Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Nature Publishing Group, 2016
Online
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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access. ; Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 x 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for similar to 11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction. ; info:eu-repo/grantAgreement/EC/FP7/223175 Cancer Research UK C1287/A10118 C1287/A10710 C1281/A12014 C5047/A8384 C5047/A15007 C5047/A10692 C12292/A11174 National Institutes of Health CA116201 CA128978 CA176785 CA192393 National Institutes of Health, Post-Cancer GWAS initiative 1U19 CA148537 1U19 CA148065 1U19 CA148112 National Institutes of Health, GAME-ON initiative Canadian Institutes of Health Research (CIHR) Breast Cancer Res. Foundation Ovarian Cancer Research Fund Department of Defence W81XWH-10-1-0341 Florida Breast Cancer Foundation
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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
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| Autor/in / Beteiligte Person: | Couch, Fergus J. ; Kuchenbaecker, Karoline B. ; Michailidou, Kyriaki ; Mendoza-Fandino, Gustavo A. ; Nord, Silje ; Lilyquist, Janna ; Olswold, Curtis ; Hallberg, Emily ; Agata, Simona ; Ahsan, Habibul ; Aittomäki, Kristiina ; Buys, Saundra S. ; Caldes, Trinidad ; Caligo, Maria A. ; Canzian, Federico ; Carpenter, Jane ; Chang-Claude, Jenny ; Chanock, Stephen J. ; Chung, Wendy K. ; Claes, Kathleen B. M. ; Imyanitov, Evgeny N. ; Richardson, Andrea ; Cox, Angela ; Cross, Simon S. ; Cunningham, Julie M. ; Czene, Kamila ; Daly, Mary B. ; Damiola, Francesca ; Darabi, Hatef ; de la Hoya, Miguel ; Devilee, Peter ; Diez, Orland ; Robson, Mark ; Isaacs, Claudine ; Ding, Yuan C. ; Dolcetti, Riccardo ; Domchek, Susan M. ; Dorfling, Cecilia M. ; dos-Santos-Silva, Isabel ; Dumont, Martine ; Dunning, Alison M. ; Eccles, Diana M. ; Ehrencrona, Hans ; Romieu, Isabelle ; Ekici, Arif B. ; Ambrosone, Christine ; Eliassen, Heather ; Ellis, Steve ; Fasching, Peter A. ; Figueroa, Jonine ; Flesch-Janys, Dieter ; Försti, Asta ; Fostira, Florentia ; Foulkes, William D. ; Rudolph, Anja ; Friebel, Tara ; Friedman, Eitan ; Jakubowska, Anna ; Frost, Debra ; Gabrielson, Marike ; Gammon, Marilie D. ; Ganz, Patricia A. ; Gapstur, Susan M. ; Garber, Judy ; Gaudet, Mia M. ; Rutgers, Emiel J. ; Gayther, Simon A. ; Gerdes, Anne-Marie ; Ghoussaini, Maya ; James, Paul ; Giles, Graham G. ; Glendon, Gord ; Godwin, Andrew K. ; Goldberg, Mark S. ; Goldgar, David E. ; González-Neira, Anna ; Sanchez, Maria-Jose ; Greene, Mark H. ; Gronwald, Jacek ; Guénel, Pascal ; Gunter, Marc ; Janavicius, Ramunas ; Haeberle, Lothar ; Haiman, Christopher A. ; Hamann, Ute ; Hansen, Thomas V. O. ; Hart, Steven ; Santella, Regina M. ; Healey, Sue ; Heikkinen, Tuomas ; Henderson, Brian E. ; Herzog, Josef ; Jensen, Uffe Birk ; John, Esther M. ; Jones, Michael ; Kabisch, Maria ; Kar, Siddhartha ; Karlan, Beth Y. ; Sawyer, Elinor J. ; Khan, Sofia ; Andrulis, Irene L. ; Khaw, Kay-Tee ; Kibriya, Muhammad G. ; Knight, Julia A. ; Ko, Yon-Dschun ; Konstantopoulou, Irene ; Kosma, Veli-Matti ; Kristensen, Vessela ; Kwong, Ava ; Schmidt, Daniel F. ; Laitman, Yael ; Lambrechts, Diether ; Anton-Culver, Hoda ; Lazaro, Conxi ; Lee, Eunjung ; Le Marchand, Loic ; Lester, Jenny ; Lindblom, Annika ; Lindor, Noralane ; Lindstrom, Sara ; Barrowdale, Daniel ; Liu, Jianjun ; Long, Jirong ; Lubinski, Jan ; Arndt, Volker ; Mai, Phuong L. ; Makalic, Enes ; Malone, Kathleen E. ; Mannermaa, Arto ; Manoukian, Siranoush ; Margolin, Sara ; Hogervorst, Frans B. L. ; Marme, Frederik ; Martens, John W. M. ; McGuffog, Lesley ; Meindl, Alfons ; Arun, Banu K. ; Miller, Austin ; Milne, Roger L. ; Miron, Penelope ; Montagna, Marco ; Mazoyer, Sylvie ; Schmidt, Marjanka K. ; Mulligan, Anna M. ; Muranen, Taru A. ; Nathanson, Katherine L. ; Neuhausen, Susan L. ; Nevanlinna, Heli ; Arver, Brita ; Nordestgaard, Børge G. ; Nussbaum, Robert L. ; Offit, Kenneth ; Olah, Edith ; Schmutzler, Rita K. ; Olopade, Olufunmilayo I. ; Olson, Janet E. ; Osorio, Ana ; Park, Sue K. ; Peeters, Petra H. ; Peissel, Bernard ; Barile, Monica ; Peterlongo, Paolo ; Peto, Julian ; Phelan, Catherine M. ; Schumacher, Fredrick ; Pilarski, Robert ; Poppe, Bruce ; Pylkäs, Katri ; Radice, Paolo ; Rahman, Nazneen ; Rantala, Johanna ; Rappaport, Christine ; Barkardottir, Rosa B. ; Rennert, Gad ; Scott, Rodney ; Senter, Leigha ; Sharma, Priyanka ; Simard, Jacques ; Singer, Christian F. ; Sinilnikova, Olga M. ; Soucy, Penny ; Hollestelle, Antoinette ; Beckmann, Lars ; Southey, Melissa ; Steinemann, Doris ; Stenmark-Askmalm, Marie ; Stoppa-Lyonnet, Dominique ; Swerdlow, Anthony ; Szabo, Csilla I. ; Tamimi, Rulla ; Tapper, William ; Teixeira, Manuel R. ; Hooning, Maartje J. ; Teo, Soo-Hwang ; Beckmann, Matthias W. ; Terry, Mary B. ; Thomassen, Mads ; Thompson, Deborah ; Tihomirova, Laima ; Toland, Amanda E. ; Tollenaar, Robert A. E. M. ; Tomlinson, Ian ; Truong, Thérèse ; Hoover, Robert N. ; Tsimiklis, Helen ; Teulé, Alex ; Benitez, Javier ; Tumino, Rosario ; Tung, Nadine ; Turnbull, Clare ; Ursin, Giski ; van Deurzen, Carolien H. M. ; van Rensburg, Elizabeth J. ; Varon-Mateeva, Raymonda ; Hopper, John L. ; Wang, Zhaoming ; Wang-Gohrke, Shan ; Weiderpass, Elisabete ; Blank, Stephanie V. ; Weitzel, Jeffrey N. ; Whittemore, Alice ; Wildiers, Hans ; Winqvist, Robert ; Yang, Xiaohong R. ; Yannoukakos, Drakoulis ; Humphreys, Keith ; Yao, Song ; Zamora, M Pilar ; Zheng, Wei ; Hall, Per ; Blomqvist, Carl ; Kraft, Peter ; Vachon, Celine ; Slager, Susan ; Chenevix-Trench, Georgia ; Pharoah, Paul D. P. ; Hunter, David J. ; Monteiro, Alvaro A. 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Carlos, Mol Oncol Lab, Madrid 28040, Spain 39 Univ Pisa, Dept Lab Med, Sect Genet Oncol, I-56126 Pisa, Italy 40 Univ Hosp Pisa, I-56126 Pisa, Italy 41 German Canc Res Ctr, Genom Epidemiol Grp, D-69120 Heidelberg, Germany 42 Univ Sydney, Westmead Millennium Inst, Australian Breast Canc Tissue Bank, Sydney, NSW 2145, Australia 43 German Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany 44 NCI, Div Canc Epidemiol & Genet, Rockville, MD 20850 USA 45 Columbia Univ, Dept Pediat, New York, NY 10032 USA 46 Columbia Univ, Dept Med, New York, NY 10032 USA 47 Univ Ghent, Ctr Med Genet, B-9000 Ghent, Belgium 48 Univ Sheffield, Dept Oncol, Sheffield Canc Res Ctr, Sheffield S10 2RX, S Yorkshire, England 49 Univ Sheffield, Acad Unit Pathol, Dept Neurosci, Sheffield S10 2HQ, S Yorkshire, England 50 Karolinska Inst, Dept Med Epidemiol & Biostat, SE-17177 Stockholm, Sweden 51 Fox Chase Canc Ctr, Dept Clin Genet, Philadelphia, PA 19111 USA 52 Univ Lyon, CNRS, UMR5286, Ctr Rech Cancerol Lyon,INSERM,U1052, F-69373 Lyon, France 53 Leiden Univ, Med Ctr, Dept Human Genet, NL-2333 ZC Leiden, Netherlands 54 Leiden Univ, Med Ctr, Dept Pathol, NL-2333 ZC Leiden, Netherlands 55 Univ Hosp Vall dHebron, VHIO, Oncogenet Grp, Barcelona 08035, Spain 56 Univ Autonoma Barcelona, Barcelona 08035, Spain 57 City Hope Natl Med Ctr, Beckman Res Inst, Dept Populat Sci, Duarte, CA 91010 USA 58 CRO Aviano Natl Canc Inst, Canc Bioimmunotherapy Unit, I-33081 Aviano, Italy 59 Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA 60 Univ Pretoria, Dept Genet, ZA-0007 Pretoria, South Africa 61 Univ London London Sch Hyg & Trop Med, Dept Non Communicable Dis Epidemiol, Keppel St, London WC1E 7HT, England 62 Ctr Hosp Univ Quebec, Canc Genom Lab, Quebec City, PQ G1V 4G2, Canada 63 Univ Laval, Quebec City, PQ G1V 4G2, Canada 64 Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England 65 Univ Southampton, Southampton Univ Hosp, Fac Med, Southampton SO16 6YD, Hants, England 66 Uppsala Univ, Dept Immunol Genet & Pathol, SE-75185 Uppsala, Sweden 67 Univ Lund Hosp, Dept Clin Genet, SE-22185 Lund, Sweden 68 Univ Erlangen Nurnberg, Univ Hosp Erlangen, Inst Human Genet, D-91054 Erlangen, Germany 69 Comprehens Canc Ctr EMN, D-91054 Erlangen, Germany 70 Brigham & Womens Hosp, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA 71 Harvard Univ, Sch Med, Boston, MA 02115 USA 72 Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA 73 Univ Clin Hamburg Eppendorf, Clin Canc Registry, Dept Canc Epidemiol, D-20246 Hamburg, Germany 74 Univ Clin Hamburg Eppendorf, Inst Med Biometr & Epidemiol, D-20246 Hamburg, Germany 75 German Canc Res Ctr, Div Mol Genet Epidemiol, D-69120 Heidelberg, Germany 76 Lund Univ, Ctr Primary Hlth Care Res, SE-22100 Malmo, Sweden 77 Natl Ctr Sci Res Demokritos, INRASTES, Mol Diagnost Lab, Athens 15310, Greece 78 McGill Univ, Program Canc Genet, Montreal, PQ H3A 0G4, Canada 79 Univ Philadelphia, 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Genet Community Res Network, Clin Canc Genet, Duarte, CA 91010 USA 104 Netherlands Canc Inst, Family Canc Clin, NL-1000 BE Amsterdam, Netherlands 105 Erasmus MC Canc Inst, Dept Med Oncol, NL-3008 AE Rotterdam, Netherlands 106 Erasmus Univ, Med Ctr, Family Canc Clin, Dept Med Oncol, NL-3008 AE Rotterdam, Netherlands 107 Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Biostat & Epidemiol, Melbourne, Vic 3010, Australia 108 Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, 665 Huntington Ave, Boston, MA 02115 USA 109 NN Petrov Oncol Res Inst, St Petersburg 197758, Russia 110 Georgetown Univ, Lombardi Comprehens Canc Ctr, Washington, DC 20007 USA 111 Peter MacCallum Canc Ctr, Familial Canc Ctr, Melbourne, Vic 8006, Australia 112 Univ Melbourne, Dept Oncol, Melbourne, Vic 8006, Australia 113 State Res Inst, Ctr Innovat Med, LT-08661 Vilnius, Lithuania 114 Aarhus Univ Hosp, Dept Clin Genet, DK-8200 Aarhus N, Denmark 115 Canc Prevent Inst Calif, Dept Epidemiol, Fremont, CA 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England 152 Fdn Ist FIRC Oncol Mol, IFOM, I-20133 Milan, Italy 153 Ohio State Univ, Ctr Comprehens Canc, Dept Internal Med, Div Human Genet, Columbus, OH 43210 USA 154 Univ Oulu, NordLab Oulu, Oulu Univ Hosp, Lab Canc Genet & Tumor Biol,Dept Clin Chem, FI-90220 Oulu, Finland 155 Univ Oulu, NordLab Oulu, Oulu Univ Hosp, Lab Canc Genet & Tumor Biol,Dept Clin Chem, FI-90220 Oulu, Finland 156 Univ Oulu, NordLab Oulu, Oulu Univ Hosp, Lab Canc Genet & Tumor Biol,Bioctr Oulu, FI-90220 Oulu, Finland 157 Fdn IRCCS Ist Nazl Tumori INT, Dept Prevent & Predict Med, Unit Mol Bases Genet Risk & Genet Testing, I-20133 Milan, Italy 158 Inst Canc Res, Sect Canc Genet, Sutton SM2 5NG, Surrey, England 159 Karolinska Univ Hosp, Dept Clin Genet, SE-17176 Stockholm, Sweden 160 Med Univ Vienna, Ctr Comprehens Canc, Dept Obstet & Gynecol, A-1090 Vienna, Austria 161 Clalit Natl Israeli Canc Control Ctr, IL-34362 Haifa, Israel 162 Carmel Hosp, Dept Community Med & Epidemiol, IL-34362 Haifa, Israel 163 B 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Quebec City, PQ G1V 4G2, Canada 177 Hosp Civils Lyon, Ctr Leon Berard, Unite Mixte Genet Constitut Canc Frequents, F-69373 Lyon, France 178 Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia 179 Hannover Med Sch, D-30625 Hannover, Germany 180 Linkoping Univ, Dept Clin & Expt Med, Div Clin Genet, SE-58185 Linkoping, Sweden 181 Inst Curie, Dept Tumour Biol, F-75248 Paris, France 182 Univ Paris 05, Sorbonne Paris Cite, F-75248 Paris, France 183 NHGRI, NIH, Bethesda, MD 20892 USA 184 Portuguese Oncol Inst, Dept Genet, P-4200072 Oporto, Portugal 185 Univ Porto, Biomed Sci Inst ICBAS, P-4200072 Oporto, Portugal 186 Canc Res Initiat Fdn, Sime Darby Med Ctr, Subang Jaya 47500, Malaysia 187 Univ Malaya, Med Ctr, Canc Res Inst, Fac Med, Kuala Lumpur 50603, Malaysia 188 Columbia Univ, Mailman Sch Publ Hlth, Dept Epidemiol, New York, NY 10032 USA 189 Odense Univ Hosp, Dept Clin Genet, DK-5000 Odense C, Denmark 190 Latvian Biomed Res & Study Ctr, LV-1067 Riga, Latvia 191 Ohio State Univ, Dept Mol Virol Immunol & Med Genet, Columbus, OH 43210 USA 192 Leiden Univ, Med Ctr, Dept Surg Oncol, NL-2333 ZC Leiden, Netherlands 193 Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England 194 Univ Oxford, Oxford Biomed Res Ctr, Oxford OX3 7BN, England 195 IDIBELL Catalan Inst Oncol, Hereditary Canc Program, Genet Counseling Unit, Barcelona 08908, Spain 196 Civ MP Arezzo Hosp, Canc Registry, I-97100 Asp Ragusa, Italy 197 Civ MP Arezzo Hosp, Histopathol Unit, I-97100 Asp Ragusa, Italy 198 Beth Israel Deaconess Med Ctr, Dept Med Oncol, Boston, MA 02215 USA 199 Inst Populat Based Canc Res, Canc Registry Norway, N-0304 Oslo, Norway 200 Erasmus Univ, Med Ctr, Family Canc Clin, Dept Pathol, NL-3000 CA Rotterdam, Netherlands 201 Charite, Inst Human Genet, D-13353 Berlin, Germany 202 NCI, Canc Genom Res Lab, Div Canc Epidemiol & Genet, Gaithersburg, MD 20877 USA 203 Univ Hosp Ulm, D-89075 Ulm, Germany 204 Univ Tromso, Fac Hlth Sci, Dept Community Med, N-9037 Tromso, Norway 205 Folkhalsan Res Ctr, Genet Epidemiol Grp, Helsinki 2016, Finland 206 Stanford Univ, Sch Med, Dept Hlth Res Policy Epidemiol, Stanford, CA 94305 USA 207 Univ Hosp, Dept Gen Med Oncol, Multidisciplinary Breast Ctr, B-3000 Leuven, Belgium 208 NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA 209 Hosp Univ La Paz, Med Oncol Serv, Madrid 28046, Spain 210 Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA 211 QIMR Berghofer Med Res Inst, Canc Div, Brisbane, Qld 4029, Australia 212 NCI, Div Canc Epidemiol & Genet, NIH, Rockville, MD 20850 USA |
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| Veröffentlichung: | Nature Publishing Group, 2016 |
| Medientyp: | academicJournal |
| ISSN: | 2041-1723 (print) |
| DOI: | 10.1038/ncomms11375 |
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