FCCC LOGO Faculty Publications
Milne RL , Kuchenbaecker KB , Michailidou K , Beesley J , Kar S , Lindstrom S , Hui S , Lemacon A , Soucy P , Dennis J , Jiang X , Rostamianfar A , Finucane H , Bolla MK , McGuffog L , Wang Q , Aalfs CM , Adams M , Adlard J , Agata S , Ahmed S , Ahsan H , Aittomaki K , Al-Ejeh F , Allen J , Ambrosone CB , Amos CI , Andrulis IL , Anton-Culver H , Antonenkova NN , Arndt V , Arnold N , Aronson KJ , Auber B , Auer PL , Ausems Mgem , Azzollini J , Bacot F , Balmana J , Barile M , Barjhoux L , Barkardottir RB , Barrdahl M , Barnes D , Barrowdale D , Baynes C , Beckmann MW , Benitez J , Bermisheva M , Bernstein L , Bignon YJ , Blazer KR , Blok MJ , Blomqvist C , Blot W , Bobolis K , Boeckx B , Bogdanova NV , Bojesen A , Bojesen SE , Bonanni B , Borresen-Dale AL , Bozsik A , Bradbury AR , Brand JS , Brauch H , Brenner H , Bressac-de Paillerets B , Brewer C , Brinton L , Broberg P , Brooks-Wilson A , Brunet J , Bruning T , Burwinkel B , Buys SS , Byun J , Cai Q , Caldes T , Caligo MA , Campbell I , Canzian F , Caron O , Carracedo A , Carter BD , Castelao JE , Castera L , Caux-Moncoutier V , Chan SB , Chang-Claude J , Chanock SJ , Chen X , Cheng TD , Chiquette J , Christiansen H , Claes KBM , Clarke CL , Conner T , Conroy DM , Cook J , Cordina-Duverger E , Cornelissen S , Coupier I , Cox A , Cox DG , Cross SS , Cuk K , Cunningham JM , Czene K , Daly MB , Damiola F , Darabi H , Davidson R , De Leeneer K , Devilee P , Dicks E , Diez O , Ding YC , Ditsch N , Doheny KF , Domchek SM , Dorfling CM , Dork T , Dos-Santos-Silva I , Dubois S , Dugue PA , Dumont M , Dunning AM , Durcan L , Dwek M , Dworniczak B , Eccles D , Eeles R , Ehrencrona H , Eilber U , Ejlertsen B , Ekici AB , Eliassen AH , Engel C , Eriksson M , Fachal L , Faivre L , Fasching PA , Faust U , Figueroa J , Flesch-Janys D , Fletcher O , Flyger H , Foulkes WD , Friedman E , Fritschi L , Frost D , Gabrielson M , Gaddam P , Gammon MD , Ganz PA , Gapstur SM , Garber J , Garcia-Barberan V , Garcia-Saenz JA , Gaudet MM , Gauthier-Villars M , Gehrig A , Georgoulias V , Gerdes AM , Giles GG , Glendon G , Godwin AK , Goldberg MS , Goldgar DE , Gonzalez-Neira A , Goodfellow P , Greene MH , Alnaes GIG , Grip M , Gronwald J , Grundy A , Gschwantler-Kaulich D , Guenel P , Guo Q , Haeberle L , Hahnen E , Haiman CA , Hakansson N , Hallberg E , Hamann U , Hamel N , Hankinson S , Hansen TVO , Harrington P , Hart SN , Hartikainen JM , Healey CS , Hein A , Helbig S , Henderson A , Heyworth J , Hicks B , Hillemanns P , Hodgson S , Hogervorst FB , Hollestelle A , Hooning MJ , Hoover B , Hopper JL , Hu C , Huang G , Hulick PJ , Humphreys K , Hunter DJ , Imyanitov EN , Isaacs C , Iwasaki M , Izatt L , Jakubowska A , James P , Janavicius R , Janni W , Jensen UB , John EM , Johnson N , Jones K , Jones M , Jukkola-Vuorinen A , Kaaks R , Kabisch M , Kaczmarek K , Kang D , Kast K , Keeman R , Kerin MJ , Kets CM , Keupers M , Khan S , Khusnutdinova E , Kiiski JI , Kim SW , Knight JA , Konstantopoulou I , Kosma VM , Kristensen VN , Kruse TA , Kwong A , Laenkholm AV , Laitman Y , Lalloo F , Lambrechts D , Landsman K , Lasset C , Lazaro C , Le Marchand L , Lecarpentier J , Lee A , Lee E , Lee JW , Lee MH , Lejbkowicz F , Lesueur F , Li J , Lilyquist J , Lincoln A , Lindblom A , Lissowska J , Lo WY , Loibl S , Long J , Loud JT , Lubinski J , Luccarini C , Lush M , MacInnis RJ , Maishman T , Makalic E , Kostovska IM , Malone KE , Manoukian S , Manson JE , Margolin S , Martens JWM , Martinez ME , Matsuo K , Mavroudis D , Mazoyer S , McLean C , Meijers-Heijboer H , Menendez P , Meyer J , Miao H , Miller A , Miller N , Mitchell G , Montagna M , Muir K , Mulligan AM , Mulot C , Nadesan S , Nathanson KL , Neuhausen SL , Nevanlinna H , Nevelsteen I , Niederacher D , Nielsen SF , Nordestgaard BG , Norman A , Nussbaum RL , Olah E , Olopade OI , Olson JE , Olswold C , Ong KR , Oosterwijk JC , Orr N , Osorio A , Pankratz VS , Papi L , Park-Simon TW , Paulsson-Karlsson Y , Lloyd R , Pedersen IS , Peissel B , Peixoto A , Perez JIA , Peterlongo P , Peto J , Pfeiler G , Phelan CM , Pinchev M , Plaseska-Karanfilska D , Poppe B , Porteous ME , Prentice R , Presneau N , Prokofieva D , Pugh E , Pujana MA , Pylkas K , Rack B , Radice P , Rahman N , Rantala J , Rappaport-Fuerhauser C , Rennert G , Rennert HS , Rhenius V , Rhiem K , Richardson A , Rodriguez GC , Romero A , Romm J , Rookus MA , Rudolph A , Ruediger T , Saloustros E , Sanders J , Sandler DP , Sangrajrang S , Sawyer EJ , Schmidt DF , Schoemaker MJ , Schumacher F , Schurmann P , Schwentner L , Scott C , Scott RJ , Seal S , Senter L , Seynaeve C , Shah M , Sharma P , Shen CY , Sheng X , Shimelis H , Shrubsole MJ , Shu XO , Side LE , Singer CF , Sohn C , Southey MC , Spinelli JJ , Spurdle AB , Stegmaier C , Stoppa-Lyonnet D , Sukiennicki G , Surowy H , Sutter C , Swerdlow A , Szabo CI , Tamimi RM , Tan YY , Taylor JA , Tejada MI , Tengstrom M , Teo SH , Terry MB , Tessier DC , Teule A , Thone K , Thull DL , Tibiletti MG , Tihomirova L , Tischkowitz M , Toland AE , Tollenaar Raem , Tomlinson I , Tong L , Torres D , Tranchant M , Truong T , Tucker K , Tung N , Tyrer J , Ulmer HU , Vachon C , van Asperen CJ , Van Den Berg D , van den Ouweland AMW , van Rensburg EJ , 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 CR , Weitzel JN , Wendt C , Wesseling J , Whittemore AS , Wijnen JT , Willett W , Winqvist R , Wolk A , Wu AH , Xia L , Yang XR , Yannoukakos D , Zaffaroni D , Zheng W , Zhu B , Ziogas A , Ziv E , Zorn KK , Gago-Dominguez M , Mannermaa A , Olsson H , Teixeira MR , Stone J , Offit K , Ottini L , Park SK , Thomassen M , Hall P , Meindl A , Schmutzler RK , Droit A , Bader GD , Pharoah PDP , Couch FJ , Easton DF , Kraft P , Chenevix-Trench G , Garcia-Closas M , Schmidt MK , Antoniou AC , Simard J
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nat Genet. 2017 Oct 23;49(12) :1767-1778
PMID: 29058716    PMCID: PMC5808456    URL: https://www.ncbi.nlm.nih.gov/pubmed/29058716
Back to previous list
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 x 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.
Notes
1546-1718 Milne, Roger L ORCID: http://orcid.org/0000-0001-5764-7268 Kuchenbaecker, Karoline B Michailidou, Kyriaki Beesley, Jonathan Kar, Siddhartha Lindstrom, Sara Hui, Shirley Lemacon, Audrey Soucy, Penny Dennis, Joe Jiang, Xia Rostamianfar, Asha Finucane, Hilary Bolla, Manjeet K McGuffog, Lesley Wang, Qin Aalfs, Cora M ABCTB Investigators Adams, Marcia Adlard, Julian Agata, Simona Ahmed, Shahana Ahsan, Habibul Aittomaki, 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, Francois Balmana, 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 Borresen-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 Bruning, Thomas Burwinkel, Barbara Buys, Saundra S Byun, Jinyoung Cai, Qiuyin Caldes, 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 Dork, Thilo Dos-Santos-Silva, Isabel Dubois, Stephane Dugue, 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 Embrace 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 Garcia-Saenz, Jose A Gaudet, Mia M Gauthier-Villars, Marion Gehrig, Andrea GEMO Study Collaborators Georgoulias, Vassilios Gerdes, Anne-Marie Giles, Graham G Glendon, Gord Godwin, Andrew K Goldberg, Mark S Goldgar, David E Gonzalez-Neira, Anna Goodfellow, Paul Greene, Mark H Alnaes, Grethe I Grenaker Grip, Mervi Gronwald, Jacek Grundy, Anne Gschwantler-Kaulich, Daphne Guenel, Pascal Guo, Qi Haeberle, Lothar Hahnen, Eric Haiman, Christopher A Hakansson, Niclas Hallberg, Emily Hamann, Ute Hamel, Nathalie Hankinson, Susan Hansen, Thomas V O Harrington, Patricia Hart, Steven N Hartikainen, Jaana M Healey, Catherine S Hebon 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 kConFab/AOCS Investigators 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 Laenkholm, 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 Menendez, 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 NBSC Collaborators Neuhausen, Susan L Nevanlinna, Heli Nevelsteen, Ines Niederacher, Dieter Nielsen, Sune F Nordestgaard, Borge 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 Sokilde 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 Pylkas, 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 Schurmann, 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 Tengstrom, Maria Teo, Soo H Terry, Mary B Tessier, Daniel C Teule, Alex Thone, 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, Therese 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, Hakan 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 ORCID: http://orcid.org/0000-0003-0185-8861 Pharoah, Paul D P ORCID: http://orcid.org/0000-0001-8494-732X Couch, Fergus J Easton, Douglas F Kraft, Peter Chenevix-Trench, Georgia Garcia-Closas, Montserrat Schmidt, Marjanka K Antoniou, Antonis C Simard, Jacques Journal Article United States Nat Genet. 2017 Oct 23. doi: 10.1038/ng.3785.