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Repisalud author Couch, Fergus J author Kuchenbaecker, Karoline B author Michailidou, Kyriaki author Mendoza-Fandino, Gustavo A author Nord, Silje author Lilyquist, Janna author Olswold, Curtis author Hallberg, Emily author Agata, Simona author Ahsan, Habibul author Aittomäki, Kristiina author Ambrosone, Christine author Andrulis, Irene L author Anton-Culver, Hoda author Arndt, Volker author Arun, Banu K author Arver, Brita author Barile, Monica author Barkardottir, Rosa B author Barrowdale, Daniel author Beckmann, Lars author Beckmann, Matthias W author Benitez, Javier author Blank, Stephanie V author Blomqvist, Carl author Bogdanova, Natalia V author Bojesen, Stig E author Bolla, Manjeet K author Bonanni, Bernardo author Brauch, Hiltrud author Brenner, Hermann author Burwinkel, Barbara author Buys, Saundra S author Caldes, Trinidad author Caligo, Maria A author Canzian, Federico author Carpenter, Jane author Chang-Claude, Jenny author Chanock, Stephen J author Chung, Wendy K author Claes, Kathleen B M author Cox, Angela author Cross, Simon S author Cunningham, Julie M author Czene, Kamila author Daly, Mary B author Damiola, Francesca author Darabi, Hatef author de la Hoya, Miguel author Devilee, Peter author Diez, Orland author Ding, Yuan C author Dolcetti, Riccardo author Domchek, Susan M author Dorfling, Cecilia M author Dos-Santos-Silva, Isabel author Dumont, Martine author Dunning, Alison M author Eccles, Diana M author Ehrencrona, Hans author Ekici, Arif B author Eliassen, Heather author Ellis, Steve author Fasching, Peter A author Figueroa, Jonine author Flesch-Janys, Dieter author Försti, Asta author Fostira, Florentia author Foulkes, William D author Friebel, Tara author Friedman, Eitan author Frost, Debra author Gabrielson, Marike author Gammon, Marilie D author Ganz, Patricia A author Gapstur, Susan M author Garber, Judy author Gaudet, Mia M author Gayther, Simon A author Gerdes, Anne-Marie author Ghoussaini, Maya author Giles, Graham G author Glendon, Gord author Godwin, Andrew K author Goldberg, Mark S author Goldgar, David E author González-Neira A, Anna author Greene, Mark H author Gronwald, Jacek author Guénel, Pascal author Gunter, Marc author Haeberle, Lothar author Haiman, Christopher A author Hamann, Ute author Hansen, Thomas V O author Hart, Steven author Healey, Sue author Heikkinen, Tuomas author Henderson, Brian E author Herzog, Josef author Hogervorst, Frans B L author Hollestelle, Antoinette author Hooning, Maartje J author Hoover, Robert N author Hopper, John L author Humphreys, Keith author Hunter, David J author Huzarski, Tomasz author Imyanitov, Evgeny N author Isaacs, Claudine author Jakubowska, Anna author James, Paul author Janavicius, Ramunas author Jensen, Uffe Birk author John, Esther M author Jones, Michael author Kabisch, Maria author Kar, Siddhartha author Karlan, Beth Y author Khan, Sofia author Khaw, Kay-Tee author Kibriya, Muhammad G author Knight, Julia A author Ko, Yon-Dschun author Konstantopoulou, Irene author Kosma, Veli-Matti author Kristensen, Vessela author Kwong, Ava author Laitman, Yael author Lambrechts, Diether author Lazaro, Conxi author Lee, Eunjung author Le Marchand, Loic author Lester, Jenny author Lindblom, Annika author Lindor, Noralane author Lindstrom, Sara author Liu, Jianjun author Long, Jirong author Lubinski, Jan author Mai, Phuong L author Makalic, Enes author Malone, Kathleen E author Mannermaa, Arto author Manoukian, Siranoush author Margolin, Sara author Marme, Frederik author Martens, John W M author McGuffog, Lesley author Meindl, Alfons author Miller, Austin author Milne, Roger L author Miron, Penelope author Montagna, Marco author Mazoyer, Sylvie author Mulligan, Anna M author Muranen, Taru A author Nathanson, Katherine L author Neuhausen, Susan L author Nevanlinna, Heli author Nordestgaard, Børge G author Nussbaum, Robert L author Offit, Kenneth author Olah, Edith author Olopade, Olufunmilayo I author Olson, Janet E author Osorio, Ana author Park, Sue K author Peeters, Petra H author Peissel, Bernard author Peterlongo, Paolo author Peto, Julian author Phelan, Catherine M author Pilarski, Robert author Poppe, Bruce author Pylkäs, Katri author Radice, Paolo author Rahman, Nazneen author Rantala, Johanna author Rappaport, Christine author Rennert, Gad author Richardson, Andrea author Robson, Mark author Romieu, Isabelle author Rudolph, Anja author Rutgers, Emiel J author Sanchez, Maria-Jose author Santella, Regina M author Sawyer, Elinor J author Schmidt, Daniel F author Schmidt, Marjanka K author Schmutzler, Rita K author Schumacher, Fredrick author Scott, Rodney author Senter, Leigha author Sharma, Priyanka author Simard, Jacques author Singer, Christian F author Sinilnikova, Olga M author Soucy, Penny author Southey, Melissa author Steinemann, Doris author Stenmark-Askmalm, Marie author Stoppa-Lyonnet, Dominique author Swerdlow, Anthony author Szabo, Csilla I author Tamimi, Rulla author Tapper, William author Teixeira, Manuel R author Teo, Soo-Hwang author Terry, Mary B author Thomassen, Mads author Thompson, Deborah author Tihomirova, Laima author Toland, Amanda E author Tollenaar, Robert A E M author Tomlinson, Ian author Truong, Thérèse author Tsimiklis, Helen author Teulé, Alex author Tumino, Rosario author Tung, Nadine author Turnbull, Clare author Ursin, Giski author van Deurzen, Carolien H M author van Rensburg, Elizabeth J author Varon-Mateeva, Raymonda author Wang, Zhaoming author Wang-Gohrke, Shan author Weiderpass, Elisabete author Weitzel, Jeffrey N author Whittemore, Alice author Wildiers, Hans author Winqvist, Robert author Yang, Xiaohong R author Yannoukakos, Drakoulis author Yao, Song author Zamora, M Pilar author Zheng, Wei author Hall, Per author Kraft, Peter author Vachon, Celine author Slager, Susan author Chenevix-Trench, Georgia author Pharoah, Paul D P author Monteiro, Alvaro A N author García-Closas, Montserrat author Easton, Douglas F author Antoniou, Antonis C funder Unión Europea. Comisión Europea. 7 Programa Marco funder Cancer Research UK (Reino Unido) funder National Institutes of Health (Estados Unidos) funder Canadian Institutes of Health Research funder Florida Breast Cancer Foundation (Estados Unidos) 2019-07-08T10:55:47Z 2019-07-08T10:55:47Z 2016 Nat Commun. 2016;7:11375. 10.1038/ncomms11375 2041-1723 2041-1723 Nature communications 27117709 http://hdl.handle.net/20.500.12105/7867 Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 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 ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction. eng Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer journal article 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 URL https://repisalud.isciii.es/bitstreams/68993d04-364c-47cd-a874-12942894f51f/download File MD5 7431a99d614a6707baa89a3c9ccfed25 994658 application/pdf Identificationoffournovelsusceptibility_2016.pdf URL https://repisalud.isciii.es/bitstreams/85ccb942-0930-4c01-8c7e-fb38b2f0f10f/download File MD5 dffc854b71bd697a3bfc96451205d0a1 3993173 application/pdf Identification of four novel susceptibility_2016_image1.pdf URL https://repisalud.isciii.es/bitstreams/5bd65570-b392-4263-9d53-a86ec1c984c2/download File MD5 04d2472908fb5270b8a724b9209e4fe0 86268 text/plain Identificationoffournovelsusceptibility_2016.pdf.txt URL https://repisalud.isciii.es/bitstreams/5ffa17ec-7dd8-4387-9008-d451b229fdb4/download File MD5 fcea114a3bbe3d50d0dc75f51182a646 164905 text/plain Identification of four novel susceptibility_2016_image1.pdf.txt