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Functional Variants at the 11q13 Risk Locus for Breast Cancer Regulate Cyclin D1 Expression through Long-Range Enhancers
French, J D; Ghoussaini, M; Edwards, S L; Meyer, K B; Michailidou, K; Ahmed, S; Khan, S; Maranian, M J; O'Reilly, M; Hillman, K M; Betts, J A; Carroll, T; Bailey, P J; Dicks, E; Beesley, J; Tyrer, J; Maia, A T; Beck, A; Knoblauch, N W; Chen, C; Kraft, P; Barnes, D; Gonzalez-Neira, A; Alonso, M R; Herrero, D; Tessier, D C; Vincent, D; Bacot, F; Luccarini, C; Baynes, C; Conroy, D; Dennis, J; Bolla, M K; Wang, Q; Hopper, J L; Southey, M C; Schmidt, M K; Broeks, A; Verhoef, S; Cornelissen, S; Muir, K; Lophatananon, A; Stewart-Brown, S; Siriwanarangsan, P; Fasching, P A; Loehberg, C R; Ekici, A B; Beckmann, M W; Peto, J; Dos Santos Silva, I; Johnson, N; Aitken, Z; Sawyer, E J; Tomlinson, I; Kerin, M J; Miller, N; Marme, F; Schneeweiss, A; Sohn, C; Burwinkel, B; Guenel, P; Truong, T; Laurent-Puig, P; Menegaux, F; Bojesen, S E; Nordestgaard, B G; Nielsen, S F; Flyger, H; Milne, R L; Zamora, M P; Arias Perez, J I; Benitez, J; Anton-Culver, H; Brenner, H; Muller, H; Arndt, V; Stegmaier, C; Meindl, A; Lichtner, P; Schmutzler, R K; Engel, C; Brauch, H; Hamann, U; Justenhoven, C; Aaltonen, K; Heikkila, P; Aittomaki, K; Blomqvist, C; Matsuo, K; Ito, H; Iwata, H; Sueta, A; Bogdanova, N V; Antonenkova, N N; Dork, T; Lindblom, A; Margolin, S; Mannermaa, A; Kataja, V; Kosma, V M; Hartikainen, J M; Wu, A H; Tseng, C C; Van Den Berg, D; Stram, D O; Lambrechts, D; Peeters, S; Smeets, A; Floris, G; Chang-Claude, J; Rudolph, A; Nickels, S; Flesch-Janys, D; Radice, P; Peterlongo, P; Bonanni, B; Sardella, D; Couch, F J; Wang, X; Pankratz, V S; Lee, A; Giles, G G; Severi, G; Baglietto, L; Haiman, C A; Henderson, B E; Schumacher, F; Le Marchand, L; Simard, J; Goldberg, M S; Labreche, F; Dumont, M; Teo, S H; Yip, C H; Ng, C H; Vithana, E N; Kristensen, V; Zheng, W; Deming-Halverson, S; Shrubsole, M; Long, J; Winqvist, R; Pylkas, K; Jukkola-Vuorinen, A; Grip, M; Andrulis, I L; Knight, J A; Glendon, G; Mulligan, A M; Devilee, P; Seynaeve, C; Garcia-Closas, M; Figueroa, J; Chanock, S J; Lissowska, J; Czene, K; Klevebring, D; Schoof, N; Hooning, M J; Martens, J W; Collee, J M; Tilanus-Linthorst, M; Hall, P; Li, J; Liu, J; Humphreys, K; Shu, X O; Lu, W; Gao, Y T; Cai, H; Cox, A; Balasubramanian, S P; Blot, W; Signorello, L B; Cai, Q; Pharoah, P D; Healey, C S; Shah, M; Pooley, K A; Kang, D; Yoo, K Y; Noh, D Y; Hartman, M; Miao, H; Sng, J H; Sim, X; Jakubowska, A; Lubinski, J; Jaworska-Bieniek, K; Durda, K; Sangrajrang, S; Gaborieau, V; McKay, J; Toland, A E; Ambrosone, C B; Yannoukakos, D; Godwin, A K; Shen, C Y; Hsiung, C N; Wu, P E; Chen, S T; Swerdlow, A; Ashworth, A; Orr, N; Schoemaker, M J; Ponder, B A; Nevanlinna, H; Brown, M A; Chenevix-Trench, G; Easton, D F; Dunning, A M
Am J Hum Genet. 2013;92(4):489-503.
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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.
Bibliographic metadata
- French, J D
- Ghoussaini, M
- Edwards, S L
- Meyer, K B
- Michailidou, K
- Ahmed, S
- Khan, S
- Maranian, M J
- O'Reilly, M
- Hillman, K M
- Betts, J A
- Carroll, T
- Bailey, P J
- Dicks, E
- Beesley, J
- Tyrer, J
- Maia, A T
- Beck, A
- Knoblauch, N W
- Chen, C
- Kraft, P
- Barnes, D
- Gonzalez-Neira, A
- Alonso, M R
- Herrero, D
- Tessier, D C
- Vincent, D
- Bacot, F
- Luccarini, C
- Baynes, C
- Conroy, D
- Dennis, J
- Bolla, M K
- Wang, Q
- Hopper, J L
- Southey, M C
- Schmidt, M K
- Broeks, A
- Verhoef, S
- Cornelissen, S
- Muir, K
- Lophatananon, A
- Stewart-Brown, S
- Siriwanarangsan, P
- Fasching, P A
- Loehberg, C R
- Ekici, A B
- Beckmann, M W
- Peto, J
- Dos Santos Silva, I
- Johnson, N
- Aitken, Z
- Sawyer, E J
- Tomlinson, I
- Kerin, M J
- Miller, N
- Marme, F
- Schneeweiss, A
- Sohn, C
- Burwinkel, B
- Guenel, P
- Truong, T
- Laurent-Puig, P
- Menegaux, F
- Bojesen, S E
- Nordestgaard, B G
- Nielsen, S F
- Flyger, H
- Milne, R L
- Zamora, M P
- Arias Perez, J I
- Benitez, J
- Anton-Culver, H
- Brenner, H
- Muller, H
- Arndt, V
- Stegmaier, C
- Meindl, A
- Lichtner, P
- Schmutzler, R K
- Engel, C
- Brauch, H
- Hamann, U
- Justenhoven, C
- Aaltonen, K
- Heikkila, P
- Aittomaki, K
- Blomqvist, C
- Matsuo, K
- Ito, H
- Iwata, H
- Sueta, A
- Bogdanova, N V
- Antonenkova, N N
- Dork, T
- Lindblom, A
- Margolin, S
- Mannermaa, A
- Kataja, V
- Kosma, V M
- Hartikainen, J M
- Wu, A H
- Tseng, C C
- Van Den Berg, D
- Stram, D O
- Lambrechts, D
- Peeters, S
- Smeets, A
- Floris, G
- Chang-Claude, J
- Rudolph, A
- Nickels, S
- Flesch-Janys, D
- Radice, P
- Peterlongo, P
- Bonanni, B
- Sardella, D
- Couch, F J
- Wang, X
- Pankratz, V S
- Lee, A
- Giles, G G
- Severi, G
- Baglietto, L
- Haiman, C A
- Henderson, B E
- Schumacher, F
- Le Marchand, L
- Simard, J
- Goldberg, M S
- Labreche, F
- Dumont, M
- Teo, S H
- Yip, C H
- Ng, C H
- Vithana, E N
- Kristensen, V
- Zheng, W
- Deming-Halverson, S
- Shrubsole, M
- Long, J
- Winqvist, R
- Pylkas, K
- Jukkola-Vuorinen, A
- Grip, M
- Andrulis, I L
- Knight, J A
- Glendon, G
- Mulligan, A M
- Devilee, P
- Seynaeve, C
- Garcia-Closas, M
- Figueroa, J
- Chanock, S J
- Lissowska, J
- Czene, K
- Klevebring, D
- Schoof, N
- Hooning, M J
- Martens, J W
- Collee, J M
- Tilanus-Linthorst, M
- Hall, P
- Li, J
- Liu, J
- Humphreys, K
- Shu, X O
- Lu, W
- Gao, Y T
- Cai, H
- Cox, A
- Balasubramanian, S P
- Blot, W
- Signorello, L B
- Cai, Q
- Pharoah, P D
- Healey, C S
- Shah, M
- Pooley, K A
- Kang, D
- Yoo, K Y
- Noh, D Y
- Hartman, M
- Miao, H
- Sng, J H
- Sim, X
- Jakubowska, A
- Lubinski, J
- Jaworska-Bieniek, K
- Durda, K
- Sangrajrang, S
- Gaborieau, V
- McKay, J
- Toland, A E
- Ambrosone, C B
- Yannoukakos, D
- Godwin, A K
- Shen, C Y
- Hsiung, C N
- Wu, P E
- Chen, S T
- Swerdlow, A
- Ashworth, A
- Orr, N
- Schoemaker, M J
- Ponder, B A
- Nevanlinna, H
- Brown, M A
- Chenevix-Trench, G
- Easton, D F
- Dunning, A M
- 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 Carroll, 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 Alonso, M Rosario 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, Pornthep Fasching, Peter A Loehberg, Christian R Ekici, Arif B Beckmann, Matthias W Peto, Julian Dos Santos Silva, Isabel Johnson, Nichola Aitken, Zoe Sawyer, Elinor J Tomlinson, Ian Kerin, Michael J Miller, Nicola Marme, Frederik Schneeweiss, Andreas Sohn, Christof Burwinkel, Barbara Guenel, Pascal Truong, Therese Laurent-Puig, Pierre Menegaux, Florence Bojesen, Stig E Nordestgaard, Borge G Nielsen, Sune F Flyger, Henrik Milne, Roger L Zamora, M Pilar Arias Perez, Jose Ignacio Benitez, Javier Anton-Culver, Hoda Brenner, Hermann Muller, Heiko Arndt, Volker Stegmaier, Christa Meindl, Alfons Lichtner, Peter Schmutzler, Rita K Engel, Christoph Brauch, Hiltrud Hamann, Ute Justenhoven, Christina 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 kConFab Investigators 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 United States American journal of human genetics Am J Hum Genet. 2013 Apr 4;92(4):489-503. doi: 10.1016/j.ajhg.2013.01.002. Epub 2013 Mar 27.