Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/29997
Title: Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.
Authors: 
Milne, Roger L
Kuchenbaecker, Karoline B
Michailidou, Kyriaki
Beesley, Jonathan
Kar, Siddhartha
Lindström, Sara
Hui, Shirley
Lemaçon, Audrey
Soucy, Penny
Dennis, Joe
Jiang, Xia
Rostamianfar, Asha
Finucane, Hilary
Bolla, Manjeet K
McGuffog, Lesley
Wang, Qin
Aalfs, Cora M
Adams, Marcia
Adlard, Julian
Agata, Simona
Ahmed, Shahana
Ahsan, Habibul
Aittomäki, Kristiina
Al-Ejeh, Fares
Allen, Jamie
Ambrosone, Christine B
Amos, Christopher I
Andrulis, Irene L
Anton-Culver, Hoda
Antonenkova, Natalia N
Arndt, Volker
Arnold, Norbert
Aronson, Kristan J
Auber, Bernd
Auer, Paul L
Ausems, Margreet G E M
Azzollini, Jacopo
Bacot, François
Balmaña, Judith
Barile, Monica
Barjhoux, Laure
Barkardottir, Rosa B
Barrdahl, Myrto
Barnes, Daniel
Barrowdale, Daniel
Baynes, Caroline
Beckmann, Matthias W
Benitez, Javier
Bermisheva, Marina
Bernstein, Leslie
Bignon, Yves-Jean
Blazer, Kathleen R
Blok, Marinus J
Blomqvist, Carl
Blot, William
Bobolis, Kristie
Boeckx, Bram
Bogdanova, Natalia V
Bojesen, Anders
Bojesen, Stig E
Bonanni, Bernardo
Børresen-Dale, Anne-Lise
Bozsik, Aniko
Bradbury, Angela R
Brand, Judith S
Brauch, Hiltrud
Brenner, Hermann
Bressac-de Paillerets, Brigitte
Brewer, Carole
Brinton, Louise
Broberg, Per
Brooks-Wilson, Angela
Brunet, Joan
Brüning, Thomas
Burwinkel, Barbara
Buys, Saundra S
Byun, Jinyoung
Cai, Qiuyin
Caldés, Trinidad
Caligo, Maria A
Campbell, Ian
Canzian, Federico
Caron, Olivier
Carracedo, Angel
Carter, Brian D
Castelao, J Esteban
Castera, Laurent
Caux-Moncoutier, Virginie
Chan, Salina B
Chang-Claude, Jenny
Chanock, Stephen J
Chen, Xiaoqing
Cheng, Ting-Yuan David
Chiquette, Jocelyne
Christiansen, Hans
Claes, Kathleen B M
Clarke, Christine L
Conner, Thomas
Conroy, Don M
Cook, Jackie
Cordina-Duverger, Emilie
Cornelissen, Sten
Coupier, Isabelle
Cox, Angela
Cox, David G
Cross, Simon S
Cuk, Katarina
Cunningham, Julie M
Czene, Kamila
Daly, Mary B
Damiola, Francesca
Darabi, Hatef
Davidson, Rosemarie
De Leeneer, Kim
Devilee, Peter
Dicks, Ed
Diez, Orland
Ding, Yuan Chun
Ditsch, Nina
Doheny, Kimberly F
Domchek, Susan M
Dorfling, Cecilia M
Dörk, Thilo
Dos-Santos-Silva, Isabel
Dubois, Stéphane
Dugué, Pierre-Antoine
Dumont, Martine
Dunning, Alison M
Durcan, Lorraine
Dwek, Miriam
Dworniczak, Bernd
Eccles, Diana
Eeles, Ros
Ehrencrona, Hans
Eilber, Ursula
Ejlertsen, Bent
Ekici, Arif B
Eliassen, A Heather
Engel, Christoph
Eriksson, Mikael
Fachal, Laura
Faivre, Laurence
Fasching, Peter A
Faust, Ulrike
Figueroa, Jonine
Flesch-Janys, Dieter
Fletcher, Olivia
Flyger, Henrik
Foulkes, William D
Friedman, Eitan
Fritschi, Lin
Frost, Debra
Gabrielson, Marike
Gaddam, Pragna
Gammon, Marilie D
Ganz, Patricia A
Gapstur, Susan M
Garber, Judy
Garcia-Barberan, Vanesa
García-Sáenz, José A
Gaudet, Mia M
Gauthier-Villars, Marion
Gehrig, Andrea
Georgoulias, Vassilios
Gerdes, Anne-Marie
Giles, Graham G
Glendon, Gord
Godwin, Andrew K
Goldberg, Mark S
Goldgar, David E
González-Neira, Anna
Goodfellow, Paul
Greene, Mark H
Alnæs, Grethe I Grenaker
Grip, Mervi
Gronwald, Jacek
Grundy, Anne
Gschwantler-Kaulich, Daphne
Guénel, Pascal
Guo, Qi
Haeberle, Lothar
Hahnen, Eric
Haiman, Christopher A
Håkansson, Niclas
Hallberg, Emily
Hamann, Ute
Hamel, Nathalie
Hankinson, Susan
Hansen, Thomas V O
Harrington, Patricia
Hart, Steven N
Hartikainen, Jaana M
Healey, Catherine S
Hein, Alexander
Helbig, Sonja
Henderson, Alex
Heyworth, Jane
Hicks, Belynda
Hillemanns, Peter
Hodgson, Shirley
Hogervorst, Frans B
Hollestelle, Antoinette
Hooning, Maartje J
Hoover, Bob
Hopper, John L
Hu, Chunling
Huang, Guanmengqian
Hulick, Peter J
Humphreys, Keith
Hunter, David J
Imyanitov, Evgeny N
Isaacs, Claudine
Iwasaki, Motoki
Izatt, Louise
Jakubowska, Anna
James, Paul
Janavicius, Ramunas
Janni, Wolfgang
Jensen, Uffe Birk
John, Esther M
Johnson, Nichola
Jones, Kristine
Jones, Michael
Jukkola-Vuorinen, Arja
Kaaks, Rudolf
Kabisch, Maria
Kaczmarek, Katarzyna
Kang, Daehee
Kast, Karin
Keeman, Renske
Kerin, Michael J
Kets, Carolien M
Keupers, Machteld
Khan, Sofia
Khusnutdinova, Elza
Kiiski, Johanna I
Kim, Sung-Won
Knight, Julia A
Konstantopoulou, Irene
Kosma, Veli-Matti
Kristensen, Vessela N
Kruse, Torben A
Kwong, Ava
Lænkholm, Anne-Vibeke
Laitman, Yael
Lalloo, Fiona
Lambrechts, Diether
Landsman, Keren
Lasset, Christine
Lazaro, Conxi
Le Marchand, Loic
Lecarpentier, Julie
Lee, Andrew
Lee, Eunjung
Lee, Jong Won
Lee, Min Hyuk
Lejbkowicz, Flavio
Lesueur, Fabienne
Li, Jingmei
Lilyquist, Jenna
Lincoln, Anne
Lindblom, Annika
Lissowska, Jolanta
Lo, Wing-Yee
Loibl, Sibylle
Long, Jirong
Loud, Jennifer T
Lubinski, Jan
Luccarini, Craig
Lush, Michael
MacInnis, Robert J
Maishman, Tom
Makalic, Enes
Kostovska, Ivana Maleva
Malone, Kathleen E
Manoukian, Siranoush
Manson, JoAnn E
Margolin, Sara
Martens, John W M
Martinez, Maria Elena
Matsuo, Keitaro
Mavroudis, Dimitrios
Mazoyer, Sylvie
McLean, Catriona
Meijers-Heijboer, Hanne
Menéndez, Primitiva
Meyer, Jeffery
Miao, Hui
Miller, Austin
Miller, Nicola
Mitchell, Gillian
Montagna, Marco
Muir, Kenneth
Mulligan, Anna Marie
Mulot, Claire
Nadesan, Sue
Nathanson, Katherine L
Neuhausen, Susan L
Nevanlinna, Heli
Nevelsteen, Ines
Niederacher, Dieter
Nielsen, Sune F
Nordestgaard, Børge G
Norman, Aaron
Nussbaum, Robert L
Olah, Edith
Olopade, Olufunmilayo I
Olson, Janet E
Olswold, Curtis
Ong, Kai-Ren
Oosterwijk, Jan C
Orr, Nick
Osorio, Ana
Pankratz, V Shane
Papi, Laura
Park-Simon, Tjoung-Won
Paulsson-Karlsson, Ylva
Lloyd, Rachel
Pedersen, Inge Søkilde
Peissel, Bernard
Peixoto, Ana
Perez, Jose I A
Peterlongo, Paolo
Peto, Julian
Pfeiler, Georg
Phelan, Catherine M
Pinchev, Mila
Plaseska-Karanfilska, Dijana
Poppe, Bruce
Porteous, Mary E
Prentice, Ross
Presneau, Nadege
Prokofieva, Darya
Pugh, Elizabeth
Pujana, Miquel Angel
Pylkäs, Katri
Rack, Brigitte
Radice, Paolo
Rahman, Nazneen
Rantala, Johanna
Rappaport-Fuerhauser, Christine
Rennert, Gad
Rennert, Hedy S
Rhenius, Valerie
Rhiem, Kerstin
Richardson, Andrea
Rodriguez, Gustavo C
Romero, Atocha
Romm, Jane
Rookus, Matti A
Rudolph, Anja
Ruediger, Thomas
Saloustros, Emmanouil
Sanders, Joyce
Sandler, Dale P
Sangrajrang, Suleeporn
Sawyer, Elinor J
Schmidt, Daniel F
Schoemaker, Minouk J
Schumacher, Fredrick
Schürmann, Peter
Schwentner, Lukas
Scott, Christopher
Scott, Rodney J
Seal, Sheila
Senter, Leigha
Seynaeve, Caroline
Shah, Mitul
Sharma, Priyanka
Shen, Chen-Yang
Sheng, Xin
Shimelis, Hermela
Shrubsole, Martha J
Shu, Xiao-Ou
Side, Lucy E
Singer, Christian F
Sohn, Christof
Southey, Melissa C
Spinelli, John J
Spurdle, Amanda B
Stegmaier, Christa
Stoppa-Lyonnet, Dominique
Sukiennicki, Grzegorz
Surowy, Harald
Sutter, Christian
Swerdlow, Anthony
Szabo, Csilla I
Tamimi, Rulla M
Tan, Yen Y
Taylor, Jack A
Tejada, Maria-Isabel
Tengström, Maria
Teo, Soo H
Terry, Mary B
Tessier, Daniel C
Teulé, Alex
Thöne, Kathrin
Thull, Darcy L
Tibiletti, Maria Grazia
Tihomirova, Laima
Tischkowitz, Marc
Toland, Amanda E
Tollenaar, Rob A E M
Tomlinson, Ian
Tong, Ling
Torres, Diana
Tranchant, Martine
Truong, Thérèse
Tucker, Kathy
Tung, Nadine
Tyrer, Jonathan
Ulmer, Hans-Ulrich
Vachon, Celine
van Asperen, Christi J
Van Den Berg, David
van den Ouweland, Ans M W
van Rensburg, Elizabeth J
Varesco, Liliana
Varon-Mateeva, Raymonda
Vega, Ana
Viel, Alessandra
Vijai, Joseph
Vincent, Daniel
Vollenweider, Jason
Walker, Lisa
Wang, Zhaoming
Wang-Gohrke, Shan
Wappenschmidt, Barbara
Weinberg, Clarice R
Weitzel, Jeffrey N
Wendt, Camilla
Wesseling, Jelle
Whittemore, Alice S
Wijnen, Juul T
Willett, Walter
Winqvist, Robert
Wolk, Alicja
Wu, Anna H
Xia, Lucy
Yang, Xiaohong R
Yannoukakos, Drakoulis
Zaffaroni, Daniela
Zheng, Wei
Zhu, Bin
Ziogas, Argyrios
Ziv, Elad
Zorn, Kristin K
Gago-Dominguez, Manuela
Mannermaa, Arto
Olsson, Håkan
Teixeira, Manuel R
Stone, Jennifer
Offit, Kenneth
Ottini, Laura
Park, Sue K
Thomassen, Mads
Hall, Per
Meindl, Alfons
Schmutzler, Rita K
Droit, Arnaud
Bader, Gary D
Pharoah, Paul D P
Couch, Fergus J
Easton, Douglas F
Kraft, Peter
Chenevix-Trench, Georgia
García-Closas, Montserrat
Schmidt, Marjanka K
Antoniou, Antonis C
Simard, Jacques
Mesh: 
Issue Date: Dec-2017
Citation: Nat. Genet..2017 Dec;(49)12:1767-1778
Abstract: Most common breast cancer susceptibility variants have been identified through genome-wide association studies (GWAS) of predominantly estrogen receptor (ER)-positive disease. 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.
PMID: 29058716
URI: https://hdl.handle.net/20.500.12530/29997
Rights: openAccess
Appears in Collections:Hospitales > H. U. Puerta de Hierro Majadahonda > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. Puerta de Hierro-Segovia de Arana > Artículos

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