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Tytuł:
Causality and functional relevance of BRCA1 and BRCA2 pathogenic variants in non‐high‐grade serous ovarian carcinomas.
Autorzy:
Kramer, CJH
Lanjouw, L
Ruano, D
ter Elst, A
Santandrea, G
Solleveld‐Westerink, N
Werner, N
van der Hout, AH
de Kroon, CD
van Wezel, T
Berger, LPV
Jalving, M
Wesseling, J
Smit, VTHBM
de Bock, GH
van Asperen, CJ
Mourits, MJE
Vreeswijk, MPG
Bart, J
Bosse, T
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Temat:
OVARIAN epithelial cancer
HOMOLOGOUS recombination
BRCA genes
PATIENT selection
CARCINOMA
Źródło:
Journal of Pathology; Feb2024, Vol. 262 Issue 2, p137-146, 10p
Przedsiębiorstwo/ jednostka:
JOHN Wiley & Sons Inc.
Czasopismo naukowe
Szczegóły
Tytuł:
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
Autorzy:
Chau C; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
van Doorn R; Department of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
van Poppelen NM; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.; Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van der Stoep N; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Mensenkamp AR; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Sijmons RH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
van Paassen BW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van den Ouweland AMW; Department of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
Naus NC; Department of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
van der Hout AH; Department of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The Netherlands.
Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Bleeker FE; Department of Clinical Genetics, Netherlands Cancer Institute, 1066 CX Amsterdam, The Netherlands.
Wevers MR; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
van Hest LP; Department of Clinical Genetics, Amsterdam University Medical Centers, 1081 HV Amsterdam, The Netherlands.
Jongmans MCJ; Department of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Department of Clinical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Marinkovic M; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Bleeker JC; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Jager MJ; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Luyten GPM; Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.
Nielsen M; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands. .
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Źródło:
Cancers [Cancers (Basel)] 2019 Aug 04; Vol. 11 (8). Date of Electronic Publication: 2019 Aug 04.
Typ publikacji:
Journal Article
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Somatic genomic alterations in retinoblastoma beyond RB1 are rare and limited to copy number changes.
Autorzy:
Kooi IE; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
Mol BM; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
Massink MP; Department of Medical Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Universiteitsweg 100, 3508 AB, Utrecht, The Netherlands.
Ameziane N; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
Meijers-Heijboer H; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
Dommering CJ; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
van Mil SE; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
de Vries Y; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
van der Hout AH; Department of Genetics, University Medical Centre Groningen, University of Groningen, 9700 RB, Groningen, The Netherlands.
Kaspers GJ; Department of Pediatric Oncology/Hematology, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Moll AC; Department of Ophthalmology, VU University Medical Center, de Boelelaan 1117, 1007 MB, Amsterdam, The Netherlands.
Te Riele H; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.; Division of Biological Stress Response, Netherlands Cancer Institute, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands.
Cloos J; Department of Pediatric Oncology/Hematology, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.; Department of Hematology, VU University Medical Center, de Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Dorsman JC; Department of Clinical Genetics, VU University Medical Center, Van der Boechorststraat 7, 1081BT, Amsterdam, The Netherlands.
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Źródło:
Scientific reports [Sci Rep] 2016 Apr 29; Vol. 6, pp. 25264. Date of Electronic Publication: 2016 Apr 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Dosage*
Mutation*
Retinoblastoma/*pathology
Retinoblastoma Binding Proteins/*genetics
Ubiquitin-Protein Ligases/*genetics
Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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.
Pokaż więcej
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
Autorzy:
Gaudet MM; Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA.
Kuchenbaecker KB
Vijai J
Klein RJ
Kirchhoff T
McGuffog L
Barrowdale D
Dunning AM
Lee A
Dennis J
Healey S
Dicks E
Soucy P
Sinilnikova OM
Pankratz VS
Wang X
Eldridge RC
Tessier DC
Vincent D
Bacot F
Hogervorst FB
Peock S
Stoppa-Lyonnet D
Peterlongo P
Schmutzler RK
Nathanson KL
Piedmonte M
Singer CF
Thomassen M
Hansen Tv
Neuhausen SL
Blanco I
Greene MH
Garber J
Weitzel JN
Andrulis IL
Goldgar DE
D'Andrea E
Caldes T
Nevanlinna H
Osorio A
van Rensburg EJ
Arason A
Rennert G
van den Ouweland AM
van der Hout AH
Kets CM
Aalfs CM
Wijnen JT
Ausems MG
Frost D
Ellis S
Fineberg E
Platte R
Evans DG
Jacobs C
Adlard J
Tischkowitz M
Porteous ME
Damiola F
Golmard L
Barjhoux L
Longy M
Belotti M
Ferrer SF
Mazoyer S
Spurdle AB
Manoukian S
Barile M
Genuardi M
Arnold N
Meindl A
Sutter C
Wappenschmidt B
Domchek SM
Pfeiler G
Friedman E
Jensen UB
Robson M
Shah S
Lazaro C
Mai PL
Benitez J
Southey MC
Schmidt MK
Fasching PA
Peto J
Humphreys MK
Wang Q
Michailidou K
Sawyer EJ
Burwinkel B
Guénel P
Bojesen SE
Milne RL
Brenner H
Lochmann M
Aittomäki K
Dörk T
Margolin S
Mannermaa A
Lambrechts D
Chang-Claude J
Radice P
Giles GG
Haiman CA
Winqvist R
Devillee P
García-Closas M
Schoof N
Hooning MJ
Cox A
Pharoah PD
Jakubowska A
Orr N
González-Neira A
Pita G
Alonso MR
Hall P
Couch FJ
Simard J
Altshuler D
Easton DF
Chenevix-Trench G
Antoniou AC
Offit K
Pokaż więcej
Corporate Authors:
KConFab Investigators
Ontario Cancer Genetics Network
HEBON
EMBRACE
GEMO Study Collaborators
GENICA Network
Źródło:
PLoS genetics [PLoS Genet] 2013; Vol. 9 (3), pp. e1003173. 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*
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Chromosomes, Human, Pair 6/*genetics
Adult ; Aged ; Alleles ; BRCA1 Protein/genetics ; Breast Neoplasms/pathology ; Female ; Genetic Predisposition to Disease ; Genotype ; Heterozygote ; Humans ; Middle Aged ; Mutation ; Polymorphism, Single Nucleotide ; Risk Factors
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy.
Autorzy:
Helderman-van den Enden AT; Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. />Madan K
Breuning MH
van der Hout AH
Bakker E
de Die-Smulders CE
Ginjaar HB
Pokaż więcej
Źródło:
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jan; Vol. 21 (1), pp. 21-6. Date of Electronic Publication: 2012 Jun 06.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Counseling/*statistics & numerical data
Muscular Dystrophy, Duchenne/*diagnosis
Muscular Dystrophy, Duchenne/*epidemiology
Muscular Dystrophy, Duchenne/*genetics
Prenatal Diagnosis/*statistics & numerical data
Dystrophin/genetics ; Female ; Heterozygote ; Humans ; Incidence ; Infant, Newborn ; Male ; Mutation ; Neonatal Screening ; Netherlands ; Pedigree ; Pregnancy ; Preimplantation Diagnosis
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.
Autorzy:
Mohammadi L; Department of Medical Statistics and Bioinformatics, Leiden University Medical Center, Leiden, The Netherlands. />Vreeswijk MP
Oldenburg R
van den Ouweland A
Oosterwijk JC
van der Hout AH
Hoogerbrugge N
Ligtenberg M
Ausems MG
van der Luijt RB
Dommering CJ
Gille JJ
Verhoef S
Hogervorst FB
van Os TA
Gómez García E
Blok MJ
Wijnen JT
Helmer Q
Devilee P
van Asperen CJ
van Houwelingen HC
Pokaż więcej
Źródło:
BMC cancer [BMC Cancer] 2009 Jun 29; Vol. 9, pp. 211. Date of Electronic Publication: 2009 Jun 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Gene Expression Regulation, Neoplastic*
Genes, BRCA1*
Genes, BRCA2*
Breast Neoplasms/*genetics
Gene Expression Profiling/*methods
Ovarian Neoplasms/*genetics
Algorithms ; Family Health ; Female ; Genetic Variation ; Humans ; Likelihood Functions ; Models, Statistical ; Pedigree ; Phenotype
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Wyświetlanie 1-20 z 24

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