Supplemental Table 1. Summary of BRCA1 and BRCA2 mutation carriers used in analyses from 28 study centers in CIMBA
Study center / BRCA1 / BRCA2Unaffected / Affected / Unaffected / Affected
BCFR / 184 / 319 / 146 / 215
BFBOCC / 49 / 44 / 0 / 0
CBCS / 107 / 86 / 45 / 53
CNIO / 87 / 83 / 116 / 123
CONSIT TEAM / 352 / 389 / 156 / 312
DKFZ / 21 / 48 / 12 / 15
DNA HEBON / 108 / 105 / 0 / 0
EMBRACE / 107 / 85 / 111 / 88
FCCC / 50 / 30 / 30 / 23
GC-HBOC / 171 / 274 / 96 / 155
GEMO / 270 / 426 / 80 / 259
GOG / 192 / 192 / 144 / 127
ILUH / 0 / 1 / 25 / 103
INHERIT / 38 / 35 / 38 / 44
IOVHBOCS / 52 / 68 / 32 / 79
KCONFAB / 71 / 58 / 70 / 54
MAYO / 7 / 9 / 11 / 20
MSKCC / 111 / 179 / 103 / 133
NCI / 114 / 46 / 52 / 22
NNPIO / 22 / 62 / 0 / 0
OCGN / 141 / 79 / 106 / 66
OUH / 167 / 101 / 108 / 86
PBCS / 40 / 47 / 20 / 35
SWE-BRCA / 290 / 211 / 89 / 83
UCI / 111 / 56 / 71 / 49
UCSF / 28 / 16 / 10 / 18
UKGRFOCR / 132 / 35 / 28 / 6
UPENN / 23 / 36 / 13 / 20
Supplemental Table 2. Associations between rs9393957 and risk of cancer in BRCA1 mutation carriers.
Analysis / Affected / Unaffected / HR / 95% C.I. / PtrendBreast cancer risk
Replication / 3120 / 3045 / 0.98 / 0.90-1.07 / 0.68
Oophorectomy / 1610 / 3045 / 0.98 / 0.89-1.07 / 0.62
Excluding prevalent cases / 3073 / 3317 / 0.99 / 0.90-1.08 / 0.74
Ovarian cancer risk
Replication / 1226 / 4939 / 1.10 / 0.96-1.27 / 0.18
Authors
Lesley McGuffog1, Phuong L. Mai2, Jennifer T. Loud2, Gord Glendon3, Hilmi Ozcelik4,5, Anne-Marie Gerdes6, Torben A. Kruse7, Anne-Bine Skytte8, Uffe Birk Jensen9, Helena Jernström10, Håkan Olsson10, Johanna Rantala11, Gisela Barbany Bustinza11, Hans Ehrencrona12, Beatrice Melin13, Susan M. Domchek14, Jan Lubinski15, Javier Benítez16, Adriana Lasa17, Cristina Martínez Bouzas18, Margaret Cook1,19, Clare Oliver1,19, Debra Frost1,19, Don Conroy19,20, D. Gareth Evans19,21, Fiona Lalloo19,21, Gabriella Pichert19,22, Rosemarie Davidson19,23, Trevor Cole19,24, Jackie Cook19,25, Joan Paterson19,26, Shirley Hodgson19,27, Patrick J. Morrison19,28, Mary E. Porteous19,29,Lisa Walker19,30, M. John Kennedy19,31, Huw Dorkins19,32, Susan Peock1,19; for EMBRACE, Paul DP Pharoah27, Antoine de Pauw33,34, Sylvie Mazoyer34,35, Valérie Bonadon34,36,37, Christine Lasset34,36,37, Hélène Dreyfus34,38,39, Dominique Leroux34,38,39, Agnès Hardouin34,40, Pascaline Berthet34,40, Laurence Faivre34,41,42, Catherine Loustalot34,42, Tetsuro Noguchi34,43, Hagay Sobol34,43, Etienne Rouleau34,44, Catherine Nogues34,45, Marc Frénay34,46, Laurence Vénat-Bouvet34,47, Olga M. Sinilnikova34,48; for GEMO, John L. Hopper49, Mary B. Daly50, Mary Beth Terry51, Wendy Chung51, Esther M. John52, Alex Miron53, David Goldgar54; for BCFR, Anne Catharina Dressler55, Finn C. Nielsen56, Bent Ejlertsen57, Tomas Kirchhoff58, Vincent Devlin58, Ana Dutra-Clarke58, Jack B. Basil59, Michael Friedlander60, Wendy Rubinstein61, John Boggess62, Katie Wakeley63, Kelly-Anne Phillips64,65,66, Silvia Tognazzo67, Susan J. Ramus68, Mieke Kriege69,70, Nicoline Hoogerbrugge70,71, Rob B. van der Luijt70,72, Christi J. van Asperen70,73, Peter Devilee70,74, E.J. Meijers-Heijboer70,75 Marinus J. Blok70,76, Cora M. Aalfs70,77, Frans Hogervorst70,78, Matti Rookus70,79; for HEBON, Rita Schmutzler80, Barbara Wappenschmidt80, Alfons Meindl81, Nina Ditsch82, Helmut Deissler83, Norbert Arnold84, Raymonda Varon-Mateeva85, Karin Kast86, Dieter Niederacher87, Ines Schoenbuchner88, Dorothea Gadzicki89, Sabine Preisler-Adams90, Christoph Engel91; for GCHBOC, Yuan Chun Ding92, Noralane M. Lindor93, Paolo Peterlongo94,95, Siranoush Manoukian96, Bernard Peissel96, Giulia Melloni96, Irene Feroce97, Loris Bernard98,99, Frederique Mariette95,99, Barbara Pasini100, Alessandra Viel102, Giuseppe Giannini103, Maurizio Genuardi104,105, Antonella Savarese105, Paolo Radice94,95, Jeffrey N. Weitzel106
1 Center for Cancer Genetic Epidemiology, Department of Public Health and Primary
Care, University of Cambridge, Cambridge, UK
2 Clinical Genetics Branch, US National Cancer Institute, Rockville, Maryland, USA
3 Ontario Cancer Genetics Network (OCGN), Cancer Care Ontario, Toronto, Ontario, Canada
4 Fred A. Litwin Center for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, New York, USA
5 Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada
6 Department of Clinical Genetics, Rigshospitalet and OdenseUniversityHospital, Odense, Denmark
7 Odense University Hospital, Department of Clinical Genetics, Odense, Denmark
8 Department of Clinical Genetics, Vejle Hospital, Denmark
9 Department of Clinical Genetics, SkejbyHospital, Aarhus, Denmark
10 Department of Oncology, LundUniversity, Lund, Sweden
11 Department of Clinical Genetics, KarolinskaUniversityHospital, Stockholm, Sweden
12 Dept of Genetics and Pathology, Rudbeck Laboratory, UppsalaUniversity, Uppsala, Sweden
13 Department of Radiation Sciences, Oncology, UmeaUniversity, Umea, Sweden
14 Abramson Cancer Center and PerelmanSchool of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
15 International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
16 Human Genetics Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Madrid, Spain and Spanish Network on Rare Diseases (CIBERER)
17 Genetics Service, Hospital de la Sant Creu i Sant Pau, Barcelona, Spain
18 Molecular Genetics Laboratory (Department of Biochemistry), CrucesHospital Barakaldo, Bizkaia, Spain
19 Epidemiological study of BRCA1 and BRCA2 mutation carriers
20 Department of Oncology, University of Cambridge, Cambridge, United Kingdom;
21 Genetic Medicine, Manchester Academic Health Sciences Center, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom;
22 Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom;
23 Ferguson-SmithCenter for Clinical Genetics, Glasgow, United Kingdom;
24 West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, United Kingdom;
25 Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom;
26 Department of Clinical Genetics, East Anglian Regional Genetics Service, AddenbrookesHospital, Cambridge, United Kingdom;
27 Clinical Genetics Department, St Georges Hospital, University of London, London, United Kingdom;
28 Northern Ireland Regional Genetics Center, BelfastCityHospital, Belfast, United Kingdom;
29 South East of Scotland Regional Genetics Service, Western General Hospital, Edinburgh, United Kingdom;
30 Oxford Regional Genetics Service, ChurchillHospital, Oxford, United Kingdom;
31 Cancer Genetics Program, Hope Directorate, St James's Hospital, Dublin, Ireland;
32 North West Thames Regional Genetics Service, Kennedy-GaltonCenter, Harrow, United Kingdom
33 INSERM U509, Service de Génétique Oncologique, Institut Curie, Université Paris-Descartes, Paris, France;
34 GEMO study: Cancer Genetics Network “Groupe Génétique et Cancer”, Fédération Nationale des Centres de Lutte Contre le Cancer, France;
35 Equipe labellisée LIGUE 2008, UMR5201 CNRS, Centre Léon Bérard, Université de Lyon, Lyon, France;
36 CNRS UMR5558, Université Lyon 1, Lyon, France;
37 Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, Lyon, France;
38 Department of Genetics, Centre Hospitalier Universitaire de Grenoble, Grenoble, France;
39 Institut Albert Bonniot, Université de Grenoble, Grenoble, France;
40 Centre François Baclesse, Caen, France;
41 Centre de Génétique, Centre Hospitalier Universitaire de Dijon, Dijon, France;
42 Centre de Lutte Contre le Cancer Georges François Leclerc, Dijon, France;
43 INSERM UMR599, Département d'Oncologie Génétique, Institut Paoli-Calmettes, Marseille, France;
44 INSERM U735, Centre René Huguenin, Saint-Cloud, France;
45 Epidémiologie Clinique, Oncogénétique, Centre René Huguenin, Saint-Cloud, France;
46 Centre Antoine Lacassagne, Nice, France;
47 Department of Oncology, Centre Hospitalier Universitaire de Limoges, Limoges, France;
48 Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Hospitalier Universitaire de 62 Lyon/Centre Léon Bérard, Lyon, France
49 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, Melbourne, VIC, Australia
50 Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
51 Department of Epidemiology, Columbia University, New York, New York, USA
52 Department of Epidemiology, Cancer Prevention Institute of California, Fremont, California, USA, and Division of Epidemiology, Department of Health Research and Policy, Stanford University School of Medicine and Stanford Cancer Institute, Stanford, California, USA
53 Department of Cancer Biology, Dana-Farber Cancer Institute, Boston, Massachusetts , USA
54 Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA
55 Department of Obstetrics and Gynecology and Comprehensive Cancer Center MUW,, Medical University of Vienna, Vienna, Austria
56 Center for Genomic Medicine, Rigshospitalet, CopenhagenUniversityHospital, Copenhagen, Denmark
57 Department of Oncology, Rigshospitalet, CopenhagenUniversityHospital, Copenhagen, Denmark
58 Clinical Genetics Service, Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, New York, USA
59 Department of Obstetrics and Gynecology, GoodSamaritanHospital, Cincinnati, Ohio, USA
60 Medical Oncology, the Prince of Wales Hospital, Randwick, Australia
61 NorthShoreUniversity Health System, Evanston, Illinois, USA
62 University of North Carolina, Chapel Hill, North Carolina, USA
63 Tufts University, New EnglandMedicalCenter, Boston, Massachusetts, USA
64 Division of Cancer Medicine, Peter MacCallum Cancer Centre, Melbourne, Australia
65 Sir Peter MacCallum Dept of Oncology, The university of Melbourne, Melbourne, Australia
66 Dept of Medicine St Vincent’s Hospital, The University of Melbourne, MelbourneAustralia
67 Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, Padua, Italy
68 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, California, USA
69 Department of Medical Oncology, Family Cancer Clinic, Erasmus MC-Daniel den Hoed Cancer Center, Rotterdam, the Netherlands;
70 HEreditary Breast and Ovarian Cancer Group Netherlands (HEBON)
71 Hereditary Cancer Clinic, RadboudUniversity, NijmegenMedicalCenter, Nijmegen, the Netherlands;
72 Department of Medical Genetics, UniversityMedicalCenterUtrecht, Utrecht, the Netherlands;
73 Department Of Clinical Genetics, LeidenUniversityMedicalCenter, Leiden, the Netherlands;
74 Department of Human Genetics, Department of Pathology, LeidenUniversityMedicalCenter, Leiden, the Netherlands;
75 Department of Clinical Genetics, VU MedicalCenter, Amsterdam, the Netherlands;
76 Department of Genetics and Cell Biology, UniversityMedicalCenter, Maastricht, the Netherlands;
77 Department of Clinical Genetics, AcademicMedicalCenter, Amsterdam, Amsterdam, the Netherlands;
78 Family Cancer Clinic, Netherlands Cancer Institute, Amsterdam, the Netherlands;
79 Department of Epidemiology, Netherlands Cancer Institute, Amsterdam, the Netherlands;
80 Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), University hospital of Cologne, Germany
81 Department of Gynaecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Germany
82 Department of Gynaecology and Obstetrics, Ludwig-MaximilianUniversityMunich, Germany
83 Department of Gynaecology and Obstetrics, UniversityHospitalUlm, Germany
84 Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Germany
85 Institute of Human Genetics, Campus Virchov Klinikum, Charite Berlin, Germany
86 Department of Gynaecology and Obstetrics, University Hospital Carl Gustav Carus, Technical University Dresden, Germany
87 Department of Gynaecology and Obstetrics, UniversityHospital Düsseldorf, Heinrich-HeineUniversityDüsseldorf, Germany
88 Centre of Familial Breast and Ovarian Cancer, Department of Medical Genetics, Institute of Human Genetics, University Würzburg, Germany
89 Institute of Cell and Molecular Pathology, HannoverMedicalSchool, Hannover, Germany
90 Institute of Human Genetics, University of Münster, Münster, Germany
91 Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
92 Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA
93 Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, USA
94 Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy
95 IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Milan, Italy
96 Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale Tumori (INT), Milan, Italy
97 Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Milan, Italy
98 Division of Experimental Oncology, Istituto Europeo di Oncologia (IEO), Milan, Italy
99 Cogentech, Cancer Genetic Test Laboratory, Milan, Italy
100 Department of Genetics, Biology and Biochemistry, University of Turin, Turin, Italy
101 Division of Experimental Oncology 1, Centro di Riferimento Oncologico, IRCCS, Aviano (PN), Italy
102 Department of Molecular Medicine, University “La Sapienza”, Rome, Italy
103 Unit of Medical Genetics, Department of Clinical Physiopathology, University of Florence, Florence, Italy
104 Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy
105 Department of Medical Oncology, Regina Elena National Cancer Institute, Rome, Italy
106 City of HopeNationalMedicalCenter, Duarte, California, USA