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 loci...

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Detalles 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, Andrulis, Irene L, Anton-Culver, Hoda, Arndt, Volker, Arun, Banu K, Arver, Brita, Barile, Monica, Barkardottir, Rosa B, Barrowdale, Daniel, Beckmann, Lars, Beckmann, Matthias W, Benitez, Javier, Blank, Stephanie V, Blomqvist, Carl, Bogdanova, Natalia V, Bojesen, Stig E, Bolla, Manjeet K, Bonanni, Bernardo, Brauch, Hiltrud, Brenner, Hermann, Burwinkel, Barbara, 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, 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, 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, Ekici, Arif B, Eliassen, Heather, Ellis, Steve, Fasching, Peter A, Figueroa, Jonine, Flesch-Janys, Dieter, Försti, Asta, Fostira, Florentia, Foulkes, William D, Friebel, Tara, Friedman, Eitan, Frost, Debra, Gabrielson, Marike, Gammon, Marilie D, Ganz, Patricia A, Gapstur, Susan M, Garber, Judy, Gaudet, Mia M, Gayther, Simon A, Gerdes, Anne-Marie, Ghoussaini, Maya, Giles, Graham G, Glendon, Gord, Godwin, Andrew K, Goldberg, Mark S, Goldgar, David E, González-Neira A, Anna, Greene, Mark H, Gronwald, Jacek, Guénel, Pascal, Gunter, Marc, Haeberle, Lothar, Haiman, Christopher A, Hamann, Ute, Hansen, Thomas V O, Hart, Steven, Healey, Sue, Heikkinen, Tuomas, Henderson, Brian E, Herzog, Josef, Hogervorst, Frans B L, Hollestelle, Antoinette, Hooning, Maartje J, Hoover, Robert N, Hopper, John L, Humphreys, Keith, Hunter, David J, Huzarski, Tomasz, Imyanitov, Evgeny N, Isaacs, Claudine, Jakubowska, Anna, James, Paul, Janavicius, Ramunas, Jensen, Uffe Birk, John, Esther M, Jones, Michael, Kabisch, Maria, Kar, Siddhartha, Karlan, Beth Y, Khan, Sofia, Khaw, Kay-Tee, Kibriya, Muhammad G, Knight, Julia A, Ko, Yon-Dschun, Konstantopoulou, Irene, Kosma, Veli-Matti, Kristensen, Vessela, Kwong, Ava, Laitman, Yael, Lambrechts, Diether, Lazaro, Conxi, Lee, Eunjung, Le Marchand, Loic, Lester, Jenny, Lindblom, Annika, Lindor, Noralane, Lindstrom, Sara, Liu, Jianjun, Long, Jirong, Lubinski, Jan, Mai, Phuong L, Makalic, Enes, Malone, Kathleen E, Mannermaa, Arto, Manoukian, Siranoush, Margolin, Sara, Marme, Frederik, Martens, John W M, McGuffog, Lesley, Meindl, Alfons, Miller, Austin, Milne, Roger L, Miron, Penelope, Montagna, Marco, Mazoyer, Sylvie, Mulligan, Anna M, Muranen, Taru A, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nordestgaard, Børge G, Nussbaum, Robert L, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I, Olson, Janet E, Osorio, Ana, Park, Sue K, Peeters, Petra H, Peissel, Bernard, Peterlongo, Paolo, Peto, Julian, Phelan, Catherine M, Pilarski, Robert, Poppe, Bruce, Pylkäs, Katri, Radice, Paolo, Rahman, Nazneen, Rantala, Johanna, Rappaport, Christine, Rennert, Gad, Richardson, Andrea, Robson, Mark, Romieu, Isabelle, Rudolph, Anja, Rutgers, Emiel J, Sanchez, Maria-Jose, Santella, Regina M, Sawyer, Elinor J, Schmidt, Daniel F, Schmidt, Marjanka K, Schmutzler, Rita K, Schumacher, Fredrick, Scott, Rodney, Senter, Leigha, Sharma, Priyanka, Simard, Jacques, Singer, Christian F, Sinilnikova, Olga M, Soucy, Penny, Southey, Melissa, Steinemann, Doris, Stenmark-Askmalm, Marie, Stoppa-Lyonnet, Dominique, Swerdlow, Anthony, Szabo, Csilla I, Tamimi, Rulla, Tapper, William, Teixeira, Manuel R, Teo, Soo-Hwang, Terry, Mary B, Thomassen, Mads, Thompson, Deborah, Tihomirova, Laima, Toland, Amanda E, Tollenaar, Robert A E M, Tomlinson, Ian, Truong, Thérèse, Tsimiklis, Helen, Teulé, Alex, Tumino, Rosario, Tung, Nadine, Turnbull, Clare, Ursin, Giski, van Deurzen, Carolien H M, van Rensburg, Elizabeth J, Varon-Mateeva, Raymonda, Wang, Zhaoming, Wang-Gohrke, Shan, Weiderpass, Elisabete, Weitzel, Jeffrey N, Whittemore, Alice, Wildiers, Hans, Winqvist, Robert, Yang, Xiaohong R, Yannoukakos, Drakoulis, Yao, Song, Zamora, M Pilar, Zheng, Wei, Hall, Per, Kraft, Peter, Vachon, Celine, Slager, Susan, Chenevix-Trench, Georgia, Pharoah, Paul D P, Monteiro, Alvaro A N, García-Closas, Montserrat, Easton, Douglas F, Antoniou, Antonis C
Tipo de recurso: artículo
Fecha de publicación:2016
País:España
Institución:Instituto de Salud Carlos III (ISCIII)
Repositorio:Repisalud
Idioma:inglés
OAI Identifier:oai:repisalud.isciii.es:20.500.12105/7867
Acceso en línea:http://hdl.handle.net/20.500.12105/7867
Access Level:acceso abierto
Palabra clave:BRCA1 Protein
Breast Neoplasms
Chromosomes, Human, Pair 2
Cyclophilins
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Heterozygote
Humans
Mutation
Polymorphism, Single Nucleotide
Receptors, Estrogen
Risk Factors
tRNA Methyltransferases
Descripción
Sumario: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.

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