caa a22 4500 445861096 CHVBK 20180317145443.0 cr unu---uuuuu 170323e20111101xx s 000 0 eng 10.1007/s00439-011-1003-z doi (NATIONALLICENCE)springer-10.1007/s00439-011-1003-z Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers [Elektronische Daten] [Kate Im, Tomas Kirchhoff, Xianshu Wang, Todd Green, Clement Chow, Joseph Vijai, Joshua Korn, Mia Gaudet, Zachary Fredericksen, V. Shane Pankratz, Candace Guiducci, Andrew Crenshaw, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga Sinilnikova, Phuong Mai, Mark Greene, Marion Piedmonte, Wendy Rubinstein, Frans Hogervorst, Matti Rookus, J. Collée, Nicoline Hoogerbrugge, Christi van Asperen, Hanne Meijers-Heijboer, Cees Van Roozendaal, Trinidad Caldes, Pedro Perez-Segura, Anna Jakubowska, Jan Lubinski, Tomasz Huzarski, Paweł Blecharz, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Rosa Barkardottir, Marco Montagna, Emma D'Andrea, Peter Devilee, Olufunmilayo Olopade, Susan Neuhausen, Bernard Peissel, Bernardo Bonanni, Paolo Peterlongo, Christian Singer, Gad Rennert, Flavio Lejbkowicz, Irene Andrulis, Gord Glendon, Hilmi Ozcelik, Amanda Toland, Maria Caligo, Mary Beattie, Salina Chan, Susan Domchek, Katherine Nathanson, Timothy Rebbeck, Catherine Phelan, Steven Narod, Esther John, John Hopper, Saundra Buys, Mary Daly, Melissa Southey, Mary-Beth Terry, Nadine Tung, Thomas Hansen, Ana Osorio, Javier Benitez, Mercedes Durán, Jeffrey Weitzel, Judy Garber, Ute Hamann, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Radka Platte, D. Evans, Ros Eeles, Louise Izatt, Joan Paterson, Carole Brewer, Shirley Hodgson, Patrick Morrison, Mary Porteous, Lisa Walker, Mark Rogers, Lucy Side, Andrew Godwin, Rita Schmutzler, Barbara Wappenschmidt, Yael Laitman, Alfons Meindl, Helmut Deissler, Raymonda Varon-Mateeva, Sabine Preisler-Adams, Karin Kast, Laurence Venat-Bouvet, Dominique Stoppa-Lyonnet, Georgia Chenevix-Trench, Douglas Easton, Robert Klein, Mark Daly, Eitan Friedman, Michael Dean, Andrew Clark, David Altshuler, Antonis Antoniou, Fergus Couch, Kenneth Offit, Bert Gold] Three founder mutations in BRCA1 and BRCA2 contribute to the risk of hereditary breast and ovarian cancer in Ashkenazi Jews (AJ). They are observed at increased frequency in the AJ compared to other BRCA mutations in Caucasian non-Jews (CNJ). Several authors have proposed that elevated allele frequencies in the surrounding genomic regions reflect adaptive or balancing selection. Such proposals predict long-range linkage disequilibrium (LD) resulting from a selective sweep, although genetic drift in a founder population may also act to create long-distance LD. To date, few studies have used the tools of statistical genomics to examine the likelihood of long-range LD at a deleterious locus in a population that faced a genetic bottleneck. We studied the genotypes of hundreds of women from a large international consortium of BRCA1 and BRCA2 mutation carriers and found that AJ women exhibited long-range haplotypes compared to CNJ women. More than 50% of the AJ chromosomes with the BRCA1 185delAG mutation share an identical 2.1Mb haplotype and nearly 16% of AJ chromosomes carrying the BRCA2 6174delT mutation share a 1.4Mb haplotype. Simulations based on the best inference of Ashkenazi population demography indicate that long-range haplotypes are expected in the context of a genome-wide survey. Our results are consistent with the hypothesis that a local bottleneck effect from population size constriction events could by chance have resulted in the large haplotype blocks observed at high frequency in the BRCA1 and BRCA2 regions of Ashkenazi Jews. Springer-Verlag (outside the USA), 2011 Im Kate Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA aut Kirchhoff Tomas Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut Wang Xianshu Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut Green Todd Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut Chow Clement Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA aut Vijai Joseph Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut Korn Joshua Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut Gaudet Mia Epidemiology Research Program, American Cancer Society, Atlanta, GA, USA aut Fredericksen Zachary Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut Shane Pankratz V. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut Guiducci Candace Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut Crenshaw Andrew Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut McGuffog Lesley Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Kartsonaki Christiana Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Morrison Jonathan Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Healey Sue Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia aut Sinilnikova Olga Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France aut Mai Phuong Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA aut Greene Mark Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA aut Piedmonte Marion GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, NY, USA aut Rubinstein Wendy NorthShore University Health System, Evanston, IL, USA aut Hogervorst Frans Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands aut Rookus Matti Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands aut Collée J. Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands aut Hoogerbrugge Nicoline Hereditary Cancer Clinic, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands aut van Asperen Christi Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands aut Meijers-Heijboer Hanne Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands aut Van Roozendaal Cees Department of Clinical Genetics, University Medical Center, Maastricht, The Netherlands aut Caldes Trinidad Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain aut Perez-Segura Pedro Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain aut Jakubowska Anna International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut Lubinski Jan International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut Huzarski Tomasz International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut Blecharz Paweł Center of Oncology, Maria Sklodowska-Curie Memorial Institute, Kraków, Poland aut Nevanlinna Heli Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland aut Aittomäki Kristiina Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland aut Lazaro Conxi Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain aut Blanco Ignacio Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain aut Barkardottir Rosa Department of Pathology, Landspitali-LSH, Reykjavik, Iceland aut Montagna Marco Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS, Padua, Italy aut D'Andrea Emma Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS, Padua, Italy aut Devilee Peter Department of Human Genetics and Pathology, Leiden University Medical Center, Leiden, The Netherlands aut Olopade Olufunmilayo Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago Medical Center, Chicago, IL, USA aut Neuhausen Susan Department of Population Sciences, The Beckman Research Institute of the City of Hope, Duarte, CA, USA aut Peissel Bernard Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy aut Bonanni Bernardo Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy aut Peterlongo Paolo Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy aut Singer Christian Department of Obstetrics and Gynecology, University of Vienna, Vienna, Austria aut Rennert Gad CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel aut Lejbkowicz Flavio CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel aut Andrulis Irene Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada aut Glendon Gord Cancer Care Ontario, University of Toronto, Toronto, ON, Canada aut Ozcelik Hilmi Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada aut Toland Amanda Department of Molecular Virology Immunology, and Medical Genetics and Internal Medicine, The Ohio State University, Columbus, OH, USA aut Caligo Maria Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and Santa Chiara University Hospital, Pisa, Italy aut Beattie Mary Division of General Internal Medicine, Department of Medicine, University of California San Francisco, San Francisco, CA, USA aut Chan Salina Cancer Risk Program, University of California San Francisco, Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA aut Domchek Susan Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut Nathanson Katherine Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut Rebbeck Timothy Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut Phelan Catherine Moffitt Cancer Center, Tampa, FL, USA aut Narod Steven Women's College Research Institute, Toronto, ON, Canada aut John Esther Cancer Prevention Institute of California, Fremont, CA, USA aut Hopper John Centre for Genetic Epidemiology, University of Melbourne, Victoria, Australia aut Buys Saundra Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA aut Daly Mary Fox Chase Cancer Center, Philadelphia, PA, USA aut Southey Melissa Department of Pathology, The University of Melbourne, 3010, Victoria, Australia aut Terry Mary-Beth Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA aut Tung Nadine Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Brookline Avenue, Boston, MA, USA aut Hansen Thomas Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark aut Osorio Ana Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain aut Benitez Javier Spanish Network on Rare Diseases (CIBERER), Madrid, Spain aut Durán Mercedes Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain aut Weitzel Jeffrey Division of Clinical Cancer Genetics, City of Hope Cancer Center, Duarte, CA, USA aut Garber Judy Dana Farber Cancer Institute, Harvard University, Boston, MA, USA aut Hamann Ute Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany aut Peock Susan Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Cook Margaret Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Oliver Clare Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Frost Debra Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Platte Radka Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Evans D. Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK aut Eeles Ros Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Surrey, UK aut Izatt Louise Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK aut Paterson Joan Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK aut Brewer Carole Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK aut Hodgson Shirley Clinical Genetics Department, St Georges Hospital, University of London, London, UK aut Morrison Patrick Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK aut Porteous Mary South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK aut Walker Lisa Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK aut Rogers Mark All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK aut Side Lucy North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK aut Godwin Andrew Department of Pathology and Laboratory, University of Kansas Medical Center, Kansas City, KS, USA aut Schmutzler Rita University Hospital of Cologne, Cologne, Germany aut Wappenschmidt Barbara University Hospital of Cologne, Cologne, Germany aut Laitman Yael The Susan Levy Gertner Oncogenetics unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel aut Meindl Alfons Technical University Munich, Munich, Germany aut Deissler Helmut University Hospital Ulm, Ulm, Germany aut Varon-Mateeva Raymonda Institute of Human Genetics, Charite Campus Virchow Klinikum, Berlin, Germany aut Preisler-Adams Sabine Institute of Human Genetics, University of Münster, Münster, Germany aut Kast Karin Department of Gynaecology and Obstetrics, University Hospital Carl Gustav, Technical University Dresden, Dresden, Germany aut Venat-Bouvet Laurence Department of Medical Oncology, Centre Hospitalier Universitaire Dupuytren, Limoges, France aut Stoppa-Lyonnet Dominique INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France aut Chenevix-Trench Georgia Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia aut Easton Douglas Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Klein Robert Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut Daly Mark Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut Friedman Eitan The Susan Levy Gertner Oncogenetics unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel aut Dean Michael Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA aut Clark Andrew Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA aut Altshuler David Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut Antoniou Antonis Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut Couch Fergus Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut Offit Kenneth Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut Gold Bert Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA aut Human Genetics Springer-Verlag 130/5(2011-11-01), 685-699 0340-6717 130:5<685 2011 130 439 https://doi.org/10.1007/s00439-011-1003-z text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-1003-z text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Im Kate Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA aut NATIONALLICENCE 700 1- Kirchhoff Tomas Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut NATIONALLICENCE 700 1- Wang Xianshu Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 700 1- Green Todd Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut NATIONALLICENCE 700 1- Chow Clement Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA aut NATIONALLICENCE 700 1- Vijai Joseph Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut NATIONALLICENCE 700 1- Korn Joshua Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut NATIONALLICENCE 700 1- Gaudet Mia Epidemiology Research Program, American Cancer Society, Atlanta, GA, USA aut NATIONALLICENCE 700 1- Fredericksen Zachary Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 700 1- Shane Pankratz V. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 700 1- Guiducci Candace Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut NATIONALLICENCE 700 1- Crenshaw Andrew Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut NATIONALLICENCE 700 1- McGuffog Lesley Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Kartsonaki Christiana Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Morrison Jonathan Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Healey Sue Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia aut NATIONALLICENCE 700 1- Sinilnikova Olga Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de Lyon/Centre Léon Bérard, Lyon, France aut NATIONALLICENCE 700 1- Mai Phuong Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA aut NATIONALLICENCE 700 1- Greene Mark Clinical Genetics Branch, National Cancer Institute, Rockville, MD, USA aut NATIONALLICENCE 700 1- Piedmonte Marion GOG Statistical and Data Center, Roswell Park Cancer Institute, Buffalo, NY, USA aut NATIONALLICENCE 700 1- Rubinstein Wendy NorthShore University Health System, Evanston, IL, USA aut NATIONALLICENCE 700 1- Hogervorst Frans Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Rookus Matti Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Collée J. Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Rotterdam, The Netherlands aut NATIONALLICENCE 700 1- Hoogerbrugge Nicoline Hereditary Cancer Clinic, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands aut NATIONALLICENCE 700 1- van Asperen Christi Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Meijers-Heijboer Hanne Department of Clinical Genetics, VU Medical Center, Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Van Roozendaal Cees Department of Clinical Genetics, University Medical Center, Maastricht, The Netherlands aut NATIONALLICENCE 700 1- Caldes Trinidad Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain aut NATIONALLICENCE 700 1- Perez-Segura Pedro Molecular Oncology Laboratory, Hospital Clinico San Carlos, Madrid, Spain aut NATIONALLICENCE 700 1- Jakubowska Anna International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Lubinski Jan International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Huzarski Tomasz International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland aut NATIONALLICENCE 700 1- Blecharz Paweł Center of Oncology, Maria Sklodowska-Curie Memorial Institute, Kraków, Poland aut NATIONALLICENCE 700 1- Nevanlinna Heli Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland aut NATIONALLICENCE 700 1- Aittomäki Kristiina Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland aut NATIONALLICENCE 700 1- Lazaro Conxi Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain aut NATIONALLICENCE 700 1- Blanco Ignacio Hereditary Cancer Program, Catalan Institute of Oncology-IDIBELL, Barcelona, Spain aut NATIONALLICENCE 700 1- Barkardottir Rosa Department of Pathology, Landspitali-LSH, Reykjavik, Iceland aut NATIONALLICENCE 700 1- Montagna Marco Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS, Padua, Italy aut NATIONALLICENCE 700 1- D'Andrea Emma Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV, IRCCS, Padua, Italy aut NATIONALLICENCE 700 1- Devilee Peter Department of Human Genetics and Pathology, Leiden University Medical Center, Leiden, The Netherlands aut NATIONALLICENCE 700 1- Olopade Olufunmilayo Center for Clinical Cancer Genetics and Global Health, Department of Medicine, University of Chicago Medical Center, Chicago, IL, USA aut NATIONALLICENCE 700 1- Neuhausen Susan Department of Population Sciences, The Beckman Research Institute of the City of Hope, Duarte, CA, USA aut NATIONALLICENCE 700 1- Peissel Bernard Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Milan, Italy aut NATIONALLICENCE 700 1- Bonanni Bernardo Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy aut NATIONALLICENCE 700 1- Peterlongo Paolo Unit of Genetic Susceptibility to Cancer, Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy aut NATIONALLICENCE 700 1- Singer Christian Department of Obstetrics and Gynecology, University of Vienna, Vienna, Austria aut NATIONALLICENCE 700 1- Rennert Gad CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel aut NATIONALLICENCE 700 1- Lejbkowicz Flavio CHS National Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and Technion Faculty of Medicine, Haifa, Israel aut NATIONALLICENCE 700 1- Andrulis Irene Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Glendon Gord Cancer Care Ontario, University of Toronto, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Ozcelik Hilmi Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, ON, Canada aut NATIONALLICENCE 700 1- Toland Amanda Department of Molecular Virology Immunology, and Medical Genetics and Internal Medicine, The Ohio State University, Columbus, OH, USA aut NATIONALLICENCE 700 1- Caligo Maria Section of Genetic Oncology, Department of Laboratory Medicine, University of Pisa and Santa Chiara University Hospital, Pisa, Italy aut NATIONALLICENCE 700 1- Beattie Mary Division of General Internal Medicine, Department of Medicine, University of California San Francisco, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Chan Salina Cancer Risk Program, University of California San Francisco, Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA aut NATIONALLICENCE 700 1- Domchek Susan Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Nathanson Katherine Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Rebbeck Timothy Abramson Cancer Center, University of Pennsylvania, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Phelan Catherine Moffitt Cancer Center, Tampa, FL, USA aut NATIONALLICENCE 700 1- Narod Steven Women's College Research Institute, Toronto, ON, Canada aut NATIONALLICENCE 700 1- John Esther Cancer Prevention Institute of California, Fremont, CA, USA aut NATIONALLICENCE 700 1- Hopper John Centre for Genetic Epidemiology, University of Melbourne, Victoria, Australia aut NATIONALLICENCE 700 1- Buys Saundra Huntsman Cancer Institute, University of Utah, Salt Lake City, UT, USA aut NATIONALLICENCE 700 1- Daly Mary Fox Chase Cancer Center, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Southey Melissa Department of Pathology, The University of Melbourne, 3010, Victoria, Australia aut NATIONALLICENCE 700 1- Terry Mary-Beth Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA aut NATIONALLICENCE 700 1- Tung Nadine Division of Hematology-Oncology, Beth Israel Deaconess Medical Center, Brookline Avenue, Boston, MA, USA aut NATIONALLICENCE 700 1- Hansen Thomas Genomic Medicine, Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark aut NATIONALLICENCE 700 1- Osorio Ana Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain aut NATIONALLICENCE 700 1- Benitez Javier Spanish Network on Rare Diseases (CIBERER), Madrid, Spain aut NATIONALLICENCE 700 1- Durán Mercedes Institute of Biology and Molecular Genetics, Universidad de Valladolid (IBGM-UVA), Valladolid, Spain aut NATIONALLICENCE 700 1- Weitzel Jeffrey Division of Clinical Cancer Genetics, City of Hope Cancer Center, Duarte, CA, USA aut NATIONALLICENCE 700 1- Garber Judy Dana Farber Cancer Institute, Harvard University, Boston, MA, USA aut NATIONALLICENCE 700 1- Hamann Ute Molecular Genetics of Breast Cancer, Deutsches Krebsforschungszentrum (DKFZ), Heidelberg, Germany aut NATIONALLICENCE 700 1- Peock Susan Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Cook Margaret Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Oliver Clare Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Frost Debra Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Platte Radka Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Evans D. Genetic Medicine, Manchester Academic Health Sciences Centre, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK aut NATIONALLICENCE 700 1- Eeles Ros Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Surrey, UK aut NATIONALLICENCE 700 1- Izatt Louise Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK aut NATIONALLICENCE 700 1- Paterson Joan Department of Clinical Genetics, East Anglian Regional Genetics Service, Addenbrookes Hospital, Cambridge, UK aut NATIONALLICENCE 700 1- Brewer Carole Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, UK aut NATIONALLICENCE 700 1- Hodgson Shirley Clinical Genetics Department, St Georges Hospital, University of London, London, UK aut NATIONALLICENCE 700 1- Morrison Patrick Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK aut NATIONALLICENCE 700 1- Porteous Mary South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, UK aut NATIONALLICENCE 700 1- Walker Lisa Oxford Regional Genetics Service, Churchill Hospital, Oxford, UK aut NATIONALLICENCE 700 1- Rogers Mark All Wales Medical Genetics Services, University Hospital of Wales, Cardiff, UK aut NATIONALLICENCE 700 1- Side Lucy North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Trust, London, UK aut NATIONALLICENCE 700 1- Godwin Andrew Department of Pathology and Laboratory, University of Kansas Medical Center, Kansas City, KS, USA aut NATIONALLICENCE 700 1- Schmutzler Rita University Hospital of Cologne, Cologne, Germany aut NATIONALLICENCE 700 1- Wappenschmidt Barbara University Hospital of Cologne, Cologne, Germany aut NATIONALLICENCE 700 1- Laitman Yael The Susan Levy Gertner Oncogenetics unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel aut NATIONALLICENCE 700 1- Meindl Alfons Technical University Munich, Munich, Germany aut NATIONALLICENCE 700 1- Deissler Helmut University Hospital Ulm, Ulm, Germany aut NATIONALLICENCE 700 1- Varon-Mateeva Raymonda Institute of Human Genetics, Charite Campus Virchow Klinikum, Berlin, Germany aut NATIONALLICENCE 700 1- Preisler-Adams Sabine Institute of Human Genetics, University of Münster, Münster, Germany aut NATIONALLICENCE 700 1- Kast Karin Department of Gynaecology and Obstetrics, University Hospital Carl Gustav, Technical University Dresden, Dresden, Germany aut NATIONALLICENCE 700 1- Venat-Bouvet Laurence Department of Medical Oncology, Centre Hospitalier Universitaire Dupuytren, Limoges, France aut NATIONALLICENCE 700 1- Stoppa-Lyonnet Dominique INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France aut NATIONALLICENCE 700 1- Chenevix-Trench Georgia Genetics and Population Health Division, Queensland Institute of Medical Research, Brisbane, Australia aut NATIONALLICENCE 700 1- Easton Douglas Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Klein Robert Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut NATIONALLICENCE 700 1- Daly Mark Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut NATIONALLICENCE 700 1- Friedman Eitan The Susan Levy Gertner Oncogenetics unit, Institute of Genetics, Sheba Medical Center, Tel Hashomer, Israel aut NATIONALLICENCE 700 1- Dean Michael Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA aut NATIONALLICENCE 700 1- Clark Andrew Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA aut NATIONALLICENCE 700 1- Altshuler David Department of Genetics and of Medicine, Harvard Medical School, Boston, MA, USA aut NATIONALLICENCE 700 1- Antoniou Antonis Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK aut NATIONALLICENCE 700 1- Couch Fergus Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA aut NATIONALLICENCE 700 1- Offit Kenneth Clinical Genetics Service, Department of Medicine, Program in Cancer Prevention and Population Research, Program in Cancer Biology and Genetics (RJK), Memorial Sloan-Kettering Cancer Center, New York, NY, USA aut NATIONALLICENCE 700 1- Gold Bert Center for Cancer Research, Cancer Inflammation Program, Human Genetics Section, National Cancer Institute, Frederick, MD, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/5(2011-11-01), 685-699 0340-6717 130:5<685 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer