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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.
Abstract

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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