| Authors: |
Milne, R. L.; Kuchenbaecker, K. B.; Michailidou, K.; Beesley, J.; Kar, S.; Lindström, S.; Hui, S.; Lemaçon, A.; Soucy, P.; Dennis, J.; Jiang, X.; Rostamianfar, A.; Finucane, H.; Bolla, M. K.; McGuffog, L.; Wang, Q.; Aalfs, C. M.; ABCTB Investigators; Adams, M.; Adlard, J.; Agata, S.; Ahmed, S.; Ahsan, H.; Aittomäki, K.; Al-Ejeh, F.; Allen, J.; Ambrosone, C. B.; Amos, C. I.; Andrulis, I. L.; Anton-Culver, H.; Antonenkova, N. N.; Arndt, V.; Arnold, N.; Aronson, K. J.; Auber, B.; Auer, P. L.; Ausems, M. G. E. M.; Azzollini, J.; Bacot, F.; Balmaña, F.; Barile, M.; Barjhoux, L.; Barkardottir, R. B.; Barrdahl, M.; Barnes, D.; Barrowdale, D.; Baynes, C.; Beckmann, M. W.; Benitez, J.; Bermisheva, M.; Bernstein, L.; Bignon, Y. J.; Blazer, K. R.; Blok, M. J.; Blomqvist, C.; Blot, W.; Bobolis, K.; Boeckx, B.; Bogdanova, N. V.; Bojesen, A.; Bojesen, S. E.; Bonanni, B.; Børresen-Dale, A. L.; Bozsik, A.; Bradbury, A. R.; Brand, J. S.; Brauch, H.; Brenner, H.; Bressac-de Paillerets, B.; Brewer, C.; Brinton, L.; Broberg, P.; Brooks-Wilson, A.; Brunet, J.; Brüning, T.; Burwinkel, B.; Buys, S. S.; Byun, J.; Cai, Q.; Caldés, T.; Caligo, M. A.; Campbell, I.; Canzian, F.; Caron, O.; Carracedo, A.; Carter, B. D.; Castelao, J. E.; Castera, L.; Caux-Moncoutier, V.; Chan, S. B.; Chang-Claude, J.; Chanock, S. J.; Chen, X.; Cheng, T. Y. D.; Chiquette, J.; Christiansen, H.; Claes, K. B.; Clarke, C. L.; Conner, T.; Conroy, D. M.; Cook, J.; Cordina-Duverger, E.; Cornelissen, S.; Coupier, I.; Cox, A.; Cox, D. G.; Cross, S. S.; Cuk, K.; Cunningham, J. M.; Czene, K.; Daly, M. B.; Damiola, F.; Darabi, H.; Davidson, R.; De Leeneer, K.; Devilee, P.; Dicks, E.; Diez, O.; Ding, Y. C.; Ditsch, N.; Doheny, K. F.; Domchek, S. M.; Dorfling, C. M.; Dörk, T.; dos-Santos-Silva, I.; Dubois, S.; Dugué, P. A.; Dumont, M.; Dunning, A. M.; Durcan, L.; Dwek, M.; Dworniczak, B.; Eccles, D.; Eeles, R.; Ehrencrona, H.; Eilber, U.; Ejlertsen, B.; Ekici, A. B.; Eliassen, A. H.; EMBRACE; Engel, C.; Eriksson, M.; Fachal, L.; Faivre, L.; Fasching, P. A.; Faust, U.; Figueroa, J.; Flesch-Janys, D.; Fletcher, O.; Flyger, H.; Foulkes, W. D.; Friedman, E.; Fritschi, L.; Frost, D.; Gabrielson, M.; Gaddam, P.; Gammon, M. D.; Ganz, P. A.; Gapstur, S. M.; Garber, J.; Garcia-Barberan, V.; Garciá-Saénz, J. A.; Gaudet, M. M.; Gauthier-Villars, M.; Gehrig, A.; GEMO Study Collaborators; Georgoulias, V.; Gerdes, A. M.; Giles, G. G.; Glendon, G.; Godwin, A. K.; Goldberg, M. S.; Goldgar, D. E.; González-Neira, A.; Goodfellow, P.; Greene, M. H.; Grenaker Alnæs, G. I.; Grip, M.; Gronwald, J.; Grundy, A.; Gschwantler-Kaulich, D.; Guénel, P.; Guo, Q.; Haeberle, L.; Hahnen, E.; Haiman, C. A.; Håkansson, N.; Hallberg, E.; Hamann, U.; Hamel, N.; Hankinson, S.; Hansen, T. V. O.; Harrington, P.; Hart, S. N.; Hartikainen, J. M.; Healey, C. S.; HEBON; Hein, A.; Helbig, S.; Henderson, A.; Heyworth, J.; Hicks, B.; Hillemanns, P.; Hodgson, S.; Hogervorst, F. B.; Hollestelle, A.; Hooning, M. J.; Hoover, B.; Hopper, J. L.; Hu, C.; Huang, G.; Hulick, P. J.; Humphreys, K.; Hunter, D. J.; Imyanitov, E. N.; Isaacs, C.; Iwasaki, M.; Izatt, L.; Jakubowska, A.; James, P.; Janavicius, R.; Janni, W.; Birk Jensen, U.; John, E. M.; Johnson, N.; Jones, K.; Jones, M.; Jukkola-Vuorinen, A.; Kaaks, R.; Kabisch, M.; Kaczmarek, K.; Kang, D.; Kast, K.; kConFab/AOCS Investigators; Keeman, R.; Kerin, M. J.; Kets, C. M.; Keupers, M. H.; Khan, S.; Khusnutdinova, E.; Kiiski, J. I.; Kim, S. W.; Knight, J. A.; Konstantopoulou, I.; Kosma, V. M.; Kristensen, V. N.; Kruse, T. A.; Kwong, A.; Lænkholm, A. V.; Laitman, Y.; Lalloo, F.; Lambrechts, D.; Landsman, K.; Lasset, C.; Lazaro, C.; Le Marchand, L.; Lecarpentier, J.; Lee, A.; Lee, E.; Lee, J. W.; Lee, M. H.; Lejbkowicz, F.; Lesueur, F.; Li, J.; Lilyquist, J.; Lincoln, A.; Lindblom, A.; Lissowska, J.; Lo, W. Y.; Loibl, S.; Long, J.; Loud, J. T.; Lubinski, J.; Luccarini, C.; Lush, M.; MacInnis, R. J.; Maishman, T.; Makalic, E.; Maleva Kostovska, I.; Malone, K. E.; Manoukian, S.; Manson, J. E.; Margolin, S.; Martens, J. W. M.; Martinez, M. E.; Matsuo, K.; Mavroudis, D.; Mazoyer, S.; McLean, C.; Meijers-Heijboer, H.; Menéndez, P.; Meyer, J.; Miao, H.; Miller, A.; Miller, N.; Milne, R. L.; Mitchell, G.; Montagna, M.; Muir, K.; Mulligan, A. M.; Mulot, C.; Nadesan, S.; Nathanson, K. L.; NBSC Collaborators; Neuhausen, S. L.; Nevanlinna, H.; Nevelsteen, I.; Niederacher, D.; Nielsen, S. F.; Nordestgaard, B. G.; Norman, A.; Nussbaum, R. L.; Olah, E.; Olopade, O. I.; Olson, J. E.; Olswold, C.; Ong, K. R.; Oosterwijk, J. C.; Orr, N.; Osorio, A.; Pankratz, V. S.; Papi, L.; Park-Simon, T. W.; Paulsson-Karlsson, Y.; Lloyd, R.; Pedersen, I. S.; Peissel, B.; Peixoto, A.; Perez, J. I.; Peterlongo, P.; Peto, J.; Pfeiler, G.; Phelan, C. M.; Pinchev, M.; Plaseska-Karanfilska, D.; Poppe, B.; Porteous, M. E.; Prentice, R.; Presneau, N.; Prokofieva, D.; Pugh, E.; Pujana, M. A.; Pylkäs, K.; Rack, B.; Radice, P.; Rahman, N.; Rantala, J.; Rappaport-Fuerhauser, C.; Rennert, G.; Rennert, H. S.; Rhenius, V.; Rhiem, K.; Richardson, A.; Rodriguez, G. C.; Romero, A.; Romm, J.; Rookus, M. A.; Rudolph, A.; Ruediger, T.; Saloustros, E.; Sanders, J.; Sandler, D. P.; Sangrajrang, S.; Sawyer, E. J.; Schmidt, D. F.; Schoemaker, M. J.; Schumacher, F.; Schürmann, P.; Schwentner, L.; Scott, C.; Scott, R. J.; Seal, S.; Senter, L.; Seynaeve, C.; Shah, M.; Sharma, P.; Shen, C. Y.; Sheng, X.; Shimelis, H.; Shrubsole, M. J.; Shu, X. O.; Side, L. E.; Singer, C. F.; Sohn, C.; Southey, M. C.; Spinelli, J. J.; Spurdle, A. B.; Stegmaier, C.; Stoppa-Lyonnet, D.; Sukiennicki, G.; Surowy, H.; Sutter, C.; Swerdlow, A.; Szabo, C. I.; Tamimi, R. M.; Tan, Y. Y.; Taylor, J. A.; Tejada, M. I.; Tengström, M.; Teo, S. H.; Terry, M. B.; Tessier, D. C.; Teulé, A.; Thöne, K.; Thull, D. L.; Tibiletti, M. G.; Tihomirova, L.; Tischkowitz, M.; Toland, A. E.; Tollenaar, R. A. E. M.; Tomlinson, I.; Tong, L.; Torres, D.; Tranchant, M.; Truong, T.; Tucker, K.; Tung, N.; Tyrer, J.; Ulmer, H. U.; Vachon, C.; van Asperen, C. J.; Van Den Berg, D.; van den Ouweland, A. M.; van Rensburg, E. J.; Varesco, L.; Varon-Mateeva, R.; Vega, A.; Viel, A.; Vijai, J.; Vincent, D.; Vollenweider, J.; Walker, L.; Wang, Z.; Wang-Gohrke, S.; Wappenschmidt, B.; Weinberg, C. R.; Weitzel, J. N.; Wendt, C.; Wesseling, J.; Whittemore, A. S.; Wijnen, J. T.; Willett, W.; Winqvist, R.; Wolk, A.; Wu, A. H.; Xia, L.; Yang, X. R.; Yannoukakos, D.; Zaffaroni, D.; Zheng, W.; Zhu, B.; Ziogas, A.; Ziv, E.; Zorn, K. K.; Gago-Dominguez, M.; Mannermaa, A.; Olsson, H.; Teixeira, M. R.; Stone, J.; Offit, K.; Ottini, L.; Park, S. K.; Thomassen, M.; Hall, P.; Meindl, A.; Schmutzler, R. K.; Droit, A.; Bader, G. D.; Pharoah, P. D.; Couch, F. J.; Easton, D. F.; Kraft, P.; Chenevix-Trench, G.; Garciá-Closas, M.; Schmidt, M. K.; Antoniou, A. C.; Simard, J. |
| Article Title: |
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer |
| Abstract: |
Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease1. We conducted a GWAS using 21,468 ER-negative cases and 100,594 controls combined with 18,908 BRCA1 mutation carriers (9,414 with breast cancer), all of European origin. We identified independent associations at P < 5 × 10-8 with ten variants at nine new loci. At P < 0.05, we replicated associations with 10 of 11 variants previously reported in ER-negative disease or BRCA1 mutation carrier GWAS and observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies. These 125 variants explain approximately 16% of the familial risk of this breast cancer subtype. There was high genetic correlation (0.72) between risk of ER-negative breast cancer and breast cancer risk for BRCA1 mutation carriers. These findings may lead to improved risk prediction and inform further fine-mapping and functional work to better understand the biological basis of ER-negative breast cancer. |
| Keywords: |
adult; controlled study; middle aged; unclassified drug; gene mutation; human cell; major clinical study; promoter region; single nucleotide polymorphism; case control study; genetics; mutation; polymorphism, single nucleotide; cancer risk; metabolism; cancer susceptibility; genetic predisposition to disease; nuclear protein; cohort analysis; genetic association; genetic variability; genotype; gene frequency; genome-wide association study; risk factors; breast neoplasms; brca1 protein; heterozygote; retrospective study; risk factor; genome analysis; genetic susceptibility; breast tumor; atm protein; receptors, estrogen; genetic risk; estrogen receptor; computer model; tumor gene; genetic predisposition; european continental ancestry group; quantitative trait locus; cyclin e; caucasian; heritability; genetic correlation; ethnology; enhancer region; gene replication; meta analysis (topic); procedures; haplotype map; cyclic amp responsive element binding protein binding protein; cyclin e1; humans; human; female; priority journal; article; estrogen receptor negative breast cancer; atrogin 1; nuclear protein ataxia telangiectasia; adcy3 gene; adcy9 gene; anxa13 gene; cdh2 gene; kdelc2 gene; l3mbtl3 gene; ncoa1 gene; rpl23ap53 gene; tspan16 gene
|
| Journal Title: |
Nature Genetics
|
| Volume: |
49 |
| Issue: |
12 |
| ISSN: |
1061-4036 |
| Publisher: |
Nature Publishing Group
|
| Date Published: |
2017-10-23 |
| Start Page: |
1767 |
| End Page: |
1778 |
| Language: |
English |
| DOI: |
10.1038/ng.3785
|
| PUBMED: |
29058716
|
| PROVIDER: |
scopus
|
| PMCID: |
PMC5808456
|
| DOI/URL: |
|
| Notes: |
Article -- Export Date: 2 January 2018 -- Source: Scopus |
