Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Genome wide association studies (GWAS) and large scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS comprising of 15,748...

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Detalles Bibliográficos
Autores principales: Michailidou, Kyriaki, Beesley, Jonathan, Lindstrom, Sara, Canisius, Sander, Dennis, Joe, Lush, Michael, Maranian, Mel J, Bolla, Manjeet K, Wang, Qin, Shah, Mitul, Perkins, Barbara J, Czene, Kamila, Eriksson, Mikael, Darabi, Hatef, Brand, Judith S, Bojesen, Stig E, Nordestgaard, Børge G, Flyger, Henrik, Nielsen, Sune F, Rahman, Nazneen, Turnbull, Clare, Fletcher, Olivia, Peto, Julian, Gibson, Lorna, dos-Santos-Silva, Isabel, Chang-Claude, Jenny, Flesch-Janys, Dieter, Rudolph, Anja, Eilber, Ursula, Behrens, Sabine, Nevanlinna, Heli, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Khan, Sofia, Aaltonen, Kirsimari, Ahsan, Habibul, Kibriya, Muhammad G, Whittemore, Alice S, John, Esther M, Malone, Kathleen E, Gammon, Marilie D, Santella, Regina M, Ursin, Giske, Makalic, Enes, Schmidt, Daniel F, Casey, Graham, Hunter, David J, Gapstur, Susan M, Gaudet, Mia M, Diver, W Ryan, Haiman, Christopher A, Schumacher, Fredrick, Henderson, Brian E, Le Marchand, Loic, Berg, Christine D, Chanock, Stephen, Figueroa, Jonine, Hoover, Robert N, Lambrechts, Diether, Neven, Patrick, Wildiers, Hans, van Limbergen, Erik, Schmidt, Marjanka K, Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Couch, Fergus J, Olson, Janet E, Hallberg, Emily, Vachon, Celine, Waisfisz, Quinten, Meijers-Heijboer, Hanne, Adank, Muriel A, van der Luijt, Rob B, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Kang, Daehee, Choi, Ji-Yeob, Park, Sue K, Yoo, Keun-Young, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Tajima, Kazuo, Guénel, Pascal, Truong, Thérèse, Mulot, Claire, Sanchez, Marie, Burwinkel, Barbara, Marme, Frederik, Surowy, Harald, Sohn, Christof, Wu, Anna H, Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O, González-Neira, Anna, Benitez, Javier, Zamora, M Pilar, Perez, Jose Ignacio Arias, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Cross, Simon S, Reed, Malcolm WR, Andrulis, Irene L, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Sawyer, Elinor J, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Lindblom, Annika, Margolin, Sara, Teo, Soo Hwang, Yip, Cheng Har, Taib, Nur Aishah Mohd, TAN, Gie-Hooi, Hooning, Maartje J, Hollestelle, Antoinette, Martens, John WM, Collée, J Margriet, Blot, William, Signorello, Lisa B, Cai, Qiuyin, Hopper, John L, Southey, Melissa C, Tsimiklis, Helen, Apicella, Carmel, Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Hou, Ming-Feng, Kristensen, Vessela N, Nord, Silje, Alnaes, Grethe I Grenaker, Giles, Graham G, Milne, Roger L, McLean, Catriona, Canzian, Federico, Trichopoulos, Dmitrios, Peeters, Petra, Lund, Eiliv, Sund, Malin, Khaw, Kay-Tee, Gunter, Marc J, Palli, Domenico, Mortensen, Lotte Maxild, Dossus, Laure, Huerta, Jose-Maria, Meindl, Alfons, Schmutzler, Rita K, Sutter, Christian, Yang, Rongxi, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Hartman, Mikael, Miao, Hui, Chia, Kee Seng, Chan, Ching Wan, Fasching, Peter A, Hein, Alexander, Beckmann, Matthias W, Haeberle, Lothar, Brenner, Hermann, Dieffenbach, Aida Karina, Arndt, Volker, Stegmaier, Christa, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J, Swerdlow, Anthony J, Brinton, Louise, Garcia-Closas, Montserrat, Zheng, Wei, Halverson, Sandra L, Shrubsole, Martha, Long, Jirong, Goldberg, Mark S, Labrèche, France, Dumont, Martine, Winqvist, Robert, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Brauch, Hiltrud, Hamann, Ute, Brüning, Thomas, Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Bernard, Loris, Bogdanova, Natalia V, Dörk, Thilo, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Devilee, Peter, Tollenaar, Robert AEM, Seynaeve, Caroline, Van Asperen, Christi J, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Huzarski, Tomasz, Sangrajrang, Suleeporn, Gaborieau, Valerie, Brennan, Paul, McKay, James, Slager, Susan, Toland, Amanda E, Ambrosone, Christine B, Yannoukakos, Drakoulis, Kabisch, Maria, Torres, Diana, Neuhausen, Susan L, Anton-Culver, Hoda, Luccarini, Craig, Baynes, Caroline, Ahmed, Shahana, Healey, Catherine S, Tessier, Daniel C, Vincent, Daniel, Bacot, Francois, Pita, Guillermo, Alonso, M Rosario, Álvarez, Nuria, Herrero, Daniel, Simard, Jacques, Pharoah, Paul PDP, Kraft, Peter, Dunning, Alison M, Chenevix-Trench, Georgia, Hall, Per, Easton, Douglas F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549775/
https://www.ncbi.nlm.nih.gov/pubmed/25751625
http://dx.doi.org/10.1038/ng.3242
Descripción
Sumario:Genome wide association studies (GWAS) and large scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ~14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS comprising of 15,748 breast cancer cases and 18,084 controls, and 46,785 cases and 42,892 controls from 41 studies genotyped on a 200K custom array (iCOGS). Analyses were restricted to women of European ancestry. Genotypes for more than 11M SNPs were generated by imputation using the 1000 Genomes Project reference panel. We identified 15 novel loci associated with breast cancer at P<5×10(−8). Combining association analysis with ChIP-Seq data in mammary cell lines and ChIA-PET chromatin interaction data in ENCODE, we identified likely target genes in two regions: SETBP1 on 18q12.3 and RNF115 and PDZK1 on 1q21.1. One association appears to be driven by an amino-acid substitution in EXO1.

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