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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
- Author(s): Couch, Fergus J
- Kuchenbaecker, Karoline B
- Michailidou, Kyriaki
- Mendoza-Fandino, Gustavo A
- Nord, Silje
- Lilyquist, Janna
- Olswold, Curtis
- Hallberg, Emily
- Agata, Simona
- Ahsan, Habibul
- Aittomäki, Kristiina
- Ambrosone, Christine
- Andrulis, Irene L
- Anton-Culver, Hoda
- Arndt, Volker
- Arun, Banu K
- Arver, Brita
- Barile, Monica
- Barkardottir, Rosa B
- Barrowdale, Daniel
- Beckmann, Lars
- Beckmann, Matthias W
- Benitez, Javier
- Blank, Stephanie V
- Blomqvist, Carl
- Bogdanova, Natalia V
- Bojesen, Stig E
- Bolla, Manjeet K
- Bonanni, Bernardo
- Brauch, Hiltrud
- Brenner, Hermann
- Burwinkel, Barbara
- Buys, Saundra S
- Caldes, Trinidad
- Caligo, Maria A
- Canzian, Federico
- Carpenter, Jane
- Chang-Claude, Jenny
- Chanock, Stephen J
- Chung, Wendy K
- Claes, Kathleen BM
- Cox, Angela
- Cross, Simon S
- Cunningham, Julie M
- Czene, Kamila
- Daly, Mary B
- Damiola, Francesca
- Darabi, Hatef
- de la Hoya, Miguel
- Devilee, Peter
- Diez, Orland
- Ding, Yuan C
- Dolcetti, Riccardo
- Domchek, Susan M
- Dorfling, Cecilia M
- Dos-Santos-Silva, Isabel
- Dumont, Martine
- Dunning, Alison M
- Eccles, Diana M
- Ehrencrona, Hans
- Ekici, Arif B
- Eliassen, Heather
- Ellis, Steve
- Fasching, Peter A
- Figueroa, Jonine
- Flesch-Janys, Dieter
- Försti, Asta
- Fostira, Florentia
- Foulkes, William D
- Friebel, Tara
- Friedman, Eitan
- Frost, Debra
- Gabrielson, Marike
- Gammon, Marilie D
- Ganz, Patricia A
- Gapstur, Susan M
- Garber, Judy
- Gaudet, Mia M
- Gayther, Simon A
- Gerdes, Anne-Marie
- Ghoussaini, Maya
- Giles, Graham G
- Glendon, Gord
- Godwin, Andrew K
- Goldberg, Mark S
- Goldgar, David E
- González-Neira, Anna
- Greene, Mark H
- Gronwald, Jacek
- Guénel, Pascal
- Gunter, Marc
- Haeberle, Lothar
- Haiman, Christopher A
- Hamann, Ute
- Hansen, Thomas VO
- Hart, Steven
- Healey, Sue
- Heikkinen, Tuomas
- Henderson, Brian E
- Herzog, Josef
- Hogervorst, Frans BL
- Hollestelle, Antoinette
- Hooning, Maartje J
- Hoover, Robert N
- Hopper, John L
- Humphreys, Keith
- Hunter, David J
- Huzarski, Tomasz
- Imyanitov, Evgeny N
- Isaacs, Claudine
- Jakubowska, Anna
- James, Paul
- Janavicius, Ramunas
- Jensen, Uffe Birk
- John, Esther M
- Jones, Michael
- Kabisch, Maria
- Kar, Siddhartha
- Karlan, Beth Y
- Khan, Sofia
- Khaw, Kay-Tee
- Kibriya, Muhammad G
- Knight, Julia A
- Ko, Yon-Dschun
- Konstantopoulou, Irene
- Kosma, Veli-Matti
- Kristensen, Vessela
- Kwong, Ava
- Laitman, Yael
- Lambrechts, Diether
- Lazaro, Conxi
- Lee, Eunjung
- Le Marchand, Loic
- Lester, Jenny
- Lindblom, Annika
- Lindor, Noralane
- Lindstrom, Sara
- Liu, Jianjun
- Long, Jirong
- Lubinski, Jan
- Mai, Phuong L
- Makalic, Enes
- Malone, Kathleen E
- Mannermaa, Arto
- Manoukian, Siranoush
- Margolin, Sara
- Marme, Frederik
- Martens, John WM
- McGuffog, Lesley
- Meindl, Alfons
- Miller, Austin
- Milne, Roger L
- Miron, Penelope
- Montagna, Marco
- Mazoyer, Sylvie
- Mulligan, Anna M
- Muranen, Taru A
- Nathanson, Katherine L
- Neuhausen, Susan L
- Nevanlinna, Heli
- Nordestgaard, Børge G
- Nussbaum, Robert L
- Offit, Kenneth
- Olah, Edith
- Olopade, Olufunmilayo I
- Olson, Janet E
- Osorio, Ana
- Park, Sue K
- Peeters, Petra H
- Peissel, Bernard
- Peterlongo, Paolo
- Peto, Julian
- Phelan, Catherine M
- Pilarski, Robert
- Poppe, Bruce
- Pylkäs, Katri
- Radice, Paolo
- Rahman, Nazneen
- Rantala, Johanna
- Rappaport, Christine
- Rennert, Gad
- Richardson, Andrea
- Robson, Mark
- Romieu, Isabelle
- Rudolph, Anja
- Rutgers, Emiel J
- Sanchez, Maria-Jose
- Santella, Regina M
- Sawyer, Elinor J
- Schmidt, Daniel F
- Schmidt, Marjanka K
- Schmutzler, Rita K
- Schumacher, Fredrick
- Scott, Rodney
- Senter, Leigha
- Sharma, Priyanka
- Simard, Jacques
- Singer, Christian F
- Sinilnikova, Olga M
- Soucy, Penny
- Southey, Melissa
- Steinemann, Doris
- Stenmark-Askmalm, Marie
- Stoppa-Lyonnet, Dominique
- Swerdlow, Anthony
- Szabo, Csilla I
- Tamimi, Rulla
- Tapper, William
- Teixeira, Manuel R
- Teo, Soo-Hwang
- Terry, Mary B
- Thomassen, Mads
- Thompson, Deborah
- Tihomirova, Laima
- Toland, Amanda E
- Tollenaar, Robert AEM
- Tomlinson, Ian
- Truong, Thérèse
- Tsimiklis, Helen
- Teulé, Alex
- Tumino, Rosario
- Tung, Nadine
- Turnbull, Clare
- Ursin, Giski
- van Deurzen, Carolien HM
- van Rensburg, Elizabeth J
- Varon-Mateeva, Raymonda
- Wang, Zhaoming
- Wang-Gohrke, Shan
- Weiderpass, Elisabete
- Weitzel, Jeffrey N
- Whittemore, Alice
- Wildiers, Hans
- Winqvist, Robert
- Yang, Xiaohong R
- Yannoukakos, Drakoulis
- Yao, Song
- Zamora, M Pilar
- Zheng, Wei
- Hall, Per
- Kraft, Peter
- Vachon, Celine
- Slager, Susan
- Chenevix-Trench, Georgia
- Pharoah, Paul DP
- Monteiro, Alvaro AN
- García-Closas, Montserrat
- Easton, Douglas F
- Antoniou, Antonis C
- et al.
Published Web Location
https://doi.org/10.1038/ncomms11375Abstract
Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.
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