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., Beck, A., Knoblauch, N. W., Chen, C., Kraft, P., Barnes, D., González-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., Guénel, 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., Müller, H., Arndt, V., Stegmaier, C., Meindl, A., Lichtner, P., Schmutzler, R. K., Engel, C., Brauch, H., Hamann, U., Justenhoven, C., GENICA Network, Aaltonen, K., Heikkilä, P., Aittomäki, K., Blomqvist, C., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Bogdanova, N. V., Antonenkova, N. N., Dörk, T., Lindblom, A., Margolin, S., Mannermaa, A., Kataja, V., Kosma, V., Hartikainen, J. M., kConFab Investigators, Wu, A. H., Tseng, 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., Labrèche, F., Dumont, M., Teo, S. H., Yip, C. H., Ng, C., Vithana, E. N., Kristensen, V., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Devilee, P., Seynaeve, C., García-Closas, M., Figueroa, J., Chanock, S. J., Lissowska, J., Czene, K., Klevebring, D., Schoof, N., Hooning, M. J., Martens, J. W. M., Collée, J. M., Tilanus-Linthorst, M., Hall, P., Li, J., Liu, J., Humphreys, K., Shu, X., Lu, W., Gao, Y., Cai, H., Cox, A., Balasubramanian, S. P., Blot, W., Signorello, L. B., Cai, Q., Pharoah, P. D. P., Healey, C. S., Shah, M., Pooley, K. A., Kang, D., Yoo, K., Noh, D., Hartman, M., Miao, H., Sng, J., 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., Hsiung, C., Wu, P., Chen, S., Swerdlow, A., Ashworth, A., Orr, N., Schoemaker, M. J., Ponder, B. A. J., Nevanlinna, H., Brown, M. A., Chenevix-Trench, G., Easton, D. F., & Dunning, A. M. American Journal of Human Genetics, 92(4):489–503, April, 2013.
doi  abstract   bibtex   
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.
@article{french_functional_2013,
	title = {Functional variants at the 11q13 risk locus for breast cancer regulate cyclin {D1} expression through long-range enhancers},
	volume = {92},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2013.01.002},
	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.},
	language = {eng},
	number = {4},
	journal = {American Journal of Human Genetics},
	author = {French, Juliet D. and Ghoussaini, Maya and Edwards, Stacey L. and Meyer, Kerstin B. and Michailidou, Kyriaki and Ahmed, Shahana and Khan, Sofia and Maranian, Mel J. and O'Reilly, Martin and Hillman, Kristine M. and Betts, Joshua A. and Carroll, Thomas and Bailey, Peter J. and Dicks, Ed and Beesley, Jonathan and Tyrer, Jonathan and Maia, Ana-Teresa and Beck, Andrew and Knoblauch, Nicholas W. and Chen, Constance and Kraft, Peter and Barnes, Daniel and González-Neira, Anna and Alonso, M. Rosario and Herrero, Daniel and Tessier, Daniel C. and Vincent, Daniel and Bacot, Francois and Luccarini, Craig and Baynes, Caroline and Conroy, Don and Dennis, Joe and Bolla, Manjeet K. and Wang, Qin and Hopper, John L. and Southey, Melissa C. and Schmidt, Marjanka K. and Broeks, Annegien and Verhoef, Senno and Cornelissen, Sten and Muir, Kenneth and Lophatananon, Artitaya and Stewart-Brown, Sarah and Siriwanarangsan, Pornthep and Fasching, Peter A. and Loehberg, Christian R. and Ekici, Arif B. and Beckmann, Matthias W. and Peto, Julian and dos Santos Silva, Isabel and Johnson, Nichola and Aitken, Zoe and Sawyer, Elinor J. and Tomlinson, Ian and Kerin, Michael J. and Miller, Nicola and Marme, Frederik and Schneeweiss, Andreas and Sohn, Christof and Burwinkel, Barbara and Guénel, Pascal and Truong, Thérèse and Laurent-Puig, Pierre and Menegaux, Florence and Bojesen, Stig E. and Nordestgaard, Børge G. and Nielsen, Sune F. and Flyger, Henrik and Milne, Roger L. and Zamora, M. Pilar and Arias Perez, Jose Ignacio and Benitez, Javier and Anton-Culver, Hoda and Brenner, Hermann and Müller, Heiko and Arndt, Volker and Stegmaier, Christa and Meindl, Alfons and Lichtner, Peter and Schmutzler, Rita K. and Engel, Christoph and Brauch, Hiltrud and Hamann, Ute and Justenhoven, Christina and {GENICA Network} and Aaltonen, Kirsimari and Heikkilä, Päivi and Aittomäki, Kristiina and Blomqvist, Carl and Matsuo, Keitaro and Ito, Hidemi and Iwata, Hiroji and Sueta, Aiko and Bogdanova, Natalia V. and Antonenkova, Natalia N. and Dörk, Thilo and Lindblom, Annika and Margolin, Sara and Mannermaa, Arto and Kataja, Vesa and Kosma, Veli-Matti and Hartikainen, Jaana M. and {kConFab Investigators} and Wu, Anna H. and Tseng, Chiu-chen and Van Den Berg, David and Stram, Daniel O. and Lambrechts, Diether and Peeters, Stephanie and Smeets, Ann and Floris, Giuseppe and Chang-Claude, Jenny and Rudolph, Anja and Nickels, Stefan and Flesch-Janys, Dieter and Radice, Paolo and Peterlongo, Paolo and Bonanni, Bernardo and Sardella, Domenico and Couch, Fergus J. and Wang, Xianshu and Pankratz, Vernon S. and Lee, Adam and Giles, Graham G. and Severi, Gianluca and Baglietto, Laura and Haiman, Christopher A. and Henderson, Brian E. and Schumacher, Fredrick and Le Marchand, Loic and Simard, Jacques and Goldberg, Mark S. and Labrèche, France and Dumont, Martine and Teo, Soo Hwang and Yip, Cheng Har and Ng, Char-Hong and Vithana, Eranga Nishanthie and Kristensen, Vessela and Zheng, Wei and Deming-Halverson, Sandra and Shrubsole, Martha and Long, Jirong and Winqvist, Robert and Pylkäs, Katri and Jukkola-Vuorinen, Arja and Grip, Mervi and Andrulis, Irene L. and Knight, Julia A. and Glendon, Gord and Mulligan, Anna Marie and Devilee, Peter and Seynaeve, Caroline and García-Closas, Montserrat and Figueroa, Jonine and Chanock, Stephen J. and Lissowska, Jolanta and Czene, Kamila and Klevebring, Daniel and Schoof, Nils and Hooning, Maartje J. and Martens, John W. M. and Collée, J. Margriet and Tilanus-Linthorst, Madeleine and Hall, Per and Li, Jingmei and Liu, Jianjun and Humphreys, Keith and Shu, Xiao-Ou and Lu, Wei and Gao, Yu-Tang and Cai, Hui and Cox, Angela and Balasubramanian, Sabapathy P. and Blot, William and Signorello, Lisa B. and Cai, Qiuyin and Pharoah, Paul D. P. and Healey, Catherine S. and Shah, Mitul and Pooley, Karen A. and Kang, Daehee and Yoo, Keun-Young and Noh, Dong-Young and Hartman, Mikael and Miao, Hui and Sng, Jen-Hwei and Sim, Xueling and Jakubowska, Anna and Lubinski, Jan and Jaworska-Bieniek, Katarzyna and Durda, Katarzyna and Sangrajrang, Suleeporn and Gaborieau, Valerie and McKay, James and Toland, Amanda E. and Ambrosone, Christine B. and Yannoukakos, Drakoulis and Godwin, Andrew K. and Shen, Chen-Yang and Hsiung, Chia-Ni and Wu, Pei-Ei and Chen, Shou-Tung and Swerdlow, Anthony and Ashworth, Alan and Orr, Nick and Schoemaker, Minouk J. and Ponder, Bruce A. J. and Nevanlinna, Heli and Brown, Melissa A. and Chenevix-Trench, Georgia and Easton, Douglas F. and Dunning, Alison M.},
	month = apr,
	year = {2013},
	pmid = {23540573},
	pmcid = {PMC3617380},
	keywords = {Binding Sites, Breast Neoplasms, Case-Control Studies, Cell Line, Tumor, Chromatin, Chromatin Immunoprecipitation, Chromosomes, Human, Pair 11, Cyclin D1, Electrophoretic Mobility Shift Assay, Enhancer Elements, Genetic, Female, GATA3 Transcription Factor, Gene Expression Regulation, Neoplastic, Humans, Luciferases, Polymorphism, Single Nucleotide, Promoter Regions, Genetic, RNA, Messenger, RNA, Small Interfering, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction, Silencer Elements, Transcriptional, ets-Domain Protein Elk-4},
	pages = {489--503},
}
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