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M. Ferreira, E. Gamazon, F. Al-Ejeh, K. Aittomäki, I. Andrulis, H. Anton-Culver, A. Arason, V. Arndt, K. Aronson, B. Arun, E. Asseryanis, J. Azzollini, J. Balmaña, D. Barnes, D. Barrowdale, M. Beckmann, S. Behrens, J. Benítez, M. Bermisheva, K. Białkowska, C. Blomqvist, N. Bogdanova, S. Bojesen, M. Bolla, Å. Borg, H. Brauch, H. Brenner, A. Broeks, B. Burwinkel, T. Caldés, M. Caligo, D. Campa, I. Campbell, F. Canzian, J. Carter, B. Carter, J. Castelao, J. Chang-Claude, S. Chanock, H. Christiansen, W. Chung, K. Claes, C. Clarke, Julian Munaza Julian Angela Carole Jackie Rosemarie Alan Adlard Ahmed Barwell Brady Brewer Cook Davidson Do, J. Adlard, Munaza Ahmed, J. Barwell, A. Brady, C. Brewer, J. Cook, R. Davidson, A. Donaldson, J. Eason, R. Eeles, D. Evans, H. Gregory, H. Hanson, A. Henderson, S. Hodgson, L. Izatt, M. J. Kennedy, F. Lalloo, Clare B Miller, Patrick J. Morrison, K. Ong, Jo Perkins, M. Porteous, M. Rogers, L. Side, K. Snape, L. Walker, P. Harrington, Norbert Bernd Nadja Julika Almuth Nina Bernd Stefanie Ulri Arnold Auber Bogdanova-Markov Borde Caliebe Ditsch, N. Arnold, B. Auber, Nadja Bogdanova-Markov, J. Borde, A. Caliebe, N. Ditsch, B. Dworniczak, S. Engert, U. Faust, A. Gehrig, E. Hahnen, J. Hauke, J. Hentschel, N. Herold, E. Honisch, W. Just, K. Kast, M. Larsen, JohannesR. Lemke, Huu P. Nguyen, D. Niederacher, C. Ott, K. Platzer, E. Pohl-Rescigno, J. Ramser, K. Rhiem, D. Steinemann, C. Sutter, R. Varon‐Mateeva, S. Wang-gohrke, B. Weber, Fabienne Pascal Charlotte Nicolas Hagay Johanna Dominique L Prieur Pujol Sagne Sevenet Sobol Sokolowska Stoppa, F. Prieur, P. Pujol, C. Sagne, N. Sevenet, H. Sobol, Johanna Sokolowska, D. Stoppa-Lyonnet, L. Venat-Bouvet, F. Couch, A. Cox, S. Cross, K. Czene, M. Daly, M. de la Hoya, J. Dennis, P. Devilee, O. Díez, T. Dörk, A. Dunning, M. Dwek, D. Eccles, B. Ejlertsen, Carolina Ellberg, C. Engel, M. Eriksson, P. Fasching, O. Fletcher, H. Flyger, E. Friedman, D. Frost, M. Gabrielson, M. Gago-Domínguez, P. Ganz, S. Gapstur, J. Garber, M. García-Closas, J. García-Saenz, M. Gaudet, G. Giles, G. Glendon, A. Godwin, M. Goldberg, D. Goldgar, A. González-Neira, M. Greene, J. Gronwald, P. Guénel, C. Haiman, P. Hall, U. Hamann, Wei He, J. Heyworth, F. Hogervorst, A. Hollestelle, R. Hoover, J. Hopper, P. Hulick, K. Humphreys, E. Imyanitov, Rosemary Robert Stephen Jane Jane John Soon C Deborah Adrie Balleine Baxter Braye Carpenter Dahlstrom Forbes L, R. Balleine, R. Baxter, S. Braye, Jane E. Carpenter, J. Dahlstrom, J. Forbes, Soon-Cheol Lee, Deb Marsh, A. Morey, N. Pathmanathan, Peter Simpson, A. Spigelman, N. Wilcken, D. Yip, Bernadette A. M. Matti A. Caroline M. Frederieke H. Annemieke Heemskerk-Gerritsen Rookus Seynaeve van der Baan v, B. Heemskerk-Gerritsen, M. Rookus, C. Seynaeve, Frederieke H van der Baan, A. H. van der Hout, L. van der Kolk, R. B. van der Luijt, C. V. van Deurzen, H. V. van Doorn, K. van Engelen, L. V. van Hest, T. V. van Os, S. Verhoef, M. Vogel, J. Wijnen, Alexander Miroslav Anita Eric Saundra S. Thomas A. Miron Kapuscinski Bane Ross Buys Conner, A. Miron, M. Kapuscinski, A. Bane, Eric Ross, S. Buys, T. Conner, C. Isaacs, M. Jakimovska, A. Jakubowska, P. James, R. Janavicius, R. Jankowitz, E. John, N. Johnson, V. Joseph, B. Karlan, E. Khusnutdinova, J. Kiiski, Y. Ko, Michael E. Jones, I. Konstantopoulou, V. Kristensen, Y. Laitman, D. Lambrechts, C. Lázaro, Goska Leslie, J. Lester, F. Lesueur, S. Lindström, J. Long, J. Loud, J. Lubiński, E. Makalic, A. Mannermaa, M. Manoochehri, S. Margolin, T. Maurer, D. Mavroudis, L. McGuffog, A. Meindl, U. Menon, K. Michailidou, Austin Miller, M. Montagna, F. Moreno, L. Moserle, A. Mulligan, K. Nathanson, S. Neuhausen, H. Nevanlinna, I. Nevelsteen, F. Nielsen, L. Nikitina-Zake, R. Nussbaum, K. Offit, E. Oláh, O. Olopade, H. Olsson, A. Osorio, J. Papp, T. Park-Simon, M. Parsons, I. Pedersen, Ana Peixoto, P. Peterlongo, P. Pharoah, D. Plaseska‐Karanfilska, B. Poppe, N. Presneau, P. Radice, Johanna Rantala, G. Rennert, H. Risch, E. Saloustros, K. Sanden, E. Sawyer, M. Schmidt, R. Schmutzler, Priyanka Sharma, X. Shu, J. Simard, C. Singer, P. Soucy, M. Southey, J. Spinelli, A. Spurdle, J. Stone, A. Swerdlow, W. Tapper, Jack A. Taylor, M. Teixeira, M. Terry, A. Teule, M. Thomassen, K. Thöne, D. Thull, M. Tischkowitz, A. Toland, Diana Torres, Thérèse Truong, N. Tung, C. Vachon, C. V. van Asperen, A. V. D. van den Ouweland, E. J. van Rensburg, A. Vega, A. Viel, Qin Wang, B. Wappenschmidt, J. Weitzel, Camilla Wendt, R. Winqvist, Xiaohong R. Yang, D. Yannoukakos, A. Ziogas, P. Kraft, A. Antoniou, W. Zheng, D. Easton, R. Milne, J. Beesley, G. Chenevix-Trench
106 15. 4. 2019.

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in non-breast tissues, specifically adipose tissue and immune cells from blood and spleen. Using expression quantitative trait loci (eQTL) reported in these tissues, we identify 26 previously unreported, likely target genes of overall breast cancer risk variants, and 17 for estrogen receptor (ER)-negative breast cancer, several with a known immune function. We determine the directional effect of gene expression on disease risk measured based on single and multiple eQTL. In addition, using a gene-based test of association that considers eQTL from multiple tissues, we identify seven (and four) regions with variants associated with overall (and ER-negative) breast cancer risk, which were not reported in previous GWAS. Further investigation of the function of the implicated genes in breast and immune cells may provide insights into the etiology of breast cancer. Over 170 susceptibility loci have been identified by genome-wide association studies in breast cancer. Here, the authors interrogated the role of risk-associated variants from non-breast tissue, and using expression quantitative trait loci, identify potential target genes of known breast cancer susceptibility variants, as well as 11 regions not previously known to be associated with breast cancer risk.


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