MicroRNA related polymorphisms and breast cancer risk.

deFazio, Anna A; Zeps, N N; Taylor, Donna D; Taylor, Jessica J; Thierry, Benjamin B; Thomas, Susan S; Thompson, Ella E; Thorne, Heather H; Townshend, Sharron S; Trainer, Alison A; Tran, Lan L; Tucker, Kathy K; Tyler, Janet J; Visvader, Jane J; Walker, Logan L; Walpole, Ian I; Khan, Sofia S.; Ward, Robin R; Waring, Paul P; Warner, Bev B; Warren, Graham G; Greco, Dario D.; Williams, Rachael R; Wilson, Judy J; Winship, Ingrid I; Michailidou, Kyriaki K.; Wu, Kathy K; Milne, Roger L. Rl; Young, Mary Ann; Valmadre, S S; Young, B B; Muranen, Taru A. Ta; Wain, G G; Hall, Per; Whiteman, D D; Heikkinen, Tuomas T.; Hall, P.; Ward, B B; Wyld, D D; dos Santos Silva, Isabel I.; Waring, P P; Underhill, C C; Bolla, Manjeet K. Mk; Veer, Laura J. V. A. N.-'.-T; Van Der Luijt, R. B.; Dennis, Joe J.; Aaltonen, Kirsimari K.; Van Asperen, C. J.; Tol, A. E.; The Genica Network, H. B.; Seshadri, Ram R; Sexton, Adrienne A; Sharma, Raghwa R; Shelling, Andrew A; Liu, Jianjun J.; Simpson, Peter P; Southey, Melissa M; Spurdle, Amanda A; Suthers, Graeme G; Sykes, Pamela P; Johnson, Nichola; Fletcher, Olivia O.; Irwanto, Astrid A.; Peto, Julian J.; Stuart-Harris, R R; Tsimiklis, Helen H.; Silva, Isabel Dos Santos; Shannon, J J; Johnson, N.; Humphreys, Keith K.; Stewart, J J; Sharma, R R; Susil, B B; Gibson, Lorna L.; Sumithran, E E; Simpson, I I; Li, Jingmei J.; Hopper, John L.; Stewart, C C; van der Luijt, Rob B. Rb; Czene, Kamila K.; Aitken, Zoe Z.; Waisfisz, Quinten Q.; Scott, Elizabeth E; Bui, Minh M.; Scott, Rodney R; Scott, Clare C; Makalic, Enes E.; Hall, Per P; Chang-Claude, Jenny J.; Southey, Melissa C. Mc; Schmidt, Daniel F. Df; Johnson, Nichola N; Hopper, John L Jl; Rl, Milne; Hein, Rebecca R.; Brown, Judith J; Stone, Jennifer J.; Van't Veer, Laura J. Lj; Miller, Nicola N; Muller-Myhsok, Bertram; Jones, Michael M; Turnbull, Clare C.; Lo, Wing-Yee Wy; Rudolph, Anja A.; Apicella, Carmel C.; Meijers-Heijboer, Hanne H.; Justenhoven, Christina C; Meindl, Alfons A.; Seibold, Petra P.; Fischer, Hans-Peter Hp; Pesch, Beate B; Schmutzler, Rita K. Rk; Rabstein, Sylvia S; Müller-Myhsok, Bertram B.; Ta, Muranen; Adank, Muriel A.; Flesch-Janys, Dieter D.; Lotz, Anne A; Harth, Volker; Lichtner, Peter P.; Brennan, Meagan M; Brown, Melissa M; Rahman, Nazneen N.; Buckley, Michael M; Chanock, Stephen J. Sj; Burgess, Matthew M; Burke, Jo J; Hunter, David J. Dj; Butow, Phyllis P; Cox, Angela A.; Byron, Keith K; Callen, David D; Cross, Simon S. Ss; Campbell, Ian I; Chauhan, Deepa D; Reed, Malcolm W. R. Mw; Chauhan, Manisha M; Schmidt, Marjanka K. Mk; Brown, Judith; Zamora, Pilar M. Pm; Christian, Alice A; Broeks, Annegien A.; Clarke, Christine C; N't Veer, Laura J. V. A.; Colley, Alison A; Cotton, Dick D; Hogervorst, Frans B. Fb; Crook, Ashley A; Cui, James J; Culling, Bronwyn B; Hopper, John Jl; Fasching, Peter A. Pa; Schrauder, Michael G. Mg; Cummings, Margaret M; Ekici, Arif B.; Dawson, Sarah-Jane Sj; Delatycki, Martin M; Dickson, Rebecca R; Dixon, Joanne J; Nordestgaard, Børge G. Bg; Dobrovic, Alexander A; Wang, Xianshu X.; Dudding, Tracy T; Beckmann, Matthias W. Mw; Nielsen, Sune F. Sf; Edkins, Ted T; Vachon, Celine C.; Edwards, Stacey S; Flyger, Henrik H.; Bojesen, Stig E. Se; Eisenbruch, Maurice M; Farshid, Gelareh G; Le Marchand, Loic L.; Fawcett, Susan S; Fellows, Andrew A; Perez, Jose I. A. Ji; Fenton, Georgina G; Field, Michael M; Haiman, Christopher A. Ca; Firgaira, Frank F; Marchand, Loic Le; Benitez, Javier J.; Truong, Thérèse T.; Henderson, Brian E. Be; Flanagan, James J; Fleming, Jean J; Schumacher, Fredrick F.; Fong, Peter P; Forbes, John J; Fox, Stephen S; Pharoah, Paul D. P. Pd; French, Juliet J; Friedlander, Michael M; Shah, Mitul M.; Dunning, Alison M. Am; Gaff, Clara C; March, L. L.; Gardner, Mac M; Gattas, Mike M; Tomlinson, Ian I.; Luben, Robert R.; George, Peter P; Giles, Graham g; Gill, Grantley G; Brown, J.; Goldblatt, Jack J; Couch, Fergus J. Fj; Greening, Sian S; Grist, Scott S; Haan, Eric E; Tchatchou, Sandrine S.; Olson, Janet E. Je; Mk, Bolla; Hardie, Kate K; Harris, Marion M; Lambrechts, Diether D.; Hart, Stewart S; Hayward, Nick N; Moisse, Matthieu M.; Healey, Sue S; Heiniger, Louise L; Paridaens, Robert R.; Christiaens, Marie-Rose Mr; Humphrey, Evelyn E; Christiaens, Rose; Guénel, Pascal P.; Hunt, Clare C; James, Paul P; Jenkins, Mark M; Jones, Alison A; Laurent-Puig, Pierre P.; Kefford, Rick R; van Asperen, Christi J. Cj; Mulot, Claire C.; Miller, Nicola; Kidd, Alexa A; Marme, Frederick F.; Kiely, Belinda B; Tollenaar, Robert A. E. M. Ra; Kirk, Judy J; Burwinkel, Barbara B.; Koehler, Jessica J; Kollias, James J; Sohn, Christof C.; Kovalenko, Serguei S; Schneeweiss, Andreas A.; Lakhani, Sunil S; Leaming, Amanda A; Leary, Jennifer J; Lim, Jacqueline J; Sawyer, Elinor J. Ej; Lindeman, Geoff G; Dork, Thilo; Lipton, Lara L; Lobb, Liz L; Toland, Amanda E. Ae; Kerin, Michael J. Mj; Mann, Graham G; Marsh, Deborah D; McLachlan, Sue Anne SA; Meiser, Bettina B; Miller, N.; Meldrum, Cliff C; Yannoukakos, Drakoulis D.; Investigators, kConFab; Milne, Roger R; Mitchell, Gillian G; Knight, Julia A. Ja; Newman, Beth B; Group, Australian Ovarian Cancer Study; Nightingale, Sophie S; Andrulis, Irene L. Il; O'Connell, Shona S; Dörk, Thilo T.; Mulligan, Anna Marie AM; O'Loughlin, Imelda I; Collée, J. Margriet JM; Osborne, Richard R; Pachter, Nick N; Patterson, Briony B; Peters, Lester L; Phillips, Kelly K; Price, Melanie M; Purser, Lynne L; Bogdanova, Natalia V. Nv; Reeve, Tony T; Darabi, Hatef H.; Reeve, Jeanne J; Eriksson, Mikael M.; Antonenkova, Natalia N. Nn; Richards, Robert R; Rickard, Edwina E; Garcia-Closas, Montserrat M.; Anton-Culver, Hoda H.; Robinson, Bridget B; Rudzki, Barney B; Figueroa, Jonine J.; Saleh, Mona M; Salisbury, Elizabeth E; Lissowska, Jolanta J.; Sambrook, Joe J; Saunders, Christobel C; Brinton, Louise L.; Saunus, Jodi J; Sayer, Robyn R; Devilee, Peter P.; Seynaeve, Caroline C.; Kirsten, F F; Rutovitz, J J; Clingan, P P; Glasgow, A A; Proietto, A A; Braye, S S; Slager, Susan S.; Otton, G G; Friedlander, M M; Kristensen, Vessela N. Vn; Ferrier, A A; Gard, G G; Nevell, D D; Pavlakis, N N; Camaris, C C; Crouch, R R; Genica, Network; Edwards, L L; Hacker, N N; Australian Ovarian Cancer Study Group, S. S.; Marsden, D D; Robertson, G G; Carter, J J; Dalrymple, C C; Houghton, R R; Lindblom, Annika A.; Russell, P P; Ambrosone, Christine B. Cb; Links, M M; Winqvist, Robert R.; Margolin, Sara S.; Grygiel, J J; Hill, J J; Radice, Paolo P.; Byth, K K; Jaworski, R R; Harnett, P P; Peterlongo, Paolo P.; Purdie, D D; Papadimos, D D; Crandon, A A; Mariani, Paolo P.; Cummings, M M; Hooning, Maartje J. Mj; Barile, Monica M.; Horwood, K K; Martens, John W. M. Jw; Obermair, A A; Perrin, L L; Collee, Jm Margriet; Nicklin, J J; Margriet Collée, J.; Jager, Agnes A.; Davy, M M; Hall, C C; Jakubowska, Anna A.; Dodd, T T; Healy, T T; Pittman, K K; Lubinski, Jan J.; Henderson, D D; Jones, Michael; Jaworska-Bieniek, Katarzyna K.; Miller, J J; Durda, Katarzyna K.; Pierdes, J J; Giles, Graham G. Gg; Challis, D D; McIntosh, R R; Parker, A A; McLean, Catriona C.; Brown, B B; Rome, R R; Brüning, Thomas T.; Grant, P P; Hyde, S S; Laurie, R R; Ko, Yon-Dschun Yd; Robbie, M M; Healy, D D; Brauch, Hiltrud H.; Jobling, T T; Manolitsas, T T; Brenner, Hermann H.; McNealage, J J; Rogers, P P; Haviv, I I; Phillips, K K; Dieffenbach, Aida Karina AK; Rischin, D D; Stegmaier, Christa C.; Fox, S S; Johnson, D D; Swerdlow, Anthony A.; Lade, S S; Loughrey, M M; Arndt, Volker; O'Callaghan, N N; Murray, B B; Mileshkin, L L; Pyman, J J; Neesham, D D; Quinn, M M; Orr, Nick N.; Ashworth, Alan A.; Hamilton, A A; Simard, Jacques J.; Jones, M.; McNally, O O; Ng, L. F Lf; Ganju,; Goldberg, Mark S.; Hammond, I I; McCartney, A A; Labrèche, France F.; Leung, Y Y; Buck, M M; Oehler, Martin K. Mk; Dumont, Martine M.; Baisch, Christian C; Aghmesheh, Morteza M; Amor, David D; Andrews, Lesley L; Pylkäs, Katri K.; Antill, Yoland Y; Jukkola-Vuorinen, Arja A.; Armitage, Shane S; Arnold, Leanne L; Balleine, Rosemary R; Grip, Mervi M.; Bankier, Agnes A; Kataja, Vesa; Bastick, Patti P; Beesley, Jonathan J; Kosma, Veli-Matti Vm; Beilby, John J; Bennett, Barbara B; Hartikainen, Jaana M. Jm; Bennett, Ian I; Hamann, Ute U.; Berry, Geoffrey G; Blackburn, Anneke A; Mannermaa, Arto A.; Bogwitz, Michael M; Bonaventura, T T; Chenevix-Trench, Georgia G.; Begbie, S S; Bell, D D; Baron-Hay, S S; Beale, P P; Beith, J J; Anderson, L L; Brand, A A; Blomqvist, Carl C.; Achan, A A; Aittomäki, Kristiina K.; Blomfield, P P; Easton, Douglas F. Df; Allen, D D; Allan, P P; Nevanlinna, Heli H.; Billson,; Bell, R R; Blum, R R

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Public Library of Science, PLoS ONE, 11(9), p. e109973, 2014

DOI: 10.1371/journal.pone.0109973

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MicroRNA related polymorphisms and breast cancer risk.

Journal article published in 2015 by Anna A deFazio, N N Zeps, Donna D Taylor, Jessica J Taylor, Benjamin B Thierry, Susan S Thomas, Ella E Thompson, Heather H Thorne, Sharron S Townshend, Alison A Trainer, Lan L Tran, Kathy K Tucker, Janet J Tyler, Jane J Visvader, Logan L Walker and other authors.

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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. ; Sofia Khan . kConFab Investigators, Australian Ovarian Cancer Study Group, . The GENICA Network . et al. ; Martin Oehler is a member of the Australian Ovarian Cancer Study Group