Genome-wide association analysis identifies three new breast cancer susceptibility loci View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-03

AUTHORS

Maya Ghoussaini, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K Schmidt, Ed Dicks, Joe Dennis, Qin Wang, Manjeet K Humphreys, Craig Luccarini, Caroline Baynes, Don Conroy, Melanie Maranian, Shahana Ahmed, Kristy Driver, Nichola Johnson, Nicholas Orr, Isabel dos Santos Silva, Quinten Waisfisz, Hanne Meijers-Heijboer, Andre G. Uitterlinden, Fernando Rivadeneira, , 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, , Christina Justenhoven, Hiltrud Brauch, Thomas Brüning, , 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 Alnæs, 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 A.E.M. Tollenaar, Caroline Seynaeve, Jonine D Figueroa, Montserrat Garcia-Closas, Louise Brinton, Jolanta Lissowska, Maartje J. Hooning, Antoinette Hollestelle, Rogier A. Oldenburg, Ans M.W. 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, , , 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 A. J. Ponder, Georgia Chenevix-Trench, Paul D.P. Pharoah, Mark Lathrop, Alison M. Dunning, Nazneen Rahman, Julian Peto, Douglas F Easton

ABSTRACT

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. More... »

PAGES

312

Journal

TITLE

Nature Genetics

ISSUE

3

VOLUME

44

Author Affiliations

  • University of Cambridge
  • Institute of Cancer Research
  • Antoni van Leeuwenhoek Hospital
  • London School of Hygiene & Tropical Medicine
  • VU University Medical Center
  • Erasmus University Medical Center
  • Karolinska Institute
  • Helsinki University Central Hospital
  • Genome Institute of Singapore
  • Technical University Munich
  • University of Cologne
  • Max Planck Institute of Psychiatry
  • German Cancer Research Center
  • University Medical Center Hamburg-Eppendorf
  • University of Melbourne
  • Harvard University
  • National Cancer Institute
  • Universitätsklinikum Erlangen
  • University of Erlangen-Nuremberg
  • King's College London
  • University of Oxford
  • University Hospital Galway
  • Heidelberg University
  • University of Paris-Sud
  • Spanish National Cancer Research Centre
  • University of California, Irvine
  • City Of Hope National Medical Center
  • Cancer Prevention Institute of California
  • Krebsregister Saarland
  • University of Tübingen
  • University of Ulm
  • Hannover Medical School
  • Institute of Biochemistry and Genetics of Ufa Scientific Centre
  • Kuopio University Hospital
  • Flanders Institute for Biotechnology
  • Universitaire Ziekenhuizen Leuven
  • Istituto Nazionale dei Tumori
  • European Institute of Oncology
  • FIRC Institute of Molecular Oncology
  • Mayo Clinic
  • Cancer Council Victoria
  • Alfred Hospital
  • Oslo University Hospital
  • Stanford University
  • Dana–Farber Cancer Institute
  • University of Toronto
  • Cancer Care Ontario
  • St. Michael's Hospital
  • Leiden University Medical Center
  • Centrum Onkologii Instytut
  • University of Sheffield
  • Pomeranian Medical University
  • QIMR Berghofer Medical Research Institute
  • Peter MacCallum Cancer Centre
  • University of Warwick
  • Seoul National University
  • Institute of Biomedical Sciences, Academia Sinica
  • Tri-Service General Hospital
  • University of Westminster
  • University of Southampton
  • Cancer Research UK Cambridge Institute
  • Fondation Jean Dausset Centre d'Etude du Polymorphisme Humain
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.1049

    DOI

    http://dx.doi.org/10.1038/ng.1049

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1001402794

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/22267197


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