Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170
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| dc.contributor.author | Dunning, Alison M.
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| dc.contributor.author | Michailidou, Kyriaki
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| dc.contributor.author | Kuchenbaecker, Karoline B.
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| dc.contributor.author | Thompson, Deborah
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| dc.contributor.author | French, Juliet D.
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| dc.contributor.author | Beesley, Jonathan
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| dc.contributor.author | Healey, Catherine S.
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| dc.contributor.author | Kar, Siddhartha
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| dc.contributor.author | Pooley, Karen A.
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| dc.contributor.author | Lopez-Knowles, Elena
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| dc.contributor.author | Dicks, Ed
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| dc.contributor.author | Barrowdale, Daniel
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| dc.contributor.author | Sinnott-Armstrong, Nicholas A.
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| dc.contributor.author | Sallari, Richard C.
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| dc.contributor.author | Hillman, Kristine M.
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| dc.contributor.author | Kaufmann, Susanne
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| dc.contributor.author | Sivakumaran, Haran
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| dc.contributor.author | Marjaneh, Mahdi Moradi
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| dc.contributor.author | Lee, Jason S.
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| dc.contributor.author | Hills, Margaret
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| dc.contributor.author | Jarosz, Monika
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| dc.contributor.author | Drury, Suzie
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| dc.contributor.author | Canisius, Sander
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| dc.contributor.author | Bolla, Manjeet K.
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| dc.contributor.author | Dennis, Joe
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| dc.contributor.author | Wang, Qin
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| dc.contributor.author | Hopper, John L.
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| dc.contributor.author | Southey, Melissa C.
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| dc.contributor.author | Broeks, Annegien
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| dc.contributor.author | Schmidt, Marjanka K.
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| dc.contributor.author | Lophatananon, Artitaya
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| dc.contributor.author | Muir, Kenneth
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| dc.contributor.author | Beckmann, Matthias W.
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| dc.contributor.author | Fasching, Peter A.
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| dc.contributor.author | Dos-Santos-Silva, Isabel
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| dc.contributor.author | Peto, Julian
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| dc.contributor.author | Sawyer, Elinor J.
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| dc.contributor.author | Tomlinson, Ian
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| dc.contributor.author | Burwinkel, Barbara
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| dc.contributor.author | Marme, Frederik
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| dc.contributor.author | Guenel, Pascal
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| dc.contributor.author | Truong, Therese
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| dc.contributor.author | Bojesen, Stig E.
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| dc.contributor.author | Flyger, Henrik
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| dc.contributor.author | Gonzalez-Neira, Anna
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| dc.contributor.author | Perez, Jose I.A.
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| dc.contributor.author | Anton-Culver, Hoda
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| dc.contributor.author | Eunjung, Lee
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| dc.contributor.author | Arndt, Volker
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| dc.contributor.author | Brenner, Hermann
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| dc.contributor.author | Meindl, Alfons
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| dc.contributor.author | Schmutzler, Rita K.
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| dc.contributor.author | Brauch, Hamann
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| dc.contributor.author | Ute Hiltrud
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| dc.contributor.author | Aittomaki, Kristiina
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| dc.contributor.author | Blomqvist, Carl
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| dc.contributor.author | Ito, Hidemi
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| dc.contributor.author | Matsuo, Keitaro
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| dc.contributor.author | Bogdanova, Natasha
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| dc.contributor.author | Dork, Thilo
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| dc.contributor.author | Lindblom, Margolin
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| dc.contributor.author | Sara Annika
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| dc.contributor.author | Kosma, Veli-Matti
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| dc.contributor.author | Mannermaa, Arto
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| dc.contributor.author | Tseng, Chiu-chen
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| dc.contributor.author | Wu, Anna H.
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| dc.contributor.author | Lambrechts, Diether
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| dc.contributor.author | Wildiers, Hans
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| dc.contributor.author | Chang-Claude, Jenny
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| dc.contributor.author | Rudolph, Anja
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| dc.contributor.author | Peterlongo, Paolo
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| dc.contributor.author | Radice, Paolo
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| dc.contributor.author | Olson, Janet E.
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| dc.contributor.author | Giles, Graham G.
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| dc.contributor.author | Milne, Roger L.
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| dc.contributor.author | Haiman, Christopher A.
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| dc.contributor.author | Henderson, Brian E.
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| dc.contributor.author | Goldberg, Mark S.
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| dc.contributor.author | Teo, Soo H.
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| dc.contributor.author | Yip, Cheng Har
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| dc.contributor.author | Silje, Nord
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| dc.contributor.author | Borresen-Dale, Anne-Lise
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| dc.contributor.author | Kristensen, Vessela
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| dc.contributor.author | Long, Jirong
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| dc.contributor.author | Zheng, Wei
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| dc.contributor.author | Pylkas, Katri
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| dc.contributor.author | Winqvist, Robert
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| dc.contributor.author | Andrulis, Irene L.
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| dc.contributor.author | Devilee, Peter
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| dc.contributor.author | Seynaeve, Caroline
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| dc.contributor.author | Figueroa, Jonine
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| dc.contributor.author | Sherman, Mark E.
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| dc.contributor.author | Czene, Kamila
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| dc.contributor.author | Darabi, Hatef
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| dc.contributor.author | Hollestelle, Antoinette
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| dc.contributor.author | Van den Ouweland, Ans M.W.
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| dc.contributor.author | Humphreys, Keith
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| dc.contributor.author | Gao, Yu-Tang
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| dc.contributor.author | Shu, Xiao-Ou
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| dc.contributor.author | Cox, Angela
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| dc.contributor.author | Cross, Simon S.
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| dc.contributor.author | Blot, William
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| dc.contributor.author | Cai, Qiuyin
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| dc.contributor.author | Ghoussaini, Maya
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| dc.contributor.author | Perkins, Babara J.
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| dc.contributor.author | Shah, Mitul
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| dc.contributor.author | Choi, Ji-Yeob
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| dc.contributor.author | Kang, Daehee
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| dc.contributor.author | Lee, Soo Chin
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| dc.contributor.author | Hartman, Mikael
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| dc.contributor.author | Kabisch, Maria
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| dc.contributor.author | Torres, Diana
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| dc.contributor.author | Jakubowska, Anna
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| dc.contributor.author | Lubinski, Jan
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| dc.contributor.author | Brennan, Paul
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| dc.contributor.author | Sangrajrang, Suleeporn
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| dc.contributor.author | Ambrosone, Christine B.
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| dc.contributor.author | Toland, Amanda Ewart
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| dc.contributor.author | Shen, Chen-Yang
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| dc.contributor.author | Wu, Pei-Ei
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| dc.contributor.author | Orr, Nick
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| dc.contributor.author | Swerdlow, Anthony
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| dc.contributor.author | McGuffog, Lesley
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| dc.contributor.author | Healey, Sue
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| dc.contributor.author | Lee, Andrew
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| dc.contributor.author | Kapuscinski, Miroslav
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| dc.contributor.author | John, Esther M.
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| dc.contributor.author | Terry, Mary Beth
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| dc.contributor.author | Daly, Mary B.
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| dc.contributor.author | Goldgar, David E.
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| dc.contributor.author | Buys, Saundra S.
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| dc.contributor.author | Janavicius, Ramunas
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| dc.contributor.author | Tihomirova, Laima
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| dc.contributor.author | Tung, Nadine
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| dc.contributor.author | Dorfling, Cecilia Maria
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| dc.contributor.author | Janse van Rensburg, E.S. (Elsie)
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| dc.contributor.author | Neuhausen, Susan L.
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| dc.contributor.author | Ejlertsen, Bent
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| dc.contributor.author | Hansen, Thomas V.O.
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| dc.contributor.author | Osorio, Ana
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| dc.contributor.author | Benitez, Javier
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| dc.contributor.author | Rando, Rachel
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| dc.contributor.author | Weitzel, Jeffrey N.
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| dc.contributor.author | Bonanni, Bernardo
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| dc.contributor.author | Peissel, Bernard
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| dc.contributor.author | Manoukian, Siranoush
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| dc.contributor.author | Papi, Laura
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| dc.contributor.author | Ottini, Laura
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| dc.contributor.author | Konstantopoulou, Irene
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| dc.contributor.author | Apostolou, Paraskevi
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| dc.contributor.author | Frost, Debra
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| dc.contributor.author | Rashid, Muhammad Usman
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| dc.contributor.author | EMBRACE
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| dc.contributor.author | Bogdanova-Markov, Nadja
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| dc.contributor.author | Sagne, Charlotte
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| dc.contributor.author | Stoppa-Lyonnet, Dominique
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| dc.contributor.author | GEMO Study Collaborators
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| dc.contributor.author | kConFab Investigators
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| dc.contributor.author | Nussbaum, Robert L.
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| dc.contributor.author | Nathanson, Katherine L.
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| dc.contributor.author | Domchek, Susan M.
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| dc.contributor.author | Arun, Banu K.
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| dc.contributor.author | Karlan, Beth Y.
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| dc.contributor.author | Lester, Jenny
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| dc.contributor.author | Maskarinec, Gertraud
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| dc.contributor.author | Scott, Christopher
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| dc.contributor.author | Dowsett, Mitch
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| dc.contributor.author | Simard, Jacques
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| dc.contributor.author | Hall, Per
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| dc.contributor.author | García-Closas, Montserrat
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| dc.contributor.author | Vachon, Celine
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| dc.contributor.author | Chenevix-Trench, Georgia
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| dc.contributor.author | Antoniou, Antonis C.
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| dc.contributor.author | Easton, Douglas F.
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| dc.contributor.author | Edwards, Stacey L.
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| dc.date.accessioned | 2016-08-01T05:16:58Z | |
| dc.date.issued | 2016-04 | |
| dc.description.abstract | We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor a) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER+ or ER−) and human ERBB2 (HER2+ or HER2−) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER− tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression. | en_ZA |
| dc.description.department | Genetics | en_ZA |
| dc.description.embargo | 2016-10-31 | |
| dc.description.librarian | am2016 | en_ZA |
| dc.description.sponsorship | Funding for the iCOGS infrastructure came from the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS), Cancer Research UK (C1287/A10118, C1287/A10710, C12292/A11174, C1281/A12014, C5047/A8384, C5047/A15007, C5047/A10692 and C8197/A16565), the US National Institutes of Health (NIH; CA128978, CA192393, CA116167, CA176785 and an NIH Specialized Program of Research Excellence (SPORE) in Breast Cancer (CA116201)) and Post-Cancer GWAS initiative (1U19 CA148537, 1U19 CA148065 and 1U19 CA148112, the GAME-ON initiative), the US Department of Defense (W81XWH-10-1-0341), the Canadian Institutes of Health Research (CIHR) for the CIHR Team in Familial Risks of Breast Cancer, the Komen Foundation for the Cure, the Breast Cancer Research Foundation and the Ovarian Cancer Research Fund. | en_ZA |
| dc.description.uri | http://www.nature.com/ng | en_ZA |
| dc.identifier.citation | Dunning, AM, Michailidou, K, Kuchenbaecker, KB, Thompson, D, French, JD, Beesley, J, Healey, CS, Kar, S, Pooley, KA, Lopez-Knowles, E, Dicks, E, Barrowdale, D, Sinnott-Armstrong, NA, Sallari, RC, Hillman, KM, Kaufmann, S, Sivakumaran, H, Marjaneh, MM, Lee, JS, Hills, M, Jarosz, M, Drury, S, Canisius, S, Bolla, MK, Dennis, J, Wang, Q, Hopper, JL, Southey, MC, Broeks, A, Schmidt, MK, Lophatananon, A, Muir, K,Beckmann, MW, Fasching, PA,Ddos-Santos-Silva, I, Peto, J, Sawyer, EJ, Tomlinson, I, Burwinkel, B, Marme, F, Guenel, P, Truong, T, EBojesen, S, Flyger, H, González-Neira, A, Perez, JIA, Anton-Culver, H, Eunjung, L, Arndt, V, Hermann BrennerH, Meindl, A, Schmutzler, RK, Brauch, H, Hamann, U, Aittomaki, K, Blomqvist, C, Ito, H, Matsuo, K, Bogdanova, N, Dork, T, Lindblom, A, Margolin, S, Kosma, V-M, Mannermaa, A, Tseng, C-C, Wu, AH, Lambrechts, D, Wildiers, H, Chang-Claude, J, Rudolph, A, Peterlongo, P, Radice, P, Olson, JE, Giles, GG, Milne, RL, Haiman, CA, Henderson, BE, Goldberg, MS, Teo, SH, Yip, CH, Nord, S, Borresen-Dale, A-L, Kristensen, V, Long, J, Zheng, W, Pylkas, K, Winqvist, R, Andrulis, IL, Knight, JA, Devilee, P, Seynaeve, C, Figueroa, J, ESherman, M, Czene, K, Darabi, H, Hollestelle, A, van den Ouweland, AMW, Humphreys, K, Gao, Y-T, Shu, X-O, Cox, A, Cross, SS, Blot, W, Cai, Q, Ghoussaini, M, Perkins, BJ, Shah, M, Choi, J-Y, Kang, D, Lee, SC, Hartman, M, Kabisch, M, Torres, D, Jakubowska, A, Lubinski, J, Brennan, P, Sangrajrang, S, Ambrosone, CB, Toland, AE, Shen, C-Y, Wu, P-E, Orr, N, Swerdlow, A, McGuffog, L, Healey, S, Lee, A, Kapuscinski, M, John, EM, Terry, MB, Daly, MB, Goldgar, DE, Buys, SS, Janavicius, R, Tihomirova, L, Tung, N, Dorfling, CM, Van Rensburg, EJ, Neuhausen, SL, Ejlertsen, B, Hansen, TVO, Osorio, A, Benitez, J, Rando, R, Weitzel, JN, Bonanni, B, Peissel, B, Manoukian, S, Papi, L, Ottini, L, Konstantopoulou, I, Apostolou, P, Garber, J, Rashid, MU, Frost, D, EMBRACE, Izatt, L, Ellis, S, Godwin, AK, Arnold, N, Niederacher, D, Rhiem, K, Bogdanova-Markov, N, Sagne, C, Stoppa-Lyonnet, D, Damiola, F, GEMO Study Collaborators, Sinilnikova, OM, Mazoyer, S, Isaacs, C, Claes, KBM, De Leeneer, K, De la Hoya, M, Caldes, T, Nevanlinna, H, Khan, S, Mensenkamp, AR, HEBON, Hooning, MJ, Rookus, MA, Kwong, A, Olah, E, Diez, O, Brunet, J, Pujana, MA, Gronwald, J, Huzarski, T, Barkardottir, RB, Laframboise, R, Soucy, P, Montagna, M, Agata, S, Teixeira, MR, kConFab Investigators, Park, SK, Lindor, N, Couch, FJ, Tischkowitz, M, Foretova, L, Vijai, J, Offit, K, Singer, CF, Rappaport, C, Phelan, CM, Greene, MH, Mai, PL, Rennert, G, NImyanitov, E, Hulick, PJ, Phillips, K-A, Piedmonte, M, Mulligan, AM, Glendon, G, Bojesen, A, Thomassen, M, Caligo, MA, Yoon, S-Y, Friedman, E, Laitman, Y, Borg, A, Von Wachenfeldt, A, Ehrencrona, H, Rantala, J, Olopade, OI, Ganz, PA, Nussbaum, RL, Gayther, SA, Nathanson, KL, Domchek, SM, Karun, B, Mitchell, G, Karlan, BY, Lester, J, Maskarinec, G, Woolcott, C, Scott, C, Stone, J, Apicella, C, Tamimi, R, Luben, R, Khaw, K-T, Helland, A, Haakensen, V, Dowsett, M, Pharoah, PDP, Simard, J, Hall, P, García-Closas, M, Vachon, C, Chenevix-Trench, G, Antoniou, AC, Easton, DF & Edwards, SL 2016, ‘Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170', Nature Genetics, vol. 48, no. 4, pp. 374-388. | en_ZA |
| dc.identifier.issn | 1061-4036 (print) | |
| dc.identifier.issn | 1546-1718 (online) | |
| dc.identifier.other | 10.1038/ng.3521 | |
| dc.identifier.uri | http://hdl.handle.net/2263/56135 | |
| dc.language.iso | en | en_ZA |
| dc.publisher | Nature Publishing Group | en_ZA |
| dc.rights | © 2016 Nature America, Inc. All rights reserved. | en_ZA |
| dc.subject | Variants | en_ZA |
| dc.subject | Estrogen Receptor 1 (ESR1) | en_ZA |
| dc.subject | Coiled-coil domain containing 170 (CCDC170) | en_ZA |
| dc.subject | Required for meiotic nuclear division 1 (RMND1) | en_ZA |
| dc.title | Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170 | en_ZA |
| dc.type | Article | en_ZA |
