Johnson N 1 , Dudbridge F 2 , Orr N 3 , Gibson L 4 , Jones ME 5 , Schoemaker MJ 6 Show all authors , Folkerd EJ 7 , Haynes BP 8 , Hopper JL 9 , Southey MC 10 , Dite GS 11 , Apicella C 12 , Schmidt MK 13 , Broeks A 14 , Van't Veer LJ 15 , Atsma F 16 , Muir K 17 , Lophatananon A 18 , Fasching PA 19 , Beckmann MW 20 , Ekici AB 21 , Renner SP 22 , Sawyer E 23 , Tomlinson I 24 , Kerin M 25 , Miller N 26 , Burwinkel B 27 , Marme F 28 , Schneeweiss A 29 , Sohn C 30 , Guénel P 31 , Truong T 32 , Cordina E 33 , Menegaux F 34 , Bojesen SE 35 , Nordestgaard BG 36 , Flyger H 37 , Milne R 38 , Zamora MP 39 , Arias Perez JI 40 , Benitez J 41 , Bernstein L 42 , Anton-Culver H 43 , Ziogas A 44 , Clarke Dur C 45 , Brenner H 46 , Müller H 47 , Arndt V 48 , Dieffenbach AK 49 , Meindl A 50 , Heil J 51 , Bartram CR 52 , Schmutzler RK 53 , Brauch H 54 , Justenhoven C 55 , Ko YD 56 , GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network , Nevanlinna H 57 , Muranen TA 58 , Aittomäki K 59 , Blomqvist C 60 , Matsuo K 61 , Dörk T 62 , Bogdanova NV 63 , Antonenkova NN 64 , Lindblom A 65 , Mannermaa A 66 , Kataja V 67 , Kosma VM 68 , Hartikainen JM 69 , Chenevix-Trench G 70 , Beesley J 71 , kConFab Investigators , Australian Ovarian Cancer Study Group , Wu AH 72 , Van den Berg D 73 , Tseng CC 74 , Lambrechts D 75 , Smeets D 76 , Neven P 77 , Wildiers H 78 , Chang-Claude J 79 , Rudolph A 80 , Nickels S 81 , Flesch-Janys D 82 , Radice P 83 , Peterlongo P 84 , Bonanni B 85 , Pensotti V 86 , Couch FJ 87 , Olson JE 88 , Wang X 89 , Fredericksen Z 90 , Pankratz VS 91 , Giles GG 92 , Severi G 93 , Baglietto L 94 , Haiman C 95 , Simard J 96 , Goldberg MS 97 , Labrèche F 98 , Dumont M 99 , Soucy P 100 , Teo S 101 , Yip CH 102 , Phuah SY 103 , Cornes BK 104 , Kristensen VN 105 , Grenaker Alnæs G 106 , Børresen-Dale AL 107 , Zheng W 108 , Winqvist R 109 , Pylkäs K 110 , Jukkola-Vuorinen A 111 , Grip M 112 , Andrulis IL 113 , Knight JA 114 , Glendon G 115 , Mulligan AM 116 , Devillee P 117 , Figueroa J 118 , Chanock SJ 119 , Lissowska J 120 , Sherman ME 121 , Hall P 122 , Schoof N 123 , Hooning M 124 , Hollestelle A 125 , Oldenburg RA 126 , Tilanus-Linthorst M 127 , Liu J 128 , Cox A 129 , Brock IW 130 , Reed MW 131 , Cross SS 132 , Blot W 133 , Signorello LB 134 , Pharoah PD 135 , Dunning AM 136 , Shah M 137 , Kang D 138 , Noh DY 139 , Park SK 140 , Choi JY 141 , Hartman M 142 , Miao H 143 , Lim WY 144 , Tang A 145 , Hamann U 146 , Försti A 147 , Rüdiger T 148 , Ulmer HU 149 , Jakubowska A 150 , Lubinski J 151 , Jaworska-Bieniek K 152 , Durda K 153 , Sangrajrang S 154 , Gaborieau V 155 , Brennan P 156 , McKay J 157 , Slager S 158 , Toland AE 159 , Vachon C 160 , Yannoukakos D 161 , Shen CY 162 , Yu JC 163 , Huang CS 164 , Hou MF 165 , González-Neira A 166 , Tessier DC 167 , Vincent D 168 , Bacot F 169 , Luccarini C 170 , Dennis J 171 , Michailidou K 172 , Bolla MK 173 , Wang J 174 , Easton DF 175 , García-Closas M 176 , Dowsett M 177 , Ashworth A 178 , Swerdlow AJ 179 , Peto J 180 , dos Santos Silva I 181 , Fletcher O 182

Affiliations 

  • 1 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK. nichola.johnson@icr.ac.uk
  • 2 Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT, UK. frank.dudbridge@lshtm.ac.uk
  • 3 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK. Nicholas.Orr@icr.ac.uk
  • 4 Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT, UK. lorna.gibson@lshtm.ac.uk
  • 5 Division of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Belmont, Sutton, Surrey, SM2 5NG, UK. Michael.Jones@icr.ac.uk
  • 6 Division of Genetics and Epidemiology, The Institute of Cancer Research, 15 Cotswold Road, Belmont, Sutton, Surrey, SM2 5NG, UK. Minouk.Schoemaker@icr.ac.uk
  • 7 The Academic Department of Biochemistry, The Royal Marsden Hospital, Fulham Road, London, SW3 6JJ, UK. Elizabeth.Folkerd@icr.ac.uk
  • 8 The Academic Department of Biochemistry, The Royal Marsden Hospital, Fulham Road, London, SW3 6JJ, UK. Ben.Haynes@icr.ac.uk
  • 9 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. j.hopper@unimelb.edu.au
  • 10 Genetic Epidemiology Department, Department of Pathology, The University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. msouthey@unimelb.edu.au
  • 11 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. g.dite@unimelb.edu.au
  • 12 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. capic@unimelb.edu.au
  • 13 Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Plesmanlaan 121, 1066CX, Amsterdam, The Netherlands. mk.schmidt@nki.nl
  • 14 Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Plesmanlaan 121, 1066CX, Amsterdam, The Netherlands. a.broeks@nki.nl
  • 15 Division of Molecular Pathology, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Plesmanlaan 121, 1066CX, Amsterdam, The Netherlands. l.vt.veer@nki.nl
  • 16 Sanquin, Radboud Universiteit Nijmegen, 6525 GA, Nijmegen, The Netherlands. f.atsma@iq.umc.nl
  • 17 Warwick Medical School, University of Warwick, Coventry, CV4 7AJ, UK. kenneth.muir@warwick.ac.uk
  • 18 Warwick Medical School, University of Warwick, Coventry, CV4 7AJ, UK. A.Lophatananon@warwick.ac.uk
  • 19 University Breast Center, Department of Gynecology and Obstetrics, University Hospital Erlangen, Postfach 2306, D-91012, Erlangen, Germany. peter.fasching@uk-erlangen.de
  • 20 University Breast Center, Department of Gynecology and Obstetrics, University Hospital Erlangen, Postfach 2306, D-91012, Erlangen, Germany. Fk-direktion@uk-erlangen.de
  • 21 Institute of Human Genetics, Friedrich Alexander University Erlangen- Nuremberg, Schlossplatz 4, 91054, Erlangen, Germany. Arif.Ekici@humgenet.uni-erlangen.de
  • 22 University Breast Center, Department of Gynecology and Obstetrics, University Hospital Erlangen, Postfach 2306, D-91012, Erlangen, Germany. stefan.renner@uk-erlangen.de
  • 23 Division of Cancer Studies, NIHR Comprehensive Biomedical Research Centre, Guy's & St. Thomas' NHS Foundation Trust in partnership with King's College London, Guy's Hospital, Great Maze Pond, London, SE1 9RT, UK. elinor.sawyer@kcl.ac.uk
  • 24 Welcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK. iant@well.ox.ac.uk
  • 25 Surgery, Clinical Science Institute, Galway University Hospital and National University of Ireland, University Road, Galway, Ireland. michael.kerin@nuigalway.ie
  • 26 Surgery, Clinical Science Institute, Galway University Hospital and National University of Ireland, University Road, Galway, Ireland. nicola.miller@nuigalway.ie
  • 27 Department of Obstetrics and Gynecology, University of Heidelberg, Vosstrasse 9, 69115, Heidelberg, Germany. Barbara.Burwinkel@med.uni-heidelberg.de
  • 28 Department of Obstetrics and Gynecology, University of Heidelberg, Vosstrasse 9, 69115, Heidelberg, Germany. frederikmarme@gmail.com
  • 29 Department of Obstetrics and Gynecology, University of Heidelberg, Vosstrasse 9, 69115, Heidelberg, Germany. Andreas.Schneeweiss@med.uni-heidelberg.de
  • 30 Department of Obstetrics and Gynecology, University of Heidelberg, Vosstrasse 9, 69115, Heidelberg, Germany. Christof.Sohn@med.uni-heidelberg.de
  • 31 Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, 101 rue de Tolbiac, Villejuif, 75654, Paris, France. pascal.guenel@inserm.fr
  • 32 Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, 101 rue de Tolbiac, Villejuif, 75654, Paris, France. therese.truong@inserm.fr
  • 33 Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, 101 rue de Tolbiac, Villejuif, 75654, Paris, France. emilie.cordina@inserm.fr
  • 34 Inserm (National Institute of Health and Medical Research), CESP (Center for Research in Epidemiology and Population Health), U1018, Environmental Epidemiology of Cancer, 101 rue de Tolbiac, Villejuif, 75654, Paris, France. florence.menegaux@inserm.fr
  • 35 Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev Rinvej 75, 2730, Herlev, Copenhagen, Denmark. stig.egil.bojesen@regionh.dk
  • 36 Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, Herlev Rinvej 75, 2730, Herlev, Copenhagen, Denmark. brno@heh.regionh.dk
  • 37 Department of Breast Surgery, Herlev Hospital, Copenhagen University Hospital, Herlev Rinvej 75, Herlev, 2730, Copenhagen, Denmark. Henrik.Flyger@regionh.dk
  • 38 Genetic and Molecular Epidemiology Group, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Calle de Melchor Fernandez Almagro, 3, 28029, Madrid, Spain. roger.milne@cancervic.org.au
  • 39 Servicio de Oncología Médica, Hospital Universitario La Paz, Paseo de la Castellana, 261, 28046, Madrid, Spain. zamorapilar@gmail.com
  • 40 Servicio de Cirugía General y Especialidades, Hospital Monte Naranco, Avda. Dres. Fernández Vega, 107, Oviedo, Spain. jiarias@msn.com
  • 41 Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Calle de Melchor Fernandez Almagro, 3, 28029, Madrid, Spain. jbenitez@cnio.es
  • 42 Division of Cancer Etiology, Department of Population Sciences, Beckman Research Institute of the City of Hope, Duarte, CA, USA. LBernstein@coh.org
  • 43 Department of Epidemiology, School of Medicine, University of California Irvine, 224 Irvine Hall, Irvine, California, 92697-7550, USA. hantoncu@uci.edu
  • 44 Department of Epidemiology, School of Medicine, University of California Irvine, 224 Irvine Hall, Irvine, California, 92697-7550, USA. aziogas@uci.edu
  • 45 Cancer Prevention Institute of California, 2201 Walnut Avenue, Suite 300, Fremont, California, 95438, USA. tina@CPIC.org
  • 46 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Im Neuenheimer Feld 280, 69121, Heidelberg, Germany. h.brenner@dkfz.de
  • 47 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Im Neuenheimer Feld 280, 69121, Heidelberg, Germany. h.mueller@dkfz.de
  • 48 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Im Neuenheimer Feld 280, 69121, Heidelberg, Germany. v.arndt@dkfz.de
  • 49 Division of Clinical Epidemiology and Aging Research, German Cancer Research Center, Im Neuenheimer Feld 280, 69121, Heidelberg, Germany. A.Dieffenbach@dkfz-heidelberg.de
  • 50 Clinic of Gynecology and Obstetrics, Division of Tumor Genetics, Klinikum rechts der Isar, Technical University Munich, Ismaninger Strasse 22, D-81675, Munich, Germany. alfons.meindl@lrz.tu-muenchen.de
  • 51 Department of Obstetrics and Gynecology, University of Heidelberg, Vosstrasse 9, 69115, Heidelberg, Germany. joerg.heil@med.uni-heidelberg.de
  • 52 Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 366, 69121, Heidelberg, Germany. cr_bartram@med.uni-heidelberg.de
  • 53 Division of Molecular Gyneco-Oncology, Department of Gynaecology and Obstetrics, Center of Molecular Medicine Cologne (CMMC), University Hospital of Cologne, ZMMK-Forschungsgebäude, Robert-Koch-Strasse 21, 50931, Cologne, Germany. rita.schmutzler@uk-koeln.de
  • 54 Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Robert Bosch Stiftung GmbH, Heidehofstrasse 31, 70184, Stuttgart, Germany. hiltrud.brauch@ikp-stuttgart.de
  • 55 Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Robert Bosch Stiftung GmbH, Heidehofstrasse 31, 70184, Stuttgart, Germany. christina.justenhoven@bioscientia.de
  • 56 Department of Internal Medicine, Evangelische Kliniken Bonn GGmbH, Johanniter Krankenhaus, 53113, Bonn, Germany. Yon-Dschun.Ko@ek-bonn.de
  • 57 Department of Obstetrics and Gynecology, Helsinki University Central Hospital, University of Helsinki, Haartmaninkatu 2, P.O. Box 140, FIN-00029, Helsinki, Finland. Heli.Nevanlinna@hus.fi
  • 58 Department of Obstetrics and Gynecology, Helsinki University Central Hospital, University of Helsinki, Haartmaninkatu 2, P.O. Box 140, FIN-00029, Helsinki, Finland. taru.a.muranen@helsinki.fi
  • 59 Department of Clinical Genetics, Helsinki University Central Hospital, Haartmaninkatu 2, P.O. Box 140, FIN-00029, Helsinki, Finland. kristiina.aittomaki@hus.fi
  • 60 Department of Oncology, Helsinki University Central Hospital, Haartmaninkatu 2, P.O. Box 140, FIN-00029, Helsinki, Finland. carl.blomqvist@helsinki.fi
  • 61 Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, 1-1Kanokoden, Chikusa-ku, Nagoya, 464-8681, Japan. kmatsuo@aichi-cc.jp
  • 62 Department of Obstetrics and Gynaecology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. doerk.thilo@mh-hannover.de
  • 63 Department of Radiation Oncology, Hannover Medical School, Carl-Neuberg-Str. 1, 30625, Hannover, Germany. nata_bogdanova@yahoo.com
  • 64 N.N. Alexandrov Research Institute of Oncology and Medical Radiology, 223040, p. Lesnoy, Minsk, Belarus. antonenkova.natalia.omd@tut.by
  • 65 Department of Molecular Medicine and Surgery, Karolinska Institutet, Solnavägen 1, 171 77, Solna, Stockholm, Sweden. Annika.Lindblom@ki.se
  • 66 School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Yliopistonranta 1, P.O. Box 1627, FI-70211, Kuopio, Finland. arto.mannermaa@uef.fi
  • 67 School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Yliopistonranta 1, P.O. Box 1627, FI-70211, Kuopio, Finland. vesa.kataja@kuh.fi
  • 68 School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Yliopistonranta 1, P.O. Box 1627, FI-70211, Kuopio, Finland. veli-matti.kosma@uef.fi
  • 69 School of Medicine, Institute of Clinical Medicine, Pathology and Forensic Medicine, University of Eastern Finland, Yliopistonranta 1, P.O. Box 1627, FI-70211, Kuopio, Finland. jaana.hartikainen@uef.fi
  • 70 Department of Genetics, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane Queensland, 4006, Australia. Georgia.Trench@qimr.edu.au
  • 71 Department of Genetics, Queensland Institute of Medical Research, 300 Herston Rd, Herston, Brisbane Queensland, 4006, Australia. Jonathan.Beesley@qimr.edu.au
  • 72 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1975 Zonal Ave, Los Angeles, CA, 90033, USA. Anna.Wu@med.usc.edu
  • 73 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1975 Zonal Ave, Los Angeles, CA, 90033, USA. dvandenb@usc.edu
  • 74 Department of Preventive Medicine, Keck School of Medicine, University of Southern California, 1975 Zonal Ave, Los Angeles, CA, 90033, USA. Chiu-chen.Tseng@med.usc.edu
  • 75 Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Oude Markt 13 - bus 5005, 3000, Leuven, Belgium. Diether.Lambrechts@vib-kuleuven.be
  • 76 Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Oude Markt 13 - bus 5005, 3000, Leuven, Belgium. Dominiek.Smeets@vib-kuleuven.be
  • 77 Multidisciplinary Breast Center, University Hospital Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium. Patrick.Neven@uzleuven.be
  • 78 Multidisciplinary Breast Center, University Hospital Gasthuisberg, Herestraat 49, 3000, Leuven, Belgium. Hans.Wildiers@uzleuven.be
  • 79 Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. j.chang-claude@dkfz-heidelberg.de
  • 80 Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. a.rudolph@dkfz.de
  • 81 Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. s.nickels@dkfz.de
  • 82 Department of Cancer Epidemiology/Clinical Cancer Registry, University Clinic Hamburg-Eppendorf, Martinistrasse 52, D - 20246, Hamburg, Germany. flesch@uke.uni-hamburg.de
  • 83 Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. paolo.radice@istitutotumori.mi.it
  • 84 Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori (INT), Via Venezian 1, 20133, Milan, Italy. paolo.peterlongo@ifom.eu
  • 85 Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Via Giuseppe Ripamonti 435, 20141, Milan, Italy. bernardo.bonanni@ieo.it
  • 86 IFOM, Fondazione Istituto FIRC di Oncologia Molecolare, Via Adamello 16, 20139, Milan, Italy. valeria.pensotti@ifom.eu
  • 87 Department of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. couch.fergus@mayo.edu
  • 88 Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. olsonj@mayo.edu
  • 89 Department of Laboratory Medicine and Pathology, Division of Experimental Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. wang.xianshu@mayo.edu
  • 90 Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. Zach.Fredericksen@northerntool.com
  • 91 Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. pankratz.vernon@mayo.edu
  • 92 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. Graham.Giles@cancervic.org.au
  • 93 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. Gianluca.severi@cancervic.org.au
  • 94 Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, University of Melbourne, 1-100 Gratton Street, Parkville, Melbourne, Victoria, 3010, Australia. Laura.baglietto@cancervic.org.au
  • 95 Laboratory for Translational Genetics, Department of Oncology, University of Leuven, Oude Markt 13 - bus 5005, 3000, Leuven, Belgium. Christopher.Haiman@med.usc.edu
  • 96 Department of Medicine, McGill University and Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, 687 Pine Avenue West, Montréal, Québec, H3A 1A1, Canada. jacques.simard@crchul.ulaval.ca
  • 97 Department of Medicine, McGill University and Division of Clinical Epidemiology, McGill University Health Centre, Royal Victoria Hospital, 687 Pine Avenue West, Montréal, Québec, H3A 1A1, Canada. mark.goldberg@mcgill.ca
  • 98 Department of Social and Preventive Medicine and Department of Environmental and Occupational Health at Work, University of Montréal, Marguerite d'Youville Pavilion, 2375 Côte Ste-Catherine, Suite 4095, Montréal, Québec, H3T 1A8, Canada. France.Labreche@irsst.qc.ca
  • 99 Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2325 Rue de l'Université, Québec City, Québec, G1V 0A6, Canada. martine.dumont@crchul.ulaval.ca
  • 100 Cancer Genomics Laboratory, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2325 Rue de l'Université, Québec City, Québec, G1V 0A6, Canada. penny.soucy@crchul.ulaval.ca
  • 101 Breast Cancer Research Unit, University of Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia. soohwang.teo@carif.com.my
  • 102 Breast Cancer Research Unit, University of Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia. yipch@um.edu.my
  • 103 Breast Cancer Research Unit, University of Malaya Cancer Research Institute, Faculty of Medicine, University of Malaya, 50603, Kuala Lumpur, Malaysia. szeyee.phuah@carif.com.my
  • 104 Singapore Eye Research Institute, National University of Singapore, Singapore National Eye Centre, 11 Third Hospital Avenue, Singapore, 168751, Singapore. belinda.cornes@gmail.com
  • 105 Department of Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, N-0310, Oslo, Norway. Vessela.N.Kristensen@rr-research.no
  • 106 Faculty of Medicine (Faculty Division Ahus), University of Oslo, Sogn Arena, Klaus Torgårds vei 3, 2. etg, 0372, Oslo, Norway. Grethe.I.Grenaker.Alnas@rr-research.no
  • 107 Department of Genetics, Institute for Cancer Research, Oslo University Hospital, The Norwegian Radium Hospital, N-0310, Oslo, Norway. alb@radium.uio.no
  • 108 Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 1161 21st Ave S # T1217, Nashville, TN, 37232, USA. wei.zheng@Vanderbilt.Edu
  • 109 Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu University Hospital, Kajaanintie 50, 90220, Oulu, Finland. robert.winqvist@oulu.fi
  • 110 Laboratory of Cancer Genetics and Tumor Biology, Department of Clinical Chemistry and Biocenter Oulu, University of Oulu, Oulu University Hospital, Kajaanintie 50, 90220, Oulu, Finland. katri.pylkas@oulu.fi
  • 111 Department of Oncology, Oulu University Hospital, University of Oulu, Kajaanintie 50, 90220, Oulu, Finland. arja.jukkola-vuorinen@ppshp.fi
  • 112 Department of Surgery, Oulu University Hospital, University of Oulu, Kajaanintie 50, 90220, Oulu, Finland. mervi.grip@ppshp.fi
  • 113 Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 982 - 600 University Avenue, Toronto, Ontario, M5G 1X5, Canada. andrulis@lunenfeld.ca
  • 114 Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 982 - 600 University Avenue, Toronto, Ontario, M5G 1X5, Canada. knight@lunenfeld.ca
  • 115 Samuel Lunenfeld Research Institute, Mount Sinai Hospital, 982 - 600 University Avenue, Toronto, Ontario, M5G 1X5, Canada. gglendon@uhnresearch.ca
  • 116 Department of Laboratory Medicine and Pathobiology, University of Toronto, Medical Sciences Building, 6th Floor, 1 King's College Cir, Toronto, Ontario, M5S 1A8, Canada. AnnaMarie.Mulligan@uhn.ca
  • 117 Department of Human Genetics & Department of Pathology, Leiden University Medical Center, Einthovenweg 20, 2333, ZC, Leiden, The Netherlands. p.devilee@lumc.nl
  • 118 Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD, 20850, USA. figueroaj@mail.nih.gov
  • 119 Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD, 20850, USA. chanocks@mail.nih.gov
  • 120 Department of Cancer Epidemiology and Prevention, M. Sklodowska-Curie Memorial Cancer Center & Institute of Oncology, Roentena 5, 02-781, Warsaw, Poland. lissowsj@coi.waw.pl
  • 121 Division of Cancer Epidemiology and Genetics, National Cancer Institute, 9609 Medical Center Drive, Rockville, MD, 20850, USA. shermanm@mail.nih.gov
  • 122 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solnavägen 1, Stockholm, 17177, Sweden. Per.Hall@ki.se
  • 123 Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Solnavägen 1, Stockholm, 17177, Sweden. nils.schoof@ki.se
  • 124 Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, Groene Hilledijk 301, Rotterdam, EA, 3075, The Netherlands. m.hooning@erasmusmc.nl
  • 125 Department of Medical Oncology, Josephine Nefkens Institute, Erasmus University Medical Center, Groene Hilledijk 301, 3075, EA, Rotterdam, The Netherlands. a.hollestelle@erasmusmc.nl
  • 126 Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Groene Hilledijk 301, 3075, EA, Rotterdam, The Netherlands. r.oldenburg@erasmusmc.nl
  • 127 Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, Groene Hilledijk 301, 3075, EA, Rotterdam, The Netherlands. m.tilanus-linthorst@erasmusmc.nl
  • 128 Human Genetics Division, Genome Institute of Singapore, 60 Biopolis St, Singapore, 138672, Singapore. liuj3@gis.a-star.edu.sg
  • 129 Institute for Cancer Studies, Department of Oncology, CRUK/YCR Sheffield Cancer Research Centre, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. a.cox@sheffield.ac.uk
  • 130 Institute for Cancer Studies, Department of Oncology, CRUK/YCR Sheffield Cancer Research Centre, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. i.w.brock@shef.ac.uk
  • 131 Academic Unit of Surgical Oncology, Department of Oncology, CRUK/YCR Sheffield Cancer Research Centre, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. m.w.reed@sheffield.ac.uk
  • 132 Academic Unit of Pathology, Department of Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK. s.s.cross@sheffield.ac.uk
  • 133 Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, 1161 21st Ave S # T1217, Nashville, TN, 37232, USA. william.j.blot@Vanderbilt.Edu
  • 134 Department of Epidemiology, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA, 02115, USA. Signorello@hsph.harvard.edu
  • 135 Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. paul.pharoah@srl.cam.ac.uk
  • 136 Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. amd24@medschl.cam.ac.uk
  • 137 Seoul National University College of Medicine, Yongeon-103 Daehangno, Jongno-gu, Seoul, 110-799, Korea. ms483@medschl.cam.ac.uk
  • 138 Seoul National University College of Medicine, Yongeon-103 Daehangno, Jongno-gu, Seoul, 110-799, Korea. dhkang@snu.ac.kr
  • 139 Seoul National University College of Medicine, Yongeon-103 Daehangno, Jongno-gu, Seoul, 110-799, Korea. dynoh@snu.ac.kr
  • 140 Department of Preventive Medicine, Seoul National University College of Medicine, Yongeon-103 Daehangno, Jongno-gu, Seoul, 110-799, Korea. suepark@snu.ac.kr
  • 141 Seoul National University College of Medicine, Yongeon-103 Daehangno, Jongno-gu, Seoul, 110-799, Korea. jiyeob.choi@gmail.com
  • 142 Department of Surgery, Yong Loo Lin School of Medicine, National University of Singapore, 1E, Kent Ridge Road, Singapore, 119228, Singapore. mikael_hartman@nuhs.edu.sg
  • 143 Department of Epidemiology, Harvard School of Public Health, 677 Huntington Avenue, Boston, MA, 02115, USA. ephmh@nus.edu.sg
  • 144 National University Health System, 1E, Kent Ridge Road, Singapore, 119228, Singapore. ephlwy@nus.edu.sg
  • 145 Division of General Surgery, National University Health System, 1E, Kent Ridge Road, Singapore, 119228, Singapore. Anthony_tang@nuhs.edu.sg
  • 146 Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. u.hamann@dkfz-heidelberg.de
  • 147 Division of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 280, 69120, Heidelberg, Germany. A.Foersti@dkfz-heidelberg.de
  • 148 Institute of Pathology, Städtisches Klinikum Karlsruhe, Moltkestrasse 90, 76133, Karlsruhe, Germany. Thomas.Ruediger@klinikum-karlsruhe.de
  • 149 Frauenklinik der Stadtklinik Baden-Baden, Balger Strasse 50, 76532, Baden-Württemberg, Germany. hu.ulmer@klinikum-mittelbaden.de
  • 150 Department of Genetics and Pathology, Pomeranian Medical University, Rybacka 1, 70-204, Szczecin, Poland. aniaj@sci.pam.szczecin.pl
  • 151 Department of Genetics and Pathology, Pomeranian Medical University, Rybacka 1, 70-204, Szczecin, Poland. lubinski@sci.pam.szczecin.pl
  • 152 Department of Genetics and Pathology, Pomeranian Medical University, Rybacka 1, 70-204, Szczecin, Poland. ka_jaworska@wp.pl
  • 153 Department of Genetics and Pathology, Pomeranian Medical University, Rybacka 1, 70-204, Szczecin, Poland. k.durda@onet.pl
  • 154 National Cancer Institute, 268/1 Rama VI Road, Rajathevi, Bangkok, 10400, Thailand. sulee@health.moph.go.th
  • 155 International Agency for Research on Cancer, 150 Cours Albert Thomas, 69372, Lyon, CEDEX 08, France. gaborieau@iarc.fr
  • 156 International Agency for Research on Cancer, 150 Cours Albert Thomas, 69372, Lyon, CEDEX 08, France. brennan@iarc.fr
  • 157 International Agency for Research on Cancer, 150 Cours Albert Thomas, 69372, Lyon, CEDEX 08, France. mckay@iarc.fr
  • 158 Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. slager.susan@mayo.edu
  • 159 Department of Molecular Virology, Immunology and Medical Genetics, Comprehensive Cancer Center, The Ohio State University, 410 W. 10th Avenue, Columbus, OH, 43210, USA. amanda.toland@osumc.edu
  • 160 Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA. vachon.celine@mayo.edu
  • 161 Molecular Diagnostics Laboratory, IRRP, National Centre for Scientific Research "Demokritos", Aghia Paraskevi Attikis 153 10, Athens, Greece. yannouka@rrp.demokritos.gr
  • 162 College of Public Health, China Medical University, No.91, Hsueh-Shih Road, Taichung, 40402, Taiwan. bmcys@ibms.sinica.edu.tw
  • 163 Department of Surgery, Tri-Service General Hospital, No.325, Sec.2 Chenggong Road, Taipei City 114, Neihu District, Taiwan. doc20106@ndmctsgh.edu.tw
  • 164 Department of Surgery, National Taiwan University Hospital, No.1, Changde Street, Taipei City, 10048, Zhongzheng District, Taiwan. huangcs@ntu.edu.tw
  • 165 Cancer Center, Kaohsiung Medical University Chung-Ho Memorial Hospital, No.100, Tzyou 1st Road, Kaohsiung, 807, Taiwan. mifeho@kmu.edu.tw
  • 166 Human Genotyping-CEGEN Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Calle de Melchor Fernandez Almagro, 3, 28029, Madrid, Spain. agonzalez@cnio.es
  • 167 McGill University and Génome Québec Innovation Centre, 740, Dr. Penfield Avenue, Room 7104, Montréal, Québec, H3A 0G1, Canada. dtessier@genomequebec.com
  • 168 McGill University and Génome Québec Innovation Centre, 740, Dr. Penfield Avenue, Room 7104, Montréal, Québec, H3A 0G1, Canada. daniel.vincent@mail.mcgill.ca
  • 169 McGill University and Génome Québec Innovation Centre, 740, Dr. Penfield Avenue, Room 7104, Montréal, Québec, H3A 0G1, Canada. francois.bacot@mail.mcgill.ca
  • 170 Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. cl533@medschl.cam.ac.uk
  • 171 Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. jgd29@cam.ac.uk
  • 172 Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. km533@medschl.cam.ac.uk
  • 173 Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. mkh39@medschl.cam.ac.uk
  • 174 Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. jccw2@medschl.cam.ac.uk
  • 175 Department of Oncology, Centre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK. dfe20@medschl.cam.ac.uk
  • 176 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK. Montse.GarciaClosas@icr.ac.uk
  • 177 The Academic Department of Biochemistry, The Royal Marsden Hospital, Fulham Road, London, SW3 6JJ, UK. Mitch.Dowsett@icr.ac.uk
  • 178 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK. Alan.Ashworth@icr.ac.uk
  • 179 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK. Anthony.Swerdlow@icr.ac.uk
  • 180 Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT, UK. Julian.Peto@lshtm.ac.uk
  • 181 Non-communicable Disease Epidemiology Department, London School of Hygiene and Tropical Medicine, Keppel Street, London, WC1E 7HT, UK. Isabel.Silva@lshtm.ac.uk
  • 182 Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, 237 Fulham Road, London, SW3 6JB, UK. Olivia.Fletcher@icr.ac.uk
Breast Cancer Res, 2014 May 26;16(3):R51.
PMID: 24887515 DOI: 10.1186/bcr3662

Abstract

INTRODUCTION: We have previously shown that a tag single nucleotide polymorphism (rs10235235), which maps to the CYP3A locus (7q22.1), was associated with a reduction in premenopausal urinary estrone glucuronide levels and a modest reduction in risk of breast cancer in women age ≤50 years.

METHODS: We further investigated the association of rs10235235 with breast cancer risk in a large case control study of 47,346 cases and 47,570 controls from 52 studies participating in the Breast Cancer Association Consortium. Genotyping of rs10235235 was conducted using a custom Illumina Infinium array. Stratified analyses were conducted to determine whether this association was modified by age at diagnosis, ethnicity, age at menarche or tumor characteristics.

RESULTS: We confirmed the association of rs10235235 with breast cancer risk for women of European ancestry but found no evidence that this association differed with age at diagnosis. Heterozygote and homozygote odds ratios (ORs) were OR = 0.98 (95% CI 0.94, 1.01; P = 0.2) and OR = 0.80 (95% CI 0.69, 0.93; P = 0.004), respectively (P(trend) = 0.02). There was no evidence of effect modification by tumor characteristics. rs10235235 was, however, associated with age at menarche in controls (P(trend) = 0.005) but not cases (P(trend) = 0.97). Consequently the association between rs10235235 and breast cancer risk differed according to age at menarche (P(het) = 0.02); the rare allele of rs10235235 was associated with a reduction in breast cancer risk for women who had their menarche age ≥15 years (OR(het) = 0.84, 95% CI 0.75, 0.94; OR(hom) = 0.81, 95% CI 0.51, 1.30; P(trend) = 0.002) but not for those who had their menarche age ≤11 years (OR(het) = 1.06, 95% CI 0.95, 1.19, OR(hom) = 1.07, 95% CI 0.67, 1.72; P(trend) = 0.29).

CONCLUSIONS: To our knowledge rs10235235 is the first single nucleotide polymorphism to be associated with both breast cancer risk and age at menarche consistent with the well-documented association between later age at menarche and a reduction in breast cancer risk. These associations are likely mediated via an effect on circulating hormone levels.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.