Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
;
Martine Dumont;
Alison M Dunning;
Diana M Eccles;
Hans Ehrencrona;
Arif B Ekici;
Heather Eliassen;
Steve Ellis;
Peter A Fasching;
Jonine Figueroa;
Dieter Flesch-Janys;
Asta Försti;
Florentia Fostira;
William D Foulkes;
Tara Friebel;
Eitan Friedman;
Debra Frost;
Marike Gabrielson;
Marilie D Gammon;
Patricia A Ganz;
Susan M Gapstur;
Judy Garber;
Mia M Gaudet;
Simon A Gayther;
Anne-Marie Gerdes;
Maya Ghoussaini;
Graham G Giles;
Gord Glendon;
Andrew K Godwin;
Mark S Goldberg;
David E Goldgar;
Anna González-Neira;
Mark H Greene;
Jacek Gronwald;
Pascal Guénel;
Marc Gunter;
Lothar Haeberle;
Christopher A Haiman;
Ute Hamann;
Thomas VO Hansen;
Steven Hart;
Sue Healey;
Tuomas Heikkinen;
Brian E Henderson;
Josef Herzog;
Frans BL Hogervorst;
Antoinette Hollestelle;
Maartje J Hooning;
Robert N Hoover;
John L Hopper;
Keith Humphreys;
David J Hunter;
Tomasz Huzarski;
Evgeny N Imyanitov;
Claudine Isaacs;
Anna Jakubowska;
Paul James;
Ramunas Janavicius;
Uffe Birk Jensen;
Esther M John;
Michael Jones;
Maria Kabisch;
Siddhartha Kar;
Beth Y Karlan;
Sofia Khan;
Kay-Tee Khaw;
Muhammad G Kibriya;
Julia A Knight;
Yon-Dschun Ko;
Irene Konstantopoulou;
Veli-Matti Kosma;
Vessela Kristensen;
Ava Kwong;
Yael Laitman;
Diether Lambrechts;
Conxi Lazaro;
Eunjung Lee;
Loic Le Marchand;
Jenny Lester;
Annika Lindblom;
Noralane Lindor;
Sara Lindstrom;
Jianjun Liu;
Jirong Long;
Jan Lubinski;
Phuong L Mai;
Enes Makalic;
Kathleen E Malone;
Arto Mannermaa;
Siranoush Manoukian;
Sara Margolin;
Frederik Marme;
John WM Martens;
Lesley McGuffog;
Alfons Meindl;
Austin Miller;
Roger L Milne;
Penelope Miron;
Marco Montagna;
Sylvie Mazoyer;
Anna M Mulligan;
Taru A Muranen;
Katherine L Nathanson;
Susan L Neuhausen;
Heli Nevanlinna;
Børge G Nordestgaard;
Robert L Nussbaum;
Kenneth Offit;
Edith Olah;
Olufunmilayo I Olopade;
Janet E Olson;
Ana Osorio;
Sue K Park;
Petra H Peeters;
Bernard Peissel;
Paolo Peterlongo;
Julian Peto ;
Catherine M Phelan;
Robert Pilarski;
Bruce Poppe;
Katri Pylkäs;
Paolo Radice;
Nazneen Rahman;
Johanna Rantala;
Christine Rappaport;
Gad Rennert;
Andrea Richardson;
Mark Robson;
Isabelle Romieu;
Anja Rudolph;
Emiel J Rutgers;
Maria-Jose Sanchez;
Regina M Santella;
Elinor J Sawyer;
Daniel F Schmidt;
Marjanka K Schmidt;
Rita K Schmutzler;
Fredrick Schumacher;
Rodney Scott;
Leigha Senter;
Priyanka Sharma;
Jacques Simard;
Christian F Singer;
Olga M Sinilnikova;
Penny Soucy;
Melissa Southey;
Doris Steinemann;
Marie Stenmark-Askmalm;
Dominique Stoppa-Lyonnet;
Anthony Swerdlow;
Csilla I Szabo;
Rulla Tamimi;
William Tapper;
Manuel R Teixeira;
Soo-Hwang Teo;
Mary B Terry;
Mads Thomassen;
Deborah Thompson;
Laima Tihomirova;
Amanda E Toland;
Robert AEM Tollenaar;
Ian Tomlinson;
Thérèse Truong;
Helen Tsimiklis;
Alex Teulé;
Rosario Tumino;
Nadine Tung;
Clare Turnbull;
Giski Ursin;
Carolien HM van Deurzen;
Elizabeth J van Rensburg;
Raymonda Varon-Mateeva;
Zhaoming Wang;
Shan Wang-Gohrke;
Elisabete Weiderpass;
Jeffrey N Weitzel;
Alice Whittemore;
Hans Wildiers;
Robert Winqvist;
Xiaohong R Yang;
Drakoulis Yannoukakos;
Song Yao;
M Pilar Zamora;
Wei Zheng;
Per Hall;
Peter Kraft;
Celine Vachon;
Susan Slager;
Georgia Chenevix-Trench;
Paul DP Pharoah;
Alvaro AN Monteiro;
Montserrat García-Closas;
Douglas F Easton;
Antonis C Antoniou;
(2016)
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer.
Nature communications, 7 (1).
11375-.
ISSN 2041-1723
DOI: 10.1038/ncomms11375
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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