, Connecticut, 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 Gynecology and Obstetrics, Division of Tumor Genetics, Klinikum Rechts der Isar, Technical University Munich, Munich, Germany.
Ditsch N; Department of Gynecology and Obstetrics, Ludwig-Maximilian University Munich, Munich, Germany.
Arnold N; Department of Gynecology and Obstetrics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany.
Plendl HJ; Institute of Human Genetics, Christian-Albrechts-University of Kiel University Medical Center Schleswig-Holstein, Kiel, Germany.
Niederacher D; Department of Gynecology 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 Gynecology 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 Gynecology 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.
Bojesen A; Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark.
Pedersen IS; Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Aalborg, Denmark.
Sunde L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Jensen UB; 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.
Foretova L; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Brno, Czech Republic.
Peterlongo P; Fondazione Istituto di Oncologia Molecolare (IFOM), Fondazione Italiana per la Ricerca sul Cancro (FIRC), Milan, Italy.
Bernard L; Department of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Cogentech Cancer Genetic Test Laboratory, Milan, Italy.
Peissel B; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy.
Scuvera G; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy.
Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy.
Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Fondazione Istituto Nazionale Tumori (INT), Milan, Italy.
Ottini L; Department of Molecular Medicine, 'Sapienza' University, Rome, Italy.
Montagna M; Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy.
Agata S; Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto (IOV), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Padua, Italy.
Maugard C; Laboratoire de Diagnostic Génétique et Service d'Onco-Hématologie, Hopitaux Universitaire de Strasbourg, Centre Hospitalier Régional Universitaire (CHRU) Nouvel Hôpital Civil, Strasbourg, France.
Simard J; Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada.
Soucy P; Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Canada.
Berger A; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Fink-Retter A; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Singer CF; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Rappaport C; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Geschwantler-Kaulich D; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Tea MK; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
Pfeiler G; Department of Gynecology and Obstetrics, and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria.
John EM; Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, United States of America.
Miron A; Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America.
Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, California, United States of America.
Terry MB; Department of Epidemiology, Columbia University, New York, New York, United States of America.
Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, United States of America.
Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, United States of America.
Goldgar DE; Department of Dermatology, 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, State Research Centre Institute for Innovative medicine, Vilnius, Lithuania.
Dorfling CM; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa.
van Rensburg EJ; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Arcadia, South Africa.
Fostira F; Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece.
Konstantopoulou I; Molecular Diagnostics Laboratory, Institute of Radioisotopes and Radiodiagnostic Products (IRRP), National Centre for Scientific Research Demokritos, Athens, Greece.
Garber J; Center for Cancer Genetics and Prevention, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, United States of America.
Godwin AK; Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, Kansas City, Kansas, United States of America.
Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Narod SA; Women's College Research Institute, University of Toronto, Toronto, Canada.
Rennert G; Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B Rappaport Faculty of Medicine, Haifa, Israel.
Paluch SS; The Institute of Oncology, Chaim Sheba Medical Center, Ramat Gan, Israel.
Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel.
Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, Ramat Gan, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Liljegren A; Department of Oncology, Karolinska University Hospital, Stockholm, Sweden.
Rantala J; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Stenmark-Askmalm M; Division of Clinical Genetics, Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden.
Loman N; Department of Oncology, Lund University Hospital, Lund, Sweden.
Imyanitov EN; N.N. Petrov Institute of Oncology, St.-Petersburg, Russia.
Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Spurdle AB; Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia.
Healey S; Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia.
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.
Margileth D; St. Joseph Hospital of Orange, Care of City of Hope Clinical Cancer Genetics Community Research Network, Duarte, California, United States of America.
Gorrini C; The Campbell Family Institute for Breast Cancer Research, Ontario Cancer Institute, University Health Network, Toronto, Canada.
Esteller M; Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L'Hospitalet del Llobregat, Catalonia, Spain; Department of Physiological Sciences II, School of Medicine, University of Barcelona, L'Hospitalet del Llobregat, Catalonia, Spain; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain.
Gómez A; Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L'Hospitalet del Llobregat, Catalonia, Spain.
Sayols S; Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L'Hospitalet del Llobregat, Catalonia, Spain.
Vidal E; Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L'Hospitalet del Llobregat, Catalonia, Spain.
Heyn H; Cancer Epigenetics and Biology Program (PEBC), IDIBELL, L'Hospitalet del Llobregat, Catalonia, Spain.
Stoppa-Lyonnet D; Department of Tumour Biology, Institut Curie, Paris, France; Institut National de la Santé et de la Recherche Médicale (INSERM) U830, Institut Curie, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Léoné M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon-Centre Léon Bérard, Lyon, France.
Barjhoux L; Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Fassy-Colcombet M; Department of Tumour Biology, Institut Curie, Paris, France.
de Pauw A; Department of Tumour Biology, Institut Curie, Paris, France.
Lasset C; Université Lyon 1, Centre National de la Recherche Scientifique (CNRS) UMR5558, and Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France.
Ferrer SF; Laboratoire de Génétique Chromosomique, Hôtel Dieu Centre Hospitalier, Chambéry, France.
Castera L; Department of Tumour Biology, Institut Curie, Paris, France.
Berthet P; Centre François Baclesse, Caen, France.
Cornelis F; Genetic Unit, Avicenne Hospital, Assitance Publique-Hôpitaux de Paris, Paris, Sud-Francilien Hospital, Evry-Corbeil, and University Hospital, Clermont-Ferrand, France.
Bignon YJ; Département d'Oncogénétique, Centre Jean Perrin, Université de Clermont-Ferrand, Clermont-Ferrand, France.
Damiola F; Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Mazoyer S; Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Sinilnikova OM; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon-Centre Léon Bérard, Lyon, France; Institut National de la Santé et de la Recherche Médicale (INSERM) U1052, Centre National de la Recherche Scientifique (CNRS) UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.
Maxwell CA; Department of Pediatrics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada.
Vijai J; Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Robson M; Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Kauff N; Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Corines MJ; Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Villano D; Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Cunningham J; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Lee A; Department of Oncology, Mayo Clinic, Rochester, Minnesota, United States of America.
Lindor N; Center for Individualized Medicine, Mayo Clinic, Scottsdale, Arizona, United States of America.
Lázaro C; Hereditary Cancer Program, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Easton DF; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Offit K; Clinical Genetics Research Laboratory, Memorial Sloan-Kettering Cancer Center, New York, New York, United States of America.
Chenevix-Trench G; Queensland Institute of Medical Research (QIMR) Berghofer Medical Research Institute, Brisbane, Australia.
Couch FJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, United States of America; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.
Antoniou AC; Epidemiological Study of Familial Breast Cancer (EMBRACE), Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.
Pujana MA; Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.
Pokaż więcej
Corporate Authors:
Teixeira
BCFR
SWE-BRCA
kConFab Investigators
GEMO
Źródło:
PloS one [PLoS One] 2015 Apr 01; Vol. 10 (4), pp. e0120020. Date of Electronic Publication: 2015 Apr 01 (Print Publication: 2015).
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:
Genes, BRCA1*
Genes, BRCA2*
Mutation*
Breast Neoplasms/*genetics
Genetic Predisposition to Disease/*genetics
Aurora Kinase A/genetics ; Breast Neoplasms/enzymology ; Breast Neoplasms/pathology ; Carcinogenesis/genetics ; Cell Cycle Proteins/genetics ; Estrogen Receptor alpha/metabolism ; Evolution, Molecular ; Extracellular Matrix Proteins/genetics ; Female ; Genetic Loci/genetics ; Humans ; Hyaluronan Receptors/genetics ; Likelihood Functions ; Mammary Glands, Human/metabolism ; Microtubule-Associated Proteins/genetics ; Nuclear Proteins/genetics ; Polymorphism, Single Nucleotide ; Retrospective Studies ; Tubulin/genetics
Czasopismo naukowe
Tytuł:
On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.
Autorzy:
Hamel N; Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, Quebec, Canada.
Feng BJ
Foretova L
Stoppa-Lyonnet D
Narod SA
Imyanitov E
Sinilnikova O
Tihomirova L
Lubinski J
Gronwald J
Gorski B
Hansen Tv
Nielsen FC
Thomassen M
Yannoukakos D
Konstantopoulou I
Zajac V
Ciernikova S
Couch FJ
Greenwood CM
Goldgar DE
Foulkes WD
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2011 Mar; Vol. 19 (3), pp. 300-6. Date of Electronic Publication: 2010 Dec 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Mutation*
White People/*genetics
Brazil/epidemiology ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Ethnicity/genetics ; Europe/epidemiology ; Female ; Founder Effect ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Testing ; Genotype ; Haplotypes ; Humans ; Jews ; Microsatellite Repeats ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics
Czasopismo naukowe
Tytuł:
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.
Autorzy:
Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Wang X
Fredericksen ZS
McGuffog L
Tarrell R
Sinilnikova OM
Healey S
Morrison J
Kartsonaki C
Lesnick T
Ghoussaini M
Barrowdale D
Peock S
Cook M
Oliver C
Frost D
Eccles D
Evans DG
Eeles R
Izatt L
Chu C
Douglas F
Paterson J
Stoppa-Lyonnet D
Houdayer C
Mazoyer S
Giraud S
Lasset C
Remenieras A
Caron O
Hardouin A
Berthet P
Hogervorst FB
Rookus MA
Jager A
van den Ouweland A
Hoogerbrugge N
van der Luijt RB
Meijers-Heijboer H
Gómez García EB
Devilee P
Vreeswijk MP
Lubinski J
Jakubowska A
Gronwald J
Huzarski T
Byrski T
Górski B
Cybulski C
Spurdle AB
Holland H
Goldgar DE
John EM
Hopper JL
Southey M
Buys SS
Daly MB
Terry MB
Schmutzler RK
Wappenschmidt B
Engel C
Meindl A
Preisler-Adams S
Arnold N
Niederacher D
Sutter C
Domchek SM
Nathanson KL
Rebbeck T
Blum JL
Piedmonte M
Rodriguez GC
Wakeley K
Boggess JF
Basil J
Blank SV
Friedman E
Kaufman B
Laitman Y
Milgrom R
Andrulis IL
Glendon G
Ozcelik H
Kirchhoff T
Vijai J
Gaudet MM
Altshuler D
Guiducci C
Loman N
Harbst K
Rantala J
Ehrencrona H
Gerdes AM
Thomassen M
Sunde L
Peterlongo P
Manoukian S
Bonanni B
Viel A
Radice P
Caldes T
de la Hoya M
Singer CF
Fink-Retter A
Greene MH
Mai PL
Loud JT
Guidugli L
Lindor NM
Hansen TV
Nielsen FC
Blanco I
Lazaro C
Garber J
Ramus SJ
Gayther SA
Phelan C
Narod S
Szabo CI
Benitez J
Osorio A
Nevanlinna H
Heikkinen T
Caligo MA
Beattie MS
Hamann U
Godwin AK
Montagna M
Casella C
Neuhausen SL
Karlan BY
Tung N
Toland AE
Weitzel J
Olopade O
Simard J
Soucy P
Rubinstein WS
Arason A
Rennert G
Martin NG
Montgomery GW
Chang-Claude J
Flesch-Janys D
Brauch H
Severi G
Baglietto L
Cox A
Cross SS
Miron P
Gerty SM
Tapper W
Yannoukakos D
Fountzilas G
Fasching PA
Beckmann MW
Dos Santos Silva I
Peto J
Lambrechts D
Paridaens R
Rüdiger T
Försti A
Winqvist R
Pylkäs K
Diasio RB
Lee AM
Eckel-Passow J
Vachon C
Blows F
Driver K
Dunning A
Pharoah PP
Offit K
Pankratz VS
Hakonarson H
Chenevix-Trench G
Easton DF
Couch FJ
Pokaż więcej
Corporate Authors:
EMBRACE
GEMO Study Collaborators
HEBON
kConFab
SWE-BRCA
MOD SQUAD
GENICA
Źródło:
Nature genetics [Nat Genet] 2010 Oct; Vol. 42 (10), pp. 885-92. Date of Electronic Publication: 2010 Sep 19.
Typ publikacji:
Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
BRCA1 Protein/*genetics
Breast Neoplasms/*genetics
Chromosomes, Human, Pair 19/*genetics
Mutation/*genetics
Receptor, ErbB-2/*genetics
Receptors, Estrogen/*genetics
Receptors, Progesterone/*genetics
Adult ; Breast Neoplasms/pathology ; Case-Control Studies ; Female ; Genotype ; Humans ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Tytuł:
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
Autorzy:
Osorio A; Human Genetics Group, Spanish National Cancer Research Centre, C/Melchor Fernández Almagro 3, 28029 Madrid, Spain. />Milne RL
Pita G
Peterlongo P
Heikkinen T
Simard J
Chenevix-Trench G
Spurdle AB
Beesley J
Chen X
Healey S
Neuhausen SL
Ding YC
Couch FJ
Wang X
Lindor N
Manoukian S
Barile M
Viel A
Tizzoni L
Szabo CI
Foretova L
Zikan M
Claes K
Greene MH
Mai P
Rennert G
Lejbkowicz F
Barnett-Griness O
Andrulis IL
Ozcelik H
Weerasooriya N
Gerdes AM
Thomassen M
Cruger DG
Caligo MA
Friedman E
Kaufman B
Laitman Y
Cohen S
Kontorovich T
Gershoni-Baruch R
Dagan E
Jernström H
Askmalm MS
Arver B
Malmer B
Domchek SM
Nathanson KL
Brunet J
Ramón Y Cajal T
Yannoukakos D
Hamann U
Hogervorst FB
Verhoef S
Gómez García EB
Wijnen JT
van den Ouweland A
Easton DF
Peock S
Cook M
Oliver CT
Frost D
Luccarini C
Evans DG
Lalloo F
Eeles R
Pichert G
Cook J
Hodgson S
Morrison PJ
Douglas F
Godwin AK
Sinilnikova OM
Barjhoux L
Stoppa-Lyonnet D
Moncoutier V
Giraud S
Cassini C
Olivier-Faivre L
Révillion F
Peyrat JP
Muller D
Fricker JP
Lynch HT
John EM
Buys S
Daly M
Hopper JL
Terry MB
Miron A
Yassin Y
Goldgar D
Singer CF
Gschwantler-Kaulich D
Pfeiler G
Spiess AC
Hansen TV
Johannsson OT
Kirchhoff T
Offit K
Kosarin K
Piedmonte M
Rodriguez GC
Wakeley K
Boggess JF
Basil J
Schwartz PE
Blank SV
Toland AE
Montagna M
Casella C
Imyanitov EN
Allavena A
Schmutzler RK
Versmold B
Engel C
Meindl A
Ditsch N
Arnold N
Niederacher D
Deissler H
Fiebig B
Varon-Mateeva R
Schaefer D
Froster UG
Caldes T
de la Hoya M
McGuffog L
Antoniou AC
Nevanlinna H
Radice P
Benítez J
Pokaż więcej
Corporate Authors:
KConFab
OCGN
SWE-BRCA
HEBON
EMBRACE
GEMO
Breast Cancer Family Registry
CMBA
Źródło:
British journal of cancer [Br J Cancer] 2009 Dec 15; Vol. 101 (12), pp. 2048-54. Date of Electronic Publication: 2009 Nov 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Heterozygote*
Mutation*
Polymorphism, Single Nucleotide*
DNA-Binding Proteins/*genetics
Cohort Studies ; Female ; Humans ; Retrospective Studies
Czasopismo naukowe
Tytuł:
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.
Autorzy:
Sinilnikova OM; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, Centre Léon Bérard, Lyon 69373, France. />Antoniou AC
Simard J
Healey S
Léoné M
Sinnett D
Spurdle AB
Beesley J
Chen X
Greene MH
Loud JT
Lejbkowicz F
Rennert G
Dishon S
Andrulis IL
Domchek SM
Nathanson KL
Manoukian S
Radice P
Konstantopoulou I
Blanco I
Laborde AL
Durán M
Osorio A
Benitez J
Hamann U
Hogervorst FB
van Os TA
Gille HJ
Peock S
Cook M
Luccarini C
Evans DG
Lalloo F
Eeles R
Pichert G
Davidson R
Cole T
Cook J
Paterson J
Brewer C
Hughes DJ
Coupier I
Giraud S
Coulet F
Colas C
Soubrier F
Rouleau E
Bièche I
Lidereau R
Demange L
Nogues C
Lynch HT
Schmutzler RK
Versmold B
Engel C
Meindl A
Arnold N
Sutter C
Deissler H
Schaefer D
Froster UG
Aittomäki K
Nevanlinna H
McGuffog L
Easton DF
Chenevix-Trench G
Stoppa-Lyonnet D
Pokaż więcej
Corporate Authors:
kConFab
OCGN
HEBON
EMBRACE
GEMO
GC-HBOC
Consortium of Investigators of Modifiers of BRCA1/2
Źródło:
British journal of cancer [Br J Cancer] 2009 Oct 20; Vol. 101 (8), pp. 1456-60. Date of Electronic Publication: 2009 Aug 25.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA1*
Genes, BRCA2*
Genes, p53*
Genetic Predisposition to Disease*
Mutation*
Polymorphism, Single Nucleotide*
Breast Neoplasms/*genetics
Proto-Oncogene Proteins c-mdm2/*genetics
Breast Neoplasms/etiology ; Female ; Heterozygote ; Humans ; Risk Factors
Czasopismo naukowe
Tytuł:
Rapid progression of prostate cancer in men with a BRCA2 mutation.
Autorzy:
Narod SA; Women's College Research Institute, 790 Bay Street, 7th Floor, Women's College Hospital, University of Toronto, Toronto, Ontario, Canada. />Neuhausen S
Vichodez G
Armel S
Lynch HT
Ghadirian P
Cummings S
Olopade O
Stoppa-Lyonnet D
Couch F
Wagner T
Warner E
Foulkes WD
Saal H
Weitzel J
Tulman A
Poll A
Nam R
Sun P
Danquah J
Domchek S
Tung N
Ainsworth P
Horsman D
Kim-Sing C
Maugard C
Eisen A
Daly M
McKinnon W
Wood M
Isaacs C
Gilchrist D
Karlan B
Nedelcu R
Meschino W
Garber J
Pasini B
Manoukian S
Bellati C
Pokaż więcej
Corporate Authors:
Hereditary Breast Cancer Study Group
Źródło:
British journal of cancer [Br J Cancer] 2008 Jul 22; Vol. 99 (2), pp. 371-4. Date of Electronic Publication: 2008 Jun 24.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Genes, BRCA2*
Mutation*
Prostatic Neoplasms/*genetics
Adult ; Aged ; Aged, 80 and over ; Disease Progression ; Genes, BRCA1 ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Male ; Middle Aged ; Prostatic Neoplasms/pathology
Czasopismo naukowe
Tytuł:
BRCA2 mutation screening is clinically relevant in breast and early prostate cancer families.
Autorzy:
Azzouzi AR; Service d'Urologie, CHU d'Angers, Angers, France. />Stoppa-Lyonnet D
Roupret M
Larre S
Mangin P
Cussenot O
Pokaż więcej
Źródło:
International journal of urology : official journal of the Japanese Urological Association [Int J Urol] 2007 May; Vol. 14 (5), pp. 445-6.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation*
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Prostatic Neoplasms/*genetics
Humans ; Male ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł:
A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation.
Autorzy:
Dehainault C; Service de Génétique Oncologique, Institut Curie, Paris, France.
Michaux D
Pagès-Berhouet S
Caux-Moncoutier V
Doz F
Desjardins L
Couturier J
Parent P
Stoppa-Lyonnet D
Gauthier-Villars M
Houdayer C
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2007 Apr; Vol. 15 (4), pp. 473-7. Date of Electronic Publication: 2007 Feb 14.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Exons*
Genes, Retinoblastoma*
Mutagenesis, Insertional*
Introns/*genetics
Mutation/*genetics
Retinoblastoma/*genetics
Retinoblastoma Protein/*genetics
Amino Acid Sequence ; Child, Preschool ; DNA Mutational Analysis ; DNA, Complementary/genetics ; Humans ; Male ; Molecular Sequence Data ; Polymorphism, Genetic ; RNA Splice Sites/genetics ; RNA Splicing ; Retinal Neoplasms/genetics
Czasopismo naukowe
Tytuł:
Testing for BRCA1 mutations: a cost-effectiveness analysis.
Autorzy:
Sevilla C; INSERM U379, Paoli-Calmettes Institute, Marseilles, France.
Moatti JP
Julian-Reynier C
Eisinger F
Stoppa-Lyonnet D
Bressac-de Paillerets B
Sobol H
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2002 Oct; Vol. 10 (10), pp. 599-606.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Cost-Benefit Analysis*
Genes, BRCA1*
Genetic Testing*
Mutation*
Female ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł:
A single mutated BRCA1 allele leads to impaired fidelity of double strand break end-joining.
Autorzy:
Baldeyron C; UMR 218 du CNRS, Institut Curie, Section de Recherche, Paris 75248, cedex05, France.
Jacquemin E
Smith J
Jacquemont C
De Oliveira I
Gad S
Feunteun J
Stoppa-Lyonnet D
Papadopoulo D
Pokaż więcej
Źródło:
Oncogene [Oncogene] 2002 Feb 21; Vol. 21 (9), pp. 1401-10.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Alleles*
Genes, BRCA1*
DNA Repair/*genetics
Mutation/*genetics
Blotting, Western ; Cell Extracts/pharmacology ; DNA/chemistry ; DNA/genetics ; DNA/metabolism ; DNA Repair/drug effects ; Heterozygote ; Humans ; Plasmids/genetics ; Tumor Cells, Cultured
Czasopismo naukowe
Tytuł:
p53 mutations in BRCA1-associated familial breast cancer.
Autorzy:
Schlichtholz B
Bouchind'homme B
Pagés S
Martin E
Liva S
Magdelenat H
Sastre-Garau X
Stoppa-Lyonnet D
Soussi T
Pokaż więcej
Źródło:
Lancet (London, England) [Lancet] 1998 Aug 22; Vol. 352 (9128), pp. 622.
Typ publikacji:
Comment; Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation*
Breast Neoplasms/*genetics
Genes, BRCA1/*genetics
Genes, p53/*genetics
DNA, Neoplasm/genetics ; Female ; Humans ; Ovarian Neoplasms/genetics
Raport

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