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

نویسندگان

  • 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 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
  • Stig E. Bojesen
  • Manjeet K. Bolla
  • Bernardo Bonanni
  • Hiltrud Brauch
  • Hermann Brenner
  • Barbara Burwinkel
  • Saundra S. 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 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 V. O. Hansen
  • Steven 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 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 A. E. M. Tollenaar
  • Ian Tomlinson
  • Thérèse 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 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 D. P. Pharoah
  • Alvaro A. N. Monteiro
  • Montserrat García-Closas
  • Douglas F. Easton
  • Antonis C. Antoniou
چکیده

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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عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2016