Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

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 loc...

ver descrição completa

Detalhes bibliográficos
Autores: 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, Ambrosone, Christine B., Andrulis, Irene L.|||0000-0002-4226-6435, Anton-Culver, Hoda, Arndt, Volker|||0000-0001-9320-8684, Arun, Banu K., Arver, Brita, Barile, Monica, Barkardottir, Rosa B., Barrowdale, Daniel|||0000-0003-1661-3939, Beckmann, Lars, Beckmann, Matthias W., Benitez, Javier|||0000-0002-0923-7202, Blank, Stephanie V., Blomqvist, Carl, Bogdanova, Natalia V., Bojesen, Stig E., Bolla, Manjeet K.|||0000-0002-4351-9326, Bonanni, Bernardo|||0000-0003-3589-2128, Brauch, Hiltrud|||0000-0001-7531-2736, Brenner, Hermann, Burwinkel, Barbara, Buys, Saundra|||0000-0003-4120-5697, Caldes, Trinidad, Caligo, Maria|||0000-0003-0589-1829, Canzian, Federico|||0000-0002-4261-4583, Carpenter, Jane, Chang-Claude, Jenny, Chanock, Stephen|||0000-0002-2324-3393, Chung, Wendy, Claes, Kathleen|||0000-0003-0841-7372, Cox, Angela, Cross, Simon S., Cunningham, Julie M., Czene, Kamila, Daly, Mary B., Damiola, Francesca, Darabi, Hatef, De la Hoya, Miguel|||0000-0002-8113-1410, Devilee, Peter|||0000-0002-8023-2009, Diez, Orland|||0000-0001-7339-0570, Ding, Yuan C., Dolcetti, Riccardo, Domchek, Susan M.|||0000-0002-5914-7272, Dorfling, Cecilia M., dos-Santos-Silva, Isabel, Dumont, Martine, Dunning, Alison M., Eccles, Diana M.|||0000-0002-9935-3169, Ehrencrona, Hans|||0000-0002-5589-3622, Ekici, Arif B., Eliassen, Heather, Ellis, Steve, Fasching, Peter A., Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta|||0000-0002-9857-4728, Fostira, Florentia, Foulkes, William|||0000-0001-7427-4651, Friebel, Tara, Friedman, Eitan|||0000-0002-6745-1733, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D., Ganz, Patricia A., Gapstur, Susan M., Garber, Judy, Gaudet, Mia M., Gayther, Simon A.|||0000-0001-7937-5443, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G., Glendon, Gord, Godwin, Andrew K.|||0000-0002-3987-9580, Goldberg, Mark S., Goldgar, David E., González-Neira, Anna, Greene, Mark H.|||0000-0003-1852-9239, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A., Hamann, Ute|||0000-0001-6705-7624, Hansen, Thomas V. O., Hart, Steven, Healey, Sue, Heikkinen, Tuomas|||0000-0003-1154-6204, Henderson, Brian E., Herzog, Josef, Hogervorst, Frans B. L., Hollestelle, Antoinette, Hooning, Maartje J., Hoover, Robert, Hopper, John L., Humphreys, Keith, Hunter, David J., Huzarski, Tomasz, Imyanitov, Evgeny N., Isaacs, Claudine|||0000-0002-9646-1260, Jakubowska, Anna|||0000-0002-5650-0501, James, Paul|||0000-0002-4361-4657, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M., Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y.|||0000-0002-9451-2933, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G., Knight, Julia A., Ko, Yon-Dschun, Konstantopoulou, Irene|||0000-0002-0470-0309, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lázaro García, Conxi|||0000-0002-7198-5906, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun|||0000-0002-3255-3019, Long, Jirong, Lubinski, Jan|||0000-0003-2931-3003, Mai, Phuong L., Makalic, Enes, Malone, Kathleen E., Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W. M., McGuffog, Lesley|||0000-0003-1237-0546, Meindl, Alfons, Miller, Austin|||0000-0001-9739-8462, Milne, Roger L.|||0000-0001-5764-7268, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M., Muranen, Taru A.|||0000-0002-5895-1808, Nathanson, Katherine L.|||0000-0002-6740-0901, Neuhausen, Susan L.|||0000-0001-5053-0390, Nevanlinna, Heli|||0000-0002-0916-2976, Nordestgaard, Børge G.|||0000-0002-1954-7220, Nussbaum, Robert L.|||0000-0003-3445-8880, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I.|||0000-0002-9936-1599, Olson, Janet E., Osorio, Ana|||0000-0001-8124-3984, Park, Sue K., Peeters, Petra H., Peissel, Bernard|||0000-0001-9233-3571, Peterlongo, Paolo|||0000-0001-6951-6855, Peto, Julian|||0000-0002-1685-8912, Phelan, Catherine M., Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo|||0000-0001-6298-4111, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad|||0000-0002-8512-068X, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J., Sánchez Pérez, María José|||0000-0003-4817-0757, Santella, Regina M., Sawyer, Elinor J., Schmidt, Daniel F., Schmidt, Marjanka K.|||0000-0002-2228-429X, Schmutzler, Rita K., Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques|||0000-0001-6906-3390, Singer, Christian F., Sinilnikova, Olga M., Soucy, Penny, Southey, Melissa C.|||0000-0002-6313-9005, Steinemann, Doris|||0000-0001-8797-0816, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I., Tamimi, Rulla, Tapper, William, Teixeira, Manuel R.|||0000-0002-4896-5982, Teo, Soo|||0000-0002-0444-590X, Terry, Mary Beth, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda Ewart|||0000-0002-0271-1792, Tollenaar, Robert A. E. M., Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teule, Alex|||0000-0003-0028-7200, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H. M., van Rensburg, Elizabeth J.|||0000-0003-2077-230X, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N., Whittemore, Alice S., Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R., Yannoukakos, Drakoulis, Yao, Song, Zamora Auñon, Maria del Pilar|||0000-0003-2631-9653, Zheng, Wei|||0000-0003-1226-070X, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan|||0000-0002-5173-4712, Chenevix-Trench, Georgia, Pharoah, Paul D. P.|||0000-0001-8494-732X, Monteiro, Alvaro A. N., García-Closas, Montserrat, Easton, Douglas F.|||0000-0003-2444-3247, Antoniou, Antonis C.
Formato: artículo
Fecha de publicación:2016
País:España
Recursos:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:254139
Acesso em linha:https://ddd.uab.cat/record/254139
https://dx.doi.org/urn:doi:10.1038/ncomms11375
Access Level:acceso abierto
Descrição
Resumo: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. Oestrogen negative breast cancer is associated with a poor prognosis. In this study, the authors perform a meta-analysis of 11 breast cancer genome-wide association studies and identify four new loci associated with oestrogen negative breast cancer risk. These findings may aid in stratifying patients in the clinic.