Genome-wide association analysis identifies three new breast cancer susceptibility loci.
;
Quinten Waisfisz;
Hanne Meijers-Heijboer;
Andre G Uitterlinden;
Fernando Rivadeneira;
Netherlands Collaborative Group on Hereditary Breast and Ovarian;
Per Hall;
Kamila Czene;
Astrid Irwanto;
Jianjun Liu;
Heli Nevanlinna;
Kristiina Aittomäki;
Carl Blomqvist;
Alfons Meindl;
Rita K Schmutzler;
Bertram Müller-Myhsok;
Peter Lichtner;
Jenny Chang-Claude;
Rebecca Hein;
Stefan Nickels;
Dieter Flesch-Janys;
Helen Tsimiklis;
Enes Makalic;
Daniel Schmidt;
Minh Bui;
John L Hopper;
Carmel Apicella;
Daniel J Park;
Melissa Southey;
David J Hunter;
Stephen J Chanock;
Annegien Broeks;
Senno Verhoef;
Frans BL Hogervorst;
Peter A Fasching;
Michael P Lux;
Matthias W Beckmann;
Arif B Ekici;
Elinor Sawyer;
Ian Tomlinson;
Michael Kerin;
Frederik Marme;
Andreas Schneeweiss;
Christof Sohn;
Barbara Burwinkel;
Pascal Guénel;
Thérèse Truong;
Emilie Cordina-Duverger;
Florence Menegaux;
Stig E Bojesen;
Børge G Nordestgaard;
Sune F Nielsen;
Henrik Flyger;
Roger L Milne;
M Rosario Alonso;
Anna González-Neira;
Javier Benítez;
Hoda Anton-Culver;
Argyrios Ziogas;
Leslie Bernstein;
Christina Clarke Dur;
Hermann Brenner;
Heiko Müller;
Volker Arndt;
Christa Stegmaier;
Familial Breast Cancer Study (FBCS);
Christina Justenhoven;
Hiltrud Brauch;
Thomas Brüning;
Gene Environment Interaction of Breast Cancer in Germany (GENICA;
Shan Wang-Gohrke;
Ursula Eilber;
Thilo Dörk;
Peter Schürmann;
Michael Bremer;
Peter Hillemanns;
Natalia V Bogdanova;
Natalia N Antonenkova;
Yuri I Rogov;
Johann H Karstens;
Marina Bermisheva;
Darya Prokofieva;
Elza Khusnutdinova;
Annika Lindblom;
Sara Margolin;
Arto Mannermaa;
Vesa Kataja;
Veli-Matti Kosma;
Jaana M Hartikainen;
Diether Lambrechts;
Betul T Yesilyurt;
Giuseppe Floris;
Karin Leunen;
Siranoush Manoukian;
Bernardo Bonanni;
Stefano Fortuzzi;
Paolo Peterlongo;
Fergus J Couch;
Xianshu Wang;
Kristen Stevens;
Adam Lee;
Graham G Giles;
Laura Baglietto;
Gianluca Severi;
Catriona McLean;
Grethe Grenaker Alnaes;
Vessela Kristensen;
Anne-Lise Børrensen-Dale;
Esther M John;
Alexander Miron;
Robert Winqvist;
Katri Pylkäs;
Arja Jukkola-Vuorinen;
Saila Kauppila;
Irene L Andrulis;
Gord Glendon;
Anna Marie Mulligan;
Peter Devilee;
Christie J van Asperen;
Rob AEM Tollenaar;
Caroline Seynaeve;
Jonine D Figueroa;
Montserrat Garcia-Closas;
Louise Brinton;
Jolanta Lissowska;
Maartje J Hooning;
Antoinette Hollestelle;
Rogier A Oldenburg;
Ans MW van den Ouweland;
Angela Cox;
Malcolm WR Reed;
Mitul Shah;
Ania Jakubowska;
Jan Lubinski;
Katarzyna Jaworska;
Katarzyna Durda;
Michael Jones;
Minouk Schoemaker;
Alan Ashworth;
Anthony Swerdlow;
Jonathan Beesley;
Xiaoqing Chen;
kConFab Investigators;
Australian Ovarian Cancer Study Group;
Kenneth R Muir;
Artitaya Lophatananon;
Suthee Rattanamongkongul;
Arkom Chaiwerawattana;
Daehee Kang;
Keun-Young Yoo;
Dong-Young Noh;
Chen-Yang Shen;
Jyh-Cherng Yu;
Pei-Ei Wu;
Chia-Ni Hsiung;
Annie Perkins;
Ruth Swann;
Louiza Velentzis;
Diana M Eccles;
Will J Tapper;
Susan M Gerty;
Nikki J Graham;
Bruce AJ Ponder;
Georgia Chenevix-Trench;
Paul DP Pharoah;
Mark Lathrop;
Alison M Dunning;
Nazneen Rahman;
Julian Peto ;
Douglas F Easton;
(2012)
Genome-wide association analysis identifies three new breast cancer susceptibility loci.
Nature genetics, 44 (3).
pp. 312-318.
ISSN 1061-4036
DOI: 10.1038/ng.1049
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ∼8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in ∼70,000 cases and ∼68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 × 10(-35)), 12q24 (rs1292011; P = 4.3 × 10(-19)) and 21q21 (rs2823093; P = 1.1 × 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
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