Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Research output: Contribution to journalJournal article

  • Fergus J Couch
  • Karoline B Kuchenbaecker
  • Kyriaki Michailidou
  • Gustavo A Mendoza-Fandino
  • Silje Nord
  • Janna Lilyquist
  • Curtis Olswold
  • Emily Hallberg
  • Simona Agata
  • Habibul Ahsan
  • Kristiina Aittomäki
  • Christine B Ambrosone
  • Irene L Andrulis
  • Hoda Anton-Culver
  • Volker Arndt
  • Banu K Arun
  • Brita Arver
  • Monica Barile
  • Rosa B Barkardottir
  • Daniel Barrowdale
  • Lars Beckmann
  • Matthias W Beckmann
  • Javier Benitez
  • Stephanie V Blank
  • Carl Blomqvist
  • Natalia V Bogdanova
  • Manjeet K Bolla
  • Bernardo Bonanni
  • Hiltrud Brauch
  • Hermann Brenner
  • Barbara Burwinkel
  • Saundra Buys
  • Trinidad Caldes
  • Maria A Caligo
  • Federico Canzian
  • Jane Carpenter
  • Jenny Chang-Claude
  • Stephen J Chanock
  • Wendy K Chung
  • Kathleen B M Claes
  • Angela Cox
  • Simon S Cross
  • Julie M Cunningham
  • Kamila Czene
  • Mary B Daly
  • Francesca Damiola
  • Hatef Darabi
  • Miguel de la Hoya
  • Peter Devilee
  • Orland Diez
  • Yuan C Ding
  • Riccardo Dolcetti
  • Susan M Domchek
  • Cecilia M Dorfling
  • Isabel dos Santos Silva
  • Martine Dumont
  • Alison M Dunning
  • Diana M Eccles
  • Hans Ehrencrona
  • Arif B Ekici
  • Heather Eliassen
  • Steve D Ellis
  • Peter A Fasching
  • Jonine Figueroa
  • Dieter Flesch-Janys
  • Asta Försti
  • Florentia Fostira
  • William D Foulkes
  • Tara M Friebel
  • Eitan Friedman
  • Debra Frost
  • Marike Gabrielson
  • Marilie D Gammon
  • Patricia A Ganz
  • Susan M Gapstur
  • Judy Garber
  • Mia Gaudet
  • Simon A Gayther
  • Maya Ghoussaini
  • Graham Giles
  • Gord Glendon
  • Andrew K Godwin
  • Mark S Goldberg
  • David E Goldgar
  • Anna González-Neira
  • Mark H Greene
  • Jacek Gronwald
  • Pascal Guénel
  • Marc J Gunter
  • Lothar Haeberle
  • Christopher A Haiman
  • Ute Hamann
  • Thomas v O Hansen
  • Steven N Hart
  • Sue Healey
  • Tuomas Heikkinen
  • Brian E Henderson
  • Josef Herzog
  • Frans B L 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 W. M. Martens
  • Lesley McGuffog
  • Alfons Meindl
  • Austin Miller
  • Roger L Milne
  • Penelope Miron
  • Marco Montagna
  • Sylvie Mazoyer
  • Anna Marie Mulligan
  • Taru A Muranen
  • Katherine L Nathanson
  • Susan L Neuhausen
  • Heli Nevanlinna
  • 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 L Richardson
  • Mark Robson
  • Isabelle Romieu
  • Anja Rudolph
  • Emiel J Rutgers
  • Maria-José Sánchez
  • Regina M Santella
  • Elinor J Sawyer
  • Daniel F Schmidt
  • Marjanka K Schmidt
  • Rita K Schmutzler
  • Fredrick Schumacher
  • Rodney J 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 A E M Tollenaar
  • Ian Tomlinson
  • Therese Truong
  • Helen Tsimiklis
  • Alex Teulé
  • Rosario Tumino
  • Nadine Tung
  • Clare Turnbull
  • Giski Ursin
  • Carolien H M van Deurzen
  • Elizabeth J van Rensburg
  • Raymonda Varon-Mateeva
  • Zhaoming Wang
  • Shan Wang-Gohrke
  • Elisabete Weiderpass
  • Jeffrey N Weitzel
  • Alice S 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 P D Pharoah
  • Alvaro N A Monteiro
  • Montserrat García-Closas
  • Douglas F Easton
  • Antonis C Antoniou

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.

Original languageEnglish
Article number11375
JournalNature Communications
Volume7
Pages (from-to)1-13
Number of pages13
ISSN2041-1723
DOIs
Publication statusPublished - 2016

    Research areas

  • Journal Article

ID: 177067393