Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

French, Juliet D., Ghoussaini, Maya, Edwards, Stacey L., Meyer, Kerstin B., Michailidou, Kyriaki, Ahmed, Shahana, Khan, Sofia, Maranian, Mel J., O'Reilly, Martin, Hillman, Kristine M., Betts, Joshua A., Carro, Thomas, Bailey, Peter J., Dicks, Ed, Beesley, Jonathan, Tyrer, Jonathan, Maia, Ana-Teresa, Beck, Andrew, Knoblauch, Nicholas W., Chen, Constance, Kraft, Peter, Barnes, Daniel, Gonzalez-Neira, Anna, Rosario Alonso, M., Herrero, Daniel, Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Luccarini, Craig, Baynes, Caroline, Conroy, Don, Dennis, Joe, Bolla, Manjeet K., Wang, Qin, Hopper, John L., Southey, Melissa C., Schmidt, Marjanka K., Broeks, Annegien, Verhoef, Senno, Cornelissen, Sten, Muir, Kenneth, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pomthep, Fasching, Peter A., Loehberg, Christian R., Ekici, Arif B., Beckmann, Matthias W., Peto, Julian, Silva, Isabel dos Santos, Johnson, Nichola, Aitken, Zoe, Sawyer, Elinor J., Tomlinson, Ian, Kerin, Michael J., Miller, Nicola, Marme, Frederik, Schneeweiss, Andreas, Sohn, Christof, Burwinkel, Barbara, Guenel, Pascal, Therese Truong, Laurent-Puig, Pierre, Menegaux, Florence, Bojesen, Stig E., Nordestgaard, Norge G., Nielsen, Sune F., Flyger, Henrik, Milne, Roger L., Pilar Zamora, M., Arias Perez, Jose Ignacio, Benitez, Javier, Anton-Culver, Hoda, Brenner, Hermann, Mueller, Heiko, Arndt, Volker, Stegmaier, Christa, Meind, Alfons, Lichtner, Peter, Schmutzler, Rita K., Engel, Christoph, Brauch, Hiltrud, Hamann, Ute, Justenhoven, Christina, The GENICA Network, Aaltonen, Kirsimari, Heikkila, Paivi, Aittomaki, Kristiina, Blomqvist, Carl, Matsuo, Keitaro, Ito, Hidemi, Iwata, Hiroji, Sueta, Aiko, Bogdanova, Natalia V., Antonenkova, Natalia N., Dork, Thilo, Lindblom, Annika, Margolin, Sara, Mannermaa, Arto, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M., Wu, Anna H., Tseng, Chiu-chen, Van Den Berg, David, Stram, Daniel O., Lambrechts, Diether, Peeters, Stephanie, Smeets, Ann, Floris, Giuseppe, Chang-Claude, Jenny, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Radice, Paolo, Peterlongo, Paolo, Bonanni, Bernardo, Sardella, Domenico, Couch, Fergus J., Wang, Xianshu, Pankratz, Vernon S., Lee, Adam, Giles, Graham G., Severi, Gianluca, Baglietto, Laura, Haiman, Christopher A., Henderson, Brian E., Schumacher, Fredrick, Le Marchand, Loic, Simard, Jacques, Goldberg, Mark S., Labreche, France, Dumont, Martine, Teo, Soo Hwang, Yip, Cheng Har, Ng, Char-Hong, Vithana, Eranga Nishanthie, Kristensen, Vessela, Zheng, Wei, Deming-Halverson, Sandra, Shrubsole, Martha, Long, Jirong, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anna Marie, Devilee, Peter, Seynaeve, Caroline, Garcia-Closas, Montserrat, Figueroa, Jonine, Chanock, Stephen J., Lissowska, Jolanta, Czene, Kamila, Klevebring, Daniel, Schoof, Nils, Hooning, Maartje J., Martens, John W. M., Collee, J. Margriet, Tilanus-Linthorst, Madeleine, Hall, Per, Li, Jingmei, Liu, Jianjun, Humphreys, Keith, Shu, Xiao-Ou, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Cox, Angela, Balasubramanian, Sabapathy P., Blot, William, Signorello, Lisa B., Cai, Qiuyin, Pharoah, Paul D. P., Healey, Catherine S., Shah, Mitul, Pooley, Karen A., Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Hartman, Mikael, Miao, Hui, Sng, Jen-Hwei, Sim, Xueling, Jakubowska, Anna, Lubinski, Jan, Jaworska-Bieniek, Katarzyna, Durda, Katarzyna, Sangrajrang, Suleeporn, Gaborieau, Valerie, McKay, James, Toland, Amanda E., Ambrosone, Christine B., Yannoukakos, Drakoulis, Godwin, Andrew K., Shen, Chen-Yang, Hsiung, Chia-Ni, Wu, Pei-Ei, Chen, Shou-Tung, Swerdlow, Anthony, Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Ponder, Bruce A. J., Nevanlinna, Heli, Brown, Melissa A., Chenevix-Trench, Georgia, Easton, Douglas F. and Dunning, Alison M. (2013) Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. American Journal of Human Genetics, 92 4: 489-503. doi:10.1016/j.ajhg.2013.01.002

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Author French, Juliet D.
Ghoussaini, Maya
Edwards, Stacey L.
Meyer, Kerstin B.
Michailidou, Kyriaki
Ahmed, Shahana
Khan, Sofia
Maranian, Mel J.
O'Reilly, Martin
Hillman, Kristine M.
Betts, Joshua A.
Carro, Thomas
Bailey, Peter J.
Dicks, Ed
Beesley, Jonathan
Tyrer, Jonathan
Maia, Ana-Teresa
Beck, Andrew
Knoblauch, Nicholas W.
Chen, Constance
Kraft, Peter
Barnes, Daniel
Gonzalez-Neira, Anna
Rosario Alonso, M.
Herrero, Daniel
Tessier, Daniel C.
Vincent, Daniel
Bacot, Francois
Luccarini, Craig
Baynes, Caroline
Conroy, Don
Dennis, Joe
Bolla, Manjeet K.
Wang, Qin
Hopper, John L.
Southey, Melissa C.
Schmidt, Marjanka K.
Broeks, Annegien
Verhoef, Senno
Cornelissen, Sten
Muir, Kenneth
Lophatananon, Artitaya
Stewart-Brown, Sarah
Siriwanarangsan, Pomthep
Fasching, Peter A.
Loehberg, Christian R.
Ekici, Arif B.
Beckmann, Matthias W.
Peto, Julian
Silva, Isabel dos Santos
Johnson, Nichola
Aitken, Zoe
Sawyer, Elinor J.
Tomlinson, Ian
Kerin, Michael J.
Miller, Nicola
Marme, Frederik
Schneeweiss, Andreas
Sohn, Christof
Burwinkel, Barbara
Guenel, Pascal
Therese Truong
Laurent-Puig, Pierre
Menegaux, Florence
Bojesen, Stig E.
Nordestgaard, Norge G.
Nielsen, Sune F.
Flyger, Henrik
Milne, Roger L.
Pilar Zamora, M.
Arias Perez, Jose Ignacio
Benitez, Javier
Anton-Culver, Hoda
Brenner, Hermann
Mueller, Heiko
Arndt, Volker
Stegmaier, Christa
Meind, Alfons
Lichtner, Peter
Schmutzler, Rita K.
Engel, Christoph
Brauch, Hiltrud
Hamann, Ute
Justenhoven, Christina
The GENICA Network
Aaltonen, Kirsimari
Heikkila, Paivi
Aittomaki, Kristiina
Blomqvist, Carl
Matsuo, Keitaro
Ito, Hidemi
Iwata, Hiroji
Sueta, Aiko
Bogdanova, Natalia V.
Antonenkova, Natalia N.
Dork, Thilo
Lindblom, Annika
Margolin, Sara
Mannermaa, Arto
Kataja, Vesa
Kosma, Veli-Matti
Hartikainen, Jaana M.
Wu, Anna H.
Tseng, Chiu-chen
Van Den Berg, David
Stram, Daniel O.
Lambrechts, Diether
Peeters, Stephanie
Smeets, Ann
Floris, Giuseppe
Chang-Claude, Jenny
Rudolph, Anja
Nickels, Stefan
Flesch-Janys, Dieter
Radice, Paolo
Peterlongo, Paolo
Bonanni, Bernardo
Sardella, Domenico
Couch, Fergus J.
Wang, Xianshu
Pankratz, Vernon S.
Lee, Adam
Giles, Graham G.
Severi, Gianluca
Baglietto, Laura
Haiman, Christopher A.
Henderson, Brian E.
Schumacher, Fredrick
Le Marchand, Loic
Simard, Jacques
Goldberg, Mark S.
Labreche, France
Dumont, Martine
Teo, Soo Hwang
Yip, Cheng Har
Ng, Char-Hong
Vithana, Eranga Nishanthie
Kristensen, Vessela
Zheng, Wei
Deming-Halverson, Sandra
Shrubsole, Martha
Long, Jirong
Winqvist, Robert
Pylkas, Katri
Jukkola-Vuorinen, Arja
Grip, Mervi
Andrulis, Irene L.
Knight, Julia A.
Glendon, Gord
Mulligan, Anna Marie
Devilee, Peter
Seynaeve, Caroline
Garcia-Closas, Montserrat
Figueroa, Jonine
Chanock, Stephen J.
Lissowska, Jolanta
Czene, Kamila
Klevebring, Daniel
Schoof, Nils
Hooning, Maartje J.
Martens, John W. M.
Collee, J. Margriet
Tilanus-Linthorst, Madeleine
Hall, Per
Li, Jingmei
Liu, Jianjun
Humphreys, Keith
Shu, Xiao-Ou
Lu, Wei
Gao, Yu-Tang
Cai, Hui
Cox, Angela
Balasubramanian, Sabapathy P.
Blot, William
Signorello, Lisa B.
Cai, Qiuyin
Pharoah, Paul D. P.
Healey, Catherine S.
Shah, Mitul
Pooley, Karen A.
Kang, Daehee
Yoo, Keun-Young
Noh, Dong-Young
Hartman, Mikael
Miao, Hui
Sng, Jen-Hwei
Sim, Xueling
Jakubowska, Anna
Lubinski, Jan
Jaworska-Bieniek, Katarzyna
Durda, Katarzyna
Sangrajrang, Suleeporn
Gaborieau, Valerie
McKay, James
Toland, Amanda E.
Ambrosone, Christine B.
Yannoukakos, Drakoulis
Godwin, Andrew K.
Shen, Chen-Yang
Hsiung, Chia-Ni
Wu, Pei-Ei
Chen, Shou-Tung
Swerdlow, Anthony
Ashworth, Alan
Orr, Nick
Schoemaker, Minouk J.
Ponder, Bruce A. J.
Nevanlinna, Heli
Brown, Melissa A.
Chenevix-Trench, Georgia
Easton, Douglas F.
Dunning, Alison M.
Total Author Count Override 212
Title Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
Journal name American Journal of Human Genetics   Check publisher's open access policy
ISSN 0002-9297
1537-6605
Publication date 2013-04
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.ajhg.2013.01.002
Open Access Status
Volume 92
Issue 4
Start page 489
End page 503
Total pages 15
Place of publication Cambridge, MA, United States
Publisher Cell Press
Collection year 2014
Language eng
Abstract Analysis of 4,405 variants in 89,050 European subjects from 41 case-control studies identified three independent association signals for estrogen-receptor-positive tumors at 11q13. The strongest signal maps to a transcriptional enhancer element in which the G allele of the best candidate causative variant rs554219 increases risk of breast cancer, reduces both binding of ELK4 transcription factor and luciferase activity in reporter assays, and may be associated with low cyclin D1 protein levels in tumors. Another candidate variant, rs78540526, lies in the same enhancer element. Risk association signal 2, rs75915166, creates a GATA3 binding site within a silencer element. Chromatin conformation studies demonstrate that these enhancer and silencer elements interact with each other and with their likely target gene, CCND1.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2014 Collection
School of Chemistry and Molecular Biosciences
School of Medicine Publications
 
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