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

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Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. / 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; González-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; Guénel, Pascal; Truong, Thérèse; Laurent-Puig, Pierre; Menegaux, Florence; Bojesen, Stig E; Nordestgaard, Børge G; Nielsen, Sune F; Flyger, Henrik; Milne, Roger L; Zamora, M Pilar; Arias Perez, Jose Ignacio; Benitez, Javier; Anton-Culver, Hoda; Brenner, Hermann; Müller, Heiko; Arndt, Volker; Stegmaier, Christa; Meindl, Alfons; Lichtner, Peter; Schmutzler, Rita K; Engel, Christoph; Brauch, Hiltrud; Hamann, Ute; Justenhoven, Christina; Aaltonen, Kirsimari; Heikkilä, Päivi; Aittomäki, Kristiina; Blomqvist, Carl; Matsuo, Keitaro; Ito, Hidemi; Iwata, Hiroji; Sueta, Aiko; Bogdanova, Natalia V; Antonenkova, Natalia N; Dörk, 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; Labrèche, 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; Pylkäs, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Andrulis, Irene L; Knight, Julia A; Glendon, Gord; Mulligan, Anna Marie; Devilee, Peter; Seynaeve, Caroline; García-Closas, Montserrat; Figueroa, Jonine; Chanock, Stephen J; Lissowska, Jolanta; Czene, Kamila; Klevebring, Daniel; Schoof, Nils; Hooning, Maartje J; Martens, John W M; Collée, 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; GENICA Network; KConFab Investigators.

In: AM J HUM GENET, Vol. 92, No. 4, 04.04.2013, p. 489-503.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Ghoussaini, M, Edwards, SL, Meyer, KB, Michailidou, K, Ahmed, S, Khan, S, Maranian, MJ, O'Reilly, M, Hillman, KM, Betts, JA, Carroll, T, Bailey, PJ, Dicks, E, Beesley, J, Tyrer, J, Maia, A-T, Beck, A, Knoblauch, NW, Chen, C, Kraft, P, Barnes, D, González-Neira, A, Alonso, MR, Herrero, D, Tessier, DC, Vincent, D, Bacot, F, Luccarini, C, Baynes, C, Conroy, D, Dennis, J, Bolla, MK, Wang, Q, Hopper, JL, Southey, MC, Schmidt, MK, Broeks, A, Verhoef, S, Cornelissen, S, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, PA, Loehberg, CR, Ekici, AB, Beckmann, MW, Peto, J, dos Santos Silva, I, Johnson, N, Aitken, Z, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guénel, P, Truong, T, Laurent-Puig, P, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Milne, RL, Zamora, MP, Arias Perez, JI, Benitez, J, Anton-Culver, H, Brenner, H, Müller, H, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, RK, Engel, C, Brauch, H, Hamann, U, Justenhoven, C, Aaltonen, K, Heikkilä, P, Aittomäki, K, Blomqvist, C, Matsuo, K, Ito, H, Iwata, H, Sueta, A, Bogdanova, NV, Antonenkova, NN, Dörk, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, JM, Wu, AH, Tseng, C, Van Den Berg, D, Stram, DO, 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, FJ, Wang, X, Pankratz, VS, Lee, A, Giles, GG, Severi, G, Baglietto, L, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, MS, Labrèche, F, Dumont, M, Teo, SH, Yip, CH, Ng, C-H, Vithana, EN, Kristensen, V, Zheng, W, Deming-Halverson, S, Shrubsole, M, Long, J, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Devilee, P, Seynaeve, C, García-Closas, M, Figueroa, J, Chanock, SJ, Lissowska, J, Czene, K, Klevebring, D, Schoof, N, Hooning, MJ, Martens, JWM, Collée, JM, Tilanus-Linthorst, M, Hall, P, Li, J, Liu, J, Humphreys, K, Shu, X-O, Lu, W, Gao, Y-T, Cai, H, Cox, A, Balasubramanian, SP, Blot, W, Signorello, LB, Cai, Q, Pharoah, PDP, Healey, CS, Shah, M, Pooley, KA, 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, AE, Ambrosone, CB, Yannoukakos, D, Godwin, AK, Shen, C-Y, Hsiung, C-N, Wu, P-E, Chen, S-T, Swerdlow, A, Ashworth, A, Orr, N, Schoemaker, MJ, Ponder, BAJ, Nevanlinna, H, Brown, MA, Chenevix-Trench, G, Easton, DF, Dunning, AM, GENICA Network & KConFab Investigators 2013, 'Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers', AM J HUM GENET, vol. 92, no. 4, pp. 489-503. https://doi.org/10.1016/j.ajhg.2013.01.002

APA

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., ... KConFab Investigators (2013). Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. AM J HUM GENET, 92(4), 489-503. https://doi.org/10.1016/j.ajhg.2013.01.002

Vancouver

Ghoussaini M, Edwards SL, Meyer KB, Michailidou K, Ahmed S, Khan S et al. Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers. AM J HUM GENET. 2013 Apr 4;92(4):489-503. https://doi.org/10.1016/j.ajhg.2013.01.002

Bibtex

@article{2f908684e2614d4d9fa7fccbf28a88ce,
title = "Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers",
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.",
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",
author = "French, {Juliet D} and Maya Ghoussaini and Edwards, {Stacey L} and Meyer, {Kerstin B} and Kyriaki Michailidou and Shahana Ahmed and Sofia Khan and Maranian, {Mel J} and Martin O'Reilly and Hillman, {Kristine M} and Betts, {Joshua A} and Thomas Carroll and Bailey, {Peter J} and Ed Dicks and Jonathan Beesley and Jonathan Tyrer and Ana-Teresa Maia and Andrew Beck and Knoblauch, {Nicholas W} and Constance Chen and Peter Kraft and Daniel Barnes and Anna Gonz{\'a}lez-Neira and Alonso, {M Rosario} and Daniel Herrero and Tessier, {Daniel C} and Daniel Vincent and Francois Bacot and Craig Luccarini and Caroline Baynes and Don Conroy and Joe Dennis and Bolla, {Manjeet K} and Qin Wang and Hopper, {John L} and Southey, {Melissa C} and Schmidt, {Marjanka K} and Annegien Broeks and Senno Verhoef and Sten Cornelissen and Kenneth Muir and Artitaya Lophatananon and Sarah Stewart-Brown and Pornthep Siriwanarangsan and Fasching, {Peter A} and Loehberg, {Christian R} and Ekici, {Arif B} and Beckmann, {Matthias W} and Julian Peto and {dos Santos Silva}, Isabel and Nichola Johnson and Zoe Aitken and Sawyer, {Elinor J} and Ian Tomlinson and Kerin, {Michael J} and Nicola Miller and Frederik Marme and Andreas Schneeweiss and Christof Sohn and Barbara Burwinkel and Pascal Gu{\'e}nel and Th{\'e}r{\`e}se Truong and Pierre Laurent-Puig and Florence Menegaux and Bojesen, {Stig E} and Nordestgaard, {B{\o}rge G} and Nielsen, {Sune F} and Henrik Flyger and Milne, {Roger L} and Zamora, {M Pilar} and {Arias Perez}, {Jose Ignacio} and Javier Benitez and Hoda Anton-Culver and Hermann Brenner and Heiko M{\"u}ller and Volker Arndt and Christa Stegmaier and Alfons Meindl and Peter Lichtner and Schmutzler, {Rita K} and Christoph Engel and Hiltrud Brauch and Ute Hamann and Christina Justenhoven and Kirsimari Aaltonen and P{\"a}ivi Heikkil{\"a} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Keitaro Matsuo and Hidemi Ito and Hiroji Iwata and Aiko Sueta and Bogdanova, {Natalia V} and Antonenkova, {Natalia N} and Thilo D{\"o}rk and Annika Lindblom and Sara Margolin and Arto Mannermaa and Vesa Kataja and Veli-Matti Kosma and Hartikainen, {Jaana M} and Wu, {Anna H} and Chiu-chen Tseng and {Van Den Berg}, David and Stram, {Daniel O} and Diether Lambrechts and Stephanie Peeters and Ann Smeets and Giuseppe Floris and Jenny Chang-Claude and Anja Rudolph and Stefan Nickels and Dieter Flesch-Janys and Paolo Radice and Paolo Peterlongo and Bernardo Bonanni and Domenico Sardella and Couch, {Fergus J} and Xianshu Wang and Pankratz, {Vernon S} and Adam Lee and Giles, {Graham G} and Gianluca Severi and Laura Baglietto and Haiman, {Christopher A} and Henderson, {Brian E} and Fredrick Schumacher and {Le Marchand}, Loic and Jacques Simard and Goldberg, {Mark S} and France Labr{\`e}che and Martine Dumont and Teo, {Soo Hwang} and Yip, {Cheng Har} and Char-Hong Ng and Vithana, {Eranga Nishanthie} and Vessela Kristensen and Wei Zheng and Sandra Deming-Halverson and Martha Shrubsole and Jirong Long and Robert Winqvist and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Mervi Grip and Andrulis, {Irene L} and Knight, {Julia A} and Gord Glendon and Mulligan, {Anna Marie} and Peter Devilee and Caroline Seynaeve and Montserrat Garc{\'i}a-Closas and Jonine Figueroa and Chanock, {Stephen J} and Jolanta Lissowska and Kamila Czene and Daniel Klevebring and Nils Schoof and Hooning, {Maartje J} and Martens, {John W M} and Coll{\'e}e, {J Margriet} and Madeleine Tilanus-Linthorst and Per Hall and Jingmei Li and Jianjun Liu and Keith Humphreys and Xiao-Ou Shu and Wei Lu and Yu-Tang Gao and Hui Cai and Angela Cox and Balasubramanian, {Sabapathy P} and William Blot and Signorello, {Lisa B} and Qiuyin Cai and Pharoah, {Paul D P} and Healey, {Catherine S} and Mitul Shah and Pooley, {Karen A} and Daehee Kang and Keun-Young Yoo and Dong-Young Noh and Mikael Hartman and Hui Miao and Jen-Hwei Sng and Xueling Sim and Anna Jakubowska and Jan Lubinski and Katarzyna Jaworska-Bieniek and Katarzyna Durda and Suleeporn Sangrajrang and Valerie Gaborieau and James McKay and Toland, {Amanda E} and Ambrosone, {Christine B} and Drakoulis Yannoukakos and Godwin, {Andrew K} and Chen-Yang Shen and Chia-Ni Hsiung and Pei-Ei Wu and Shou-Tung Chen and Anthony Swerdlow and Alan Ashworth and Nick Orr and Schoemaker, {Minouk J} and Ponder, {Bruce A J} and Heli Nevanlinna and Brown, {Melissa A} and Georgia Chenevix-Trench and Easton, {Douglas F} and Dunning, {Alison M} and {GENICA Network} and {KConFab Investigators}",
note = "Copyright {\textcopyright} 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2013",
month = apr,
day = "4",
doi = "10.1016/j.ajhg.2013.01.002",
language = "English",
volume = "92",
pages = "489--503",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

}

RIS

TY - JOUR

T1 - Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

AU - French, Juliet D

AU - Ghoussaini, Maya

AU - Edwards, Stacey L

AU - Meyer, Kerstin B

AU - Michailidou, Kyriaki

AU - Ahmed, Shahana

AU - Khan, Sofia

AU - Maranian, Mel J

AU - O'Reilly, Martin

AU - Hillman, Kristine M

AU - Betts, Joshua A

AU - Carroll, Thomas

AU - Bailey, Peter J

AU - Dicks, Ed

AU - Beesley, Jonathan

AU - Tyrer, Jonathan

AU - Maia, Ana-Teresa

AU - Beck, Andrew

AU - Knoblauch, Nicholas W

AU - Chen, Constance

AU - Kraft, Peter

AU - Barnes, Daniel

AU - González-Neira, Anna

AU - Alonso, M Rosario

AU - Herrero, Daniel

AU - Tessier, Daniel C

AU - Vincent, Daniel

AU - Bacot, Francois

AU - Luccarini, Craig

AU - Baynes, Caroline

AU - Conroy, Don

AU - Dennis, Joe

AU - Bolla, Manjeet K

AU - Wang, Qin

AU - Hopper, John L

AU - Southey, Melissa C

AU - Schmidt, Marjanka K

AU - Broeks, Annegien

AU - Verhoef, Senno

AU - Cornelissen, Sten

AU - Muir, Kenneth

AU - Lophatananon, Artitaya

AU - Stewart-Brown, Sarah

AU - Siriwanarangsan, Pornthep

AU - Fasching, Peter A

AU - Loehberg, Christian R

AU - Ekici, Arif B

AU - Beckmann, Matthias W

AU - Peto, Julian

AU - dos Santos Silva, Isabel

AU - Johnson, Nichola

AU - Aitken, Zoe

AU - Sawyer, Elinor J

AU - Tomlinson, Ian

AU - Kerin, Michael J

AU - Miller, Nicola

AU - Marme, Frederik

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Burwinkel, Barbara

AU - Guénel, Pascal

AU - Truong, Thérèse

AU - Laurent-Puig, Pierre

AU - Menegaux, Florence

AU - Bojesen, Stig E

AU - Nordestgaard, Børge G

AU - Nielsen, Sune F

AU - Flyger, Henrik

AU - Milne, Roger L

AU - Zamora, M Pilar

AU - Arias Perez, Jose Ignacio

AU - Benitez, Javier

AU - Anton-Culver, Hoda

AU - Brenner, Hermann

AU - Müller, Heiko

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Meindl, Alfons

AU - Lichtner, Peter

AU - Schmutzler, Rita K

AU - Engel, Christoph

AU - Brauch, Hiltrud

AU - Hamann, Ute

AU - Justenhoven, Christina

AU - Aaltonen, Kirsimari

AU - Heikkilä, Päivi

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Matsuo, Keitaro

AU - Ito, Hidemi

AU - Iwata, Hiroji

AU - Sueta, Aiko

AU - Bogdanova, Natalia V

AU - Antonenkova, Natalia N

AU - Dörk, Thilo

AU - Lindblom, Annika

AU - Margolin, Sara

AU - Mannermaa, Arto

AU - Kataja, Vesa

AU - Kosma, Veli-Matti

AU - Hartikainen, Jaana M

AU - Wu, Anna H

AU - Tseng, Chiu-chen

AU - Van Den Berg, David

AU - Stram, Daniel O

AU - Lambrechts, Diether

AU - Peeters, Stephanie

AU - Smeets, Ann

AU - Floris, Giuseppe

AU - Chang-Claude, Jenny

AU - Rudolph, Anja

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Radice, Paolo

AU - Peterlongo, Paolo

AU - Bonanni, Bernardo

AU - Sardella, Domenico

AU - Couch, Fergus J

AU - Wang, Xianshu

AU - Pankratz, Vernon S

AU - Lee, Adam

AU - Giles, Graham G

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - Haiman, Christopher A

AU - Henderson, Brian E

AU - Schumacher, Fredrick

AU - Le Marchand, Loic

AU - Simard, Jacques

AU - Goldberg, Mark S

AU - Labrèche, France

AU - Dumont, Martine

AU - Teo, Soo Hwang

AU - Yip, Cheng Har

AU - Ng, Char-Hong

AU - Vithana, Eranga Nishanthie

AU - Kristensen, Vessela

AU - Zheng, Wei

AU - Deming-Halverson, Sandra

AU - Shrubsole, Martha

AU - Long, Jirong

AU - Winqvist, Robert

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Grip, Mervi

AU - Andrulis, Irene L

AU - Knight, Julia A

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Devilee, Peter

AU - Seynaeve, Caroline

AU - García-Closas, Montserrat

AU - Figueroa, Jonine

AU - Chanock, Stephen J

AU - Lissowska, Jolanta

AU - Czene, Kamila

AU - Klevebring, Daniel

AU - Schoof, Nils

AU - Hooning, Maartje J

AU - Martens, John W M

AU - Collée, J Margriet

AU - Tilanus-Linthorst, Madeleine

AU - Hall, Per

AU - Li, Jingmei

AU - Liu, Jianjun

AU - Humphreys, Keith

AU - Shu, Xiao-Ou

AU - Lu, Wei

AU - Gao, Yu-Tang

AU - Cai, Hui

AU - Cox, Angela

AU - Balasubramanian, Sabapathy P

AU - Blot, William

AU - Signorello, Lisa B

AU - Cai, Qiuyin

AU - Pharoah, Paul D P

AU - Healey, Catherine S

AU - Shah, Mitul

AU - Pooley, Karen A

AU - Kang, Daehee

AU - Yoo, Keun-Young

AU - Noh, Dong-Young

AU - Hartman, Mikael

AU - Miao, Hui

AU - Sng, Jen-Hwei

AU - Sim, Xueling

AU - Jakubowska, Anna

AU - Lubinski, Jan

AU - Jaworska-Bieniek, Katarzyna

AU - Durda, Katarzyna

AU - Sangrajrang, Suleeporn

AU - Gaborieau, Valerie

AU - McKay, James

AU - Toland, Amanda E

AU - Ambrosone, Christine B

AU - Yannoukakos, Drakoulis

AU - Godwin, Andrew K

AU - Shen, Chen-Yang

AU - Hsiung, Chia-Ni

AU - Wu, Pei-Ei

AU - Chen, Shou-Tung

AU - Swerdlow, Anthony

AU - Ashworth, Alan

AU - Orr, Nick

AU - Schoemaker, Minouk J

AU - Ponder, Bruce A J

AU - Nevanlinna, Heli

AU - Brown, Melissa A

AU - Chenevix-Trench, Georgia

AU - Easton, Douglas F

AU - Dunning, Alison M

AU - GENICA Network

AU - KConFab Investigators

N1 - Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2013/4/4

Y1 - 2013/4/4

N2 - 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.

AB - 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.

KW - Binding Sites

KW - Breast Neoplasms

KW - Case-Control Studies

KW - Cell Line, Tumor

KW - Chromatin

KW - Chromatin Immunoprecipitation

KW - Chromosomes, Human, Pair 11

KW - Cyclin D1

KW - Electrophoretic Mobility Shift Assay

KW - Enhancer Elements, Genetic

KW - Female

KW - GATA3 Transcription Factor

KW - Gene Expression Regulation, Neoplastic

KW - Humans

KW - Luciferases

KW - Polymorphism, Single Nucleotide

KW - Promoter Regions, Genetic

KW - RNA, Messenger

KW - RNA, Small Interfering

KW - Real-Time Polymerase Chain Reaction

KW - Reverse Transcriptase Polymerase Chain Reaction

KW - Silencer Elements, Transcriptional

KW - ets-Domain Protein Elk-4

U2 - 10.1016/j.ajhg.2013.01.002

DO - 10.1016/j.ajhg.2013.01.002

M3 - SCORING: Journal article

C2 - 23540573

VL - 92

SP - 489

EP - 503

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 4

ER -