MicroRNA Related Polymorphisms and Breast Cancer Risk

Khan S, Greco D, Michailidou K, Milne RL, Muranen TA, Heikkinen T, Aaltonen K, Dennis J, Bolla MK, Liu J, Hall P, Irwanto A, Humphreys K, Li J, Czene K, Chang-Claude J, Hein R, Rudolph A, Seibold P, Flesch-Janys D, Fletcher O, Peto J, Silva IDS, Johnson N, Gibson L, Aitken Z, Hopper JL, Tsimiklis H, Bui M, Makalic E, Schmidt DF, Southey MC, Apicella C, Stone J, Waisfisz Q, Meijers-Heijboer H, Adank MA, Van Der Luijt RB, Meindl A, Schmutzler RK, Muller-Myhsok B, Lichtner P, Turnbull C, Rahman N, Chanock SJ, Hunter DJ, Cox A, Cross SS, Reed MWR, Schmidt MK, Broeks A, Van'T Veer LJ, Hogervorst FB, Fasching P, Schrauder MG, Ekici AB, Beckmann M, Bojesen SE, Nordestgaard BG, Nielsen SF, Flyger H, Benitez J, Zamora PM, Perez JIA, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Pharoah PDP, Dunning AM, Shah M, Luben R, Brown J, Couch FJ, Wang X, Vachon C, Olson JE, Lambrechts D, Moisse M, Paridaens R, Christiaens MR, Guenel P, Truong T, Laurent-Puig P, Mulot C, Marme F, Burwinkel B, Schneeweiss A, Sohn C, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Andrulis IL, Knight JA, Tchatchou S, Mulligan AM, Dork T, Bogdanova NV, Antonenkova NN, Anton-Culver H, Darabi H, Eriksson M, Garcia-Closas M, Figueroa J, Lissowska J, Brinton L, Devilee P, Tollenaar RAEM, Seynaeve C, Van Asperen CJ, Kristensen VN, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Lindblom A, Margolin S, Radice P, Peterlongo P, Barile M, Mariani P, Hooning MJ, Martens JWM, Collee JM, Jager A, Jakubowska A, Lubinski J, Jaworska-Bieniek K, Durda K, Giles GG, Mclean C, Brauch H, Bruning T, Ko YD, Brenner H, Dieffenbach AK, Arndt V, Stegmaier C, Swerdlow A, Ashworth A, Orr N, Jones M, Simard J, Goldberg MS, Labreche F, Dumont M, Winqvist R, Pylkas K, Jukkola-Vuorinen A, Grip M, Kataja V, Kosma VM, Hartikainen JM, Mannermaa A, Hamann U, Chenevix-Trench G, Blomqvist C, Aittomaki K, Easton DF, Nevanlinna H (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Book Volume: 9

Pages Range: e109973

Journal Issue: 11

DOI: 10.1371/journal.pone.0109973

Abstract

Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.

Authors with CRIS profile

Involved external institutions

Antoni van Leeuwenhoek Netherlands (NL) Centre hospitalier universitaire de Québec Canada (CA) Université de Montréal Canada (CA) McGill University Canada (CA) Krebsregister Saarland / Saarland Cancer Registry Germany (DE) Deutsches Krebsforschungszentrum (DKFZ) Germany (DE) Ruhr-Universität Bochum (RUB) Germany (DE) Robert-Bosch-Krankenhaus Germany (DE) The Alfred Hospital Australia (AU) Cancer Council Victoria Australia (AU) Pomeranian Medical University / Pomorski Uniwersytet Medyczny w Szczecinie (PMU) Poland (PL) Erasmus University Rotterdam (EUR) / Erasmus Universiteit Rotterdam Netherlands (NL) IFOM - FIRC Institute of Molecular Oncology Italy (IT) European Institute of Oncology / Istituto Europeo di Oncologia (IEO) Italy (IT) Evangelische Kliniken Bonn gGmbH Germany (DE) N.N. Alexandrov National Cancer Centre of Belarus for Oncology and Medical Radiology Belarus (BY) Medizinische Hochschule Hannover (MHH) / Hannover Medical School Germany (DE) University of Toronto Canada (CA) Mount Sinai Hospital (MSH) Canada (CA) University of Oxford United Kingdom (GB) Guy's and St Thomas' (NHS Foundation Trust) United Kingdom (GB) National University of Ireland (NUI), Galway Ireland (IE) Ruprecht-Karls-Universität Heidelberg Germany (DE) University of Paris 4 - Paris-Sorbonne / Université paris IV Paris-Sorbonne France (FR) National Institute for Health and Medical Research / Institut national de la santé et de la recherche médicale (INSERM) France (FR) University Hospital Leuven (UZ) / Universitaire ziekenhuizen Leuven Belgium (BE) Flanders Institute for Biotechnology / Vlaams Instituut voor Biotechnologie (VIB) Belgium (BE) Mayo Clinic United States (USA) (US) University of Cambridge United Kingdom (GB) University of Hawaii (U.H.) United States (USA) (US) University of Southern California (USC) United States (USA) (US) Hospital Monte Naranco Spain (ES) Hospital Universitario La Paz Spain (ES) Spanish National Cancer Research Centre / Centro Nacional de Investigaciones Oncológicas (CNIO) Spain (ES) Copenhagen University Hospital Denmark (DK) Herlev Hospital Denmark (DK) University of Sheffield United Kingdom (GB) Harvard University United States (USA) (US) National Cancer Institute (NCI) United States (USA) (US) The Institute of Cancer Research (ICR) United Kingdom (GB) Helmholtz Zentrum München - Deutsches Forschungszentrum für Gesundheit und Umwelt (HMGU) / Helmholtz Munich Germany (DE) Max-Planck-Institut für Psychiatrie (Deutsche Forschungsanstalt für Psychiatrie) Germany (DE) Universitätsklinikum Köln Germany (DE) Technische Universität München (TUM) Germany (DE) University Medical Centre Utrecht (UMC Utrecht) Netherlands (NL) Vrije Universiteit Amsterdam (VU) / University Amsterdam Netherlands (NL) The University of Melbourne Australia (AU) London School of Hygiene and Tropical Medicine United Kingdom (GB) Universitätsklinikum Hamburg-Eppendorf (UKE) Germany (DE) Karolinska Institute Sweden (SE) Genome Institute of Singapore Singapore (SG) Helsingin yliopisto / University of Helsinki Finland (FI) QIMR Berghofer Medical Research Institute (früher: the Queensland Institute of Medical Research) Australia (AU) University of Eastern Finland Finland (FI) Oulun Yliopisto / University of Oulo Finland (FI) Erasmus University Medical Center (MC) Netherlands (NL) Roswell Park Cancer Institute United States (USA) (US) Ohio State University United States (USA) (US) University of Oslo Norway (NO) Leiden University Netherlands (NL) Maria Skłodowska-Curie Institute of Oncology / Centrum Onkologii–Instytut im. Marii Skłodowskiej-Curie w Warszawie Poland (PL) University College London (UCL) United Kingdom (GB) University of California Irvine United States (USA) (US) National Centre for Scientific Research (NCSR) "Demokritos" Greece (GR) Fondazione IRCCS: Istituto Nazionale dei Tumori Italy (IT)

How to cite

APA:

Khan, S., Greco, D., Michailidou, K., Milne, R.L., Muranen, T.A., Heikkinen, T.,... Nevanlinna, H. (2014). MicroRNA Related Polymorphisms and Breast Cancer Risk. PLoS ONE, 9(11), e109973. https://dx.doi.org/10.1371/journal.pone.0109973

MLA:

Khan, Sofia, et al. "MicroRNA Related Polymorphisms and Breast Cancer Risk." PLoS ONE 9.11 (2014): e109973.

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