@article{7193339,
  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.}},
  author       = {{Dunning, Alison M and Michailidou, Kyriaki and Kuchenbaecker, Karoline B and Thompson, Deborah and French, Juliet D and Beesley, Jonathan and Healey, Catherine S and Kar, Siddhartha and Pooley, Karen A and Lopez-Knowles, Elena and Dicks, Ed and Barrowdale, Daniel and Sinnott-Armstrong, Nicholas A and Sallari, Richard C and Hillman, Kristine M and Kaufmann, Susanne and Sivakumaran, Haran and Marjaneh, Mahdi Moradi and Lee, Jason S and Hills, Margaret and Jarosz, Monika and Drury, Suzie and Canisius, Sander and Bolla, Manjeet K and Dennis, Joe and Wang, Qin and Hopper, John L and Southey, Melissa C and Broeks, Annegien and Schmidt, Marjanka K and Lophatananon, Artitaya and Muir, Kenneth and Beckmann, Matthias W and Fasching, Peter A and dos-Santos-Silva, Isabel and Peto, Julian and Sawyer, Elinor J and Tomlinson, Ian and Burwinkel, Barbara and Marme, Frederik and Guenel, Pascal and Truong, Therese and Bojesen, Stig E and Flyger, Henrik and Gonzalez-Neira, Anna and Perez, Jose IA and Anton-Culver, Hoda and Eunjung, Lee and Arndt, Volker and Brenner, Hermann and Meindl, Alfons and Schmutzler, Rita K and Brauch, Hiltrud and Hamann, Ute and Aittomaki, Kristiina and Blomqvist, Carl and Ito, Hidemi and Matsuo, Keitaro and Bogdanova, Natasha and Dork, Thilo and Lindblom, Annika and Margolin, Sara and Kosma, Veli-Matti and Mannermaa, Arto and Tseng, Chiu-chen and Wu, Anna H and Lambrechts, Diether and Wildiers, Hans and Chang-Claude, Jenny and Rudolph, Anja and Peterlongo, Paolo and Radice, Paolo and Olson, Janet E and Giles, Graham G and Milne, Roger L and Haiman, Christopher A and Henderson, Brian E and Goldberg, Mark S and Teo, Soo H and Yip, Cheng Har and Nord, Silje and Borresen-Dale, Anne-Lise and Kristensen, Vessela and Long, Jirong and Zheng, Wei and Pylkas, Katri and Winqvist, Robert and Andrulis, Irene L and Knight, Julia A and Devilee, Peter and Seynaeve, Caroline and Figueroa, Jonine and Sherman, Mark E and Czene, Kamila and Darabi, Hatef and Hollestelle, Antoinette and van den Ouweland, Ans MW and Humphreys, Keith and Gao, Yu-Tang and Shu, Xiao-Ou and Cox, Angela and Cross, Simon S and Blot, William and Cai, Qiuyin and Ghoussaini, Maya and Perkins, Barbara J and Shah, Mitul and Choi, Ji-Yeob and Kang, Daehee and Lee, Soo Chin and Hartman, Mikael and Kabisch, Maria and Torres, Diana and Jakubowska, Anna and Lubinski, Jan and Brennan, Paul and Sangrajrang, Suleeporn and Ambrosone, Christine B and Toland, Amanda E and Shen, Chen-Yang and Wu, Pei-Ei and Orr, Nick and Swerdlow, Anthony and McGuffog, Lesley and Healey, Sue and Lee, Andrew and Kapuscinski, Miroslav and John, Esther M and Terry, Mary Beth and Daly, Mary B and Goldgar, David E and Buys, Saundra S and Janavicius, Ramunas and Tihomirova, Laima and Tung, Nadine and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Neuhausen, Susan L and Ejlertsen, Bent and Hansen, Thomas VO and Osorio, Ana and Benitez, Javier and Rando, Rachel and Weitzel, Jeffrey N and Bonanni, Bernardo and Peissel, Bernard and Manoukian, Siranoush and Papi, Laura and Ottini, Laura and Konstantopoulou, Irene and Apostolou, Paraskevi and Garber, Judy and Rashid, Muhammad Usman and Frost, Debra and Izatt, Louise and Ellis, Steve and Godwin, Andrew K and Arnold, Norbert and Niederacher, Dieter and Rhiem, Kerstin and Bogdanova-Markov, Nadja and Sagne, Charlotte and Stoppa-Lyonnet, Dominique and Damiola, Francesca and Sinilnikova, Olga M and Mazoyer, Sylvie and Isaacs, Claudine and Claes, Kathleen and De Leeneer, Kim and De la Hoya, Miguel and Caldes, Trinidad and Nevanlinna, Heli and Khan, Sofia and Mensenkamp, Arjen R and Hooning, Maartje J and Rookus, Matti A and Kwong, Ava and Olah, Edith and Diez, Orland and Brunet, Joan and Pujana, Miquel Angel and Gronwald, Jacek and Huzarski, Tomasz and Barkardottir, Rosa B and Laframboise, Rachel and Soucy, Penny and Montagna, Marco and Agata, Simona and Teixeira, Manuel R and Park, Sue Kyung and Lindor, Noralane and Couch, Fergus J and Tischkowitz, Marc and Foretova, Lenka and Vijai, Joseph and Offit, Kenneth and Singer, Christian F and Rappaport, Christine and Phelan, Catherine M and Greene, Mark H and Mai, Phuong L and Rennert, Gad and Imyanitov, Evgeny N and Hulick, Peter J and Phillips, Kelly-Anne and Piedmonte, Marion and Mulligan, Anna Marie and Glendon, Gord and Bojesen, Anders and Thomassen, Mads and Caligo, Maria A and Yoon, Sook-Yee and Friedman, Eitan and Laitman, Yael and Borg, Ake and Von Wachenfeldt, Anna and Ehrencrona, Hans and Rantala, Johanna and Olopade, Olufunmilayo I and Ganz, Patricia A and Nussbaum, Robert L and Gayther, Simon A and Nathanson, Katherine L and Domchek, Susan M and Arun, Banu K and Mitchell, Gillian and Karlan, Beth Y and Lester, Jenny and Maskarinec, Gertraud and Woolcott, Christy and Scott, Christopher and Stone, Jennifer and Apicella, Carmel and Tamimi, Rulla and Luben, Robert and Khaw, Kay-Tee and Helland, Aslaug and Haakensen, Vilde and Dowsett, Mitch and Pharoah, Paul DP and Simard, Jacques and Hall, Per and Garcia-Closas, Montserrat and Vachon, Celine and Chenevix-Trench, Georgia and Antoniou, Antonis C and Easton, Douglas F and Edwards, Stacey L}},
  issn         = {{1061-4036}},
  journal      = {{NATURE GENETICS}},
  keywords     = {{BRCA2 MUTATION CARRIERS,GENOME-WIDE ASSOCIATION,BONE-MINERAL DENSITY,MAMMOGRAPHIC DENSITY,SUSCEPTIBILITY LOCUS,METAANALYSIS,EXPRESSION,MODIFIERS,REVEALS,DISEASE}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{374--386}},
  title        = {{Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170}},
  url          = {{http://doi.org/10.1038/ng.3521}},
  volume       = {{48}},
  year         = {{2016}},
}

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