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

Journal article


Publication Details

Author(s): Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, Dicks E, Dennis J, Wang Q, Humphreys MK, Luccarini C, Baynes C, Conroy D, Maranian M, Ahmed S, Driver K, Johnson N, Orr N, Silva IDS, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Hall P, Czene K, Irwanto A, Liu J, Nevanlinna H, Aittomaki K, Blomqvist C, Meindl A, Schmutzler RK, Mueller-Myhsok B, Lichtner P, Chang-Claude J, Hein R, Nickels S, Flesch-Janys D, Tsimiklis H, Makalic E, Schmidt D, Bui M, Hopper JL, Apicella C, Park DJ, Southey M, Hunter DJ, Chanock SJ, Broeks A, Verhoef S, Hogervorst FBL, Fasching P, Lux MP, Beckmann M, Ekici AB, Sawyer E, Tomlinson I, Kerin M, Marme F, Schneeweiss A, Sohn C, Burwinkel B, Guenel P, Truong T, Cordina-Duverger E, Menegaux F, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Milne RL, Rosario Alonso M, Gonzalez-Neira A, Benitez J, Anton-Culver H, Ziogas A, Bernstein L, Dur CC, Brenner H, Mueller H, Arndt V, Stegmaier C, Justenhoven C, Brauch H, Bruening T, Wang-Gohrke S, Eilber U, Doerk T, Schuermann P, Bremer M, Hillemanns P, Bogdanova NV, Antonenkova NN, Rogov YI, Karstens JH, Bermisheva M, Prokofieva D, Khusnutdinova E, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Lambrechts D, Yesilyurt BT, Floris G, Leunen K, Manoukian S, Bonanni B, Fortuzzi S, Peterlongo P, Couch FJ, Wang X, Stevens K, Lee A, Giles GG, Baglietto L, Severi G, Mclean C, Alnaes GG, Kristensen V, Borrensen-Dale AL, John EM, Miron A, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Kauppila S, Andrulis IL, Glendon G, Mulligan AM, Devilee P, Van Asperen CJ, Tollenaar RAEM, Seynaeve C, Figueroa JD, Garcia-Closas M, Brinton L, Lissowska J, Hooning MJ, Hollestelle A, Oldenburg RA, Van Den Ouweland AMW, Cox A, Reed MWR, Shah M, Jakubowska A, Lubinski J, Jaworska K, Durda K, Jones M, Schoemaker M, Ashworth A, Swerdlow A, Beesley J, Chen X, Muir KR, Lophatananon A, Rattanamongkongul S, Chaiwerawattana A, Kang D, Yoo KY, Noh DY, Shen CY, Yu JC, Wu PE, Hsiung CN, Perkins A, Swann R, Velentzis L, Eccles DM, Tapper WJ, Gerty SM, Graham NJ, Ponder BAJ, Chenevix-Trench G, Pharoah PDP, Lathrop M, Dunning AM, Rahman N, Peto J, Easton DF
Journal: Nature Genetics
Publication year: 2012
Volume: 44
Journal issue: 3
Pages range: 312-8
ISSN: 1061-4036


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.


FAU Authors / FAU Editors

Beckmann, Matthias Prof. Dr.
Lehrstuhl für Geburtshilfe und Frauenheilkunde
Ekici, Arif Bülent Dr. rer. nat.
Humangenetisches Institut
Fasching, Peter PD Dr.
Professur für Translationale Frauenheilkunde und Geburtshilfe


External institutions with authors

Academia Sinica / 中央研究院
Antoni van Leeuwenhoek
Cancer Care Ontario
Cancer Prevention Institute of California (CPIC)
Centre national de génotypage (CNG)
City of Hope Medical Center
Copenhagen University Hospital
Dana–Farber Cancer Institute
Deutsches Krebsforschungszentrum (DKFZ)
Erasmus University Medical Center
Erasmus University Rotterdam (EUR) / Erasmus Universiteit Rotterdam
European Institute of Oncology / Istituto Europeo di Oncologia (IEO)
Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB)
Fondazione IRCCS: Istituto Nazionale dei Tumori
Genome Institute of Singapore
Guy's and St Thomas'
Harvard University
Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU)
Helsingin yliopisto / University of Helsinki
IFOM - FIRC Institute of Molecular Oncology
Institut für Prävention und Arbeitsmedizin der Deutschen Gesetzlichen Unfallversicherung (IPA)
Karolinska Institute
Krebsregister Saarland / Saarland Cancer Registry
Leiden University
London School of Hygiene and Tropical Medicine
Maria Skłodowska-Curie Institute of Oncology / Centrum Onkologii–Instytut im. Marii Skłodowskiej-Curie w Warszawie
Max-Planck-Institut für Psychiatrie (Deutsche Forschungsanstalt für Psychiatrie)
Mayo Clinic
Medizinische Hochschule Hannover (MHH) / Hannover Medical School
Ministry of Public Health (MOPH) / กระทรวงสาธารณสุข
Mount Sinai Hospital (MSH)
National Cancer Institute (NCI)
N.N. Alexandrov National Cancer Centre of Belarus for Oncology and Medical Radiology
Oslo University Hospital / Oslo Universitetssykehus
Oulun Yliopisto / University of Oulo
Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU)
QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research)
Research Center in Epidemiology and Population Health / Centre de recherche en Epidémiologie et Santé des Populations (CESP)
Robert-Bosch-Krankenhaus
Ruprecht-Karls-Universität Heidelberg
Russian Academy of Sciences / Росси́йская акаде́мия нау́к (RAS)
Seoul National University (SNU) / 서울대학교
Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO)
Srinakharinwirot University / มหาวิทยาลัยศรีนครินทรวิโรฒ
Technische Universität München (TUM)
The Alfred Hospital
The Institute of Cancer Research (ICR)
The University of Melbourne
Tri-Service General Hospital (TSGH) / 三軍總醫院
Universität Köln
Universitätsklinikum Hamburg-Eppendorf (UKE)
Universität Ulm
University Hospital Galway
University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven
University of California Irvine
University of Cambridge
University of Eastern Finland
University of Oxford
University of Sheffield
University of Southampton
University of Toronto
University of Warwick
University of Westminster
Vrije Universiteit Amsterdam (VU) / University Amsterdam


How to cite

APA:
Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E.,... Easton, D.F. (2012). Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature Genetics, 44(3), 312-8. https://dx.doi.org/10.1038/ng.1049

MLA:
Ghoussaini, Maya, et al. "Genome-wide association analysis identifies three new breast cancer susceptibility loci." Nature Genetics 44.3 (2012): 312-8.

BibTeX: 

Last updated on 2019-21-07 at 08:04