Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Montserrat Garcia-Closas; Fergus J. Couch; Sara Lindstrom; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn Kyong Rhie; Elio Riboli; Heather S. Feigelson; Loic Le Marchand; Julie E. Buring; Diana Eccles; Penelope Miron; Peter A. Fasching; Hiltrud Brauch; Jenny Chang-Claude; Jane Carpenter; Andrew K. Godwin; Heli Nevanlinna; Graham G. Giles; Angela Cox; John L. Hopper; Manjeet K. Bolla; Qin Wang; Joe Dennis; Ed Dicks; Will J. Howat; Nils Schoof; Stig E. Bojesen; Diether Lambrechts; Annegien Broeks; Irene L. Andrulis; Pascal Guénel; Barbara Burwinkel; Elinor J. Sawyer; Antoinette Hollestelle; Olivia Fletcher; Robert Winqvist; Hermann Brenner; Arto Mannermaa; Ute Hamann; Alfons Meindl; Annika Lindblom; Wei Zheng; Peter Devillee; Mark S. Goldberg; Jan Lubinski; Vessela Kristensen; Anthony Swerdlow; Hoda Anton-Culver; Thilo Dörk; Kenneth Muir; Keitaro Matsuo; Anna H. Wu; Paolo Radice; Soo Hwang Teo; Xiao Ou Shu; William Blot; Daehee Kang; Mikael Hartman; Suleeporn Sangrajrang; Chen Yang Shen; Melissa C. Southey; Daniel J. Park; Fleur Hammet; Jennifer Stone; Laura J.Van T. Veer; Emiel J. Rutgers; Artitaya Lophatananon; Sarah Stewart-Brown; Pornthep Siriwanarangsan; Julian Peto; Michael G. Schrauder; Arif B. Ekici; Matthias W. Beckmann; Isabel Dos Santos Silva; Nichola Johnson; Helen Warren; Ian Tomlinson; Michael J. Kerin; Nicola Miller; Federick Marme; Andreas Schneeweiss; Christof Sohn; Therese Truong; Pierre Laurent-Puig; Pierre Kerbrat; Børge G. Nordestgaard; Sune F. Nielsen; Henrik Flyger; Roger L. Milne; Jose Ignacio Arias Perez; Primitiva Menéndez; Heiko Müller; Volker Arndt; Christa Stegmaier; Peter Lichtner; Magdalena Lochmann; Christina Justenhoven; Yon Dschun Ko; Taru A. Muranen; Kristiina Aittomäki; Carl Blomqvist; Dario Greco; Tuomas Heikkinen; Hidemi Ito; Hiroji Iwata; Yasushi Yatabe; Natalia N. Antonenkova; Sara Margolin; Vesa Kataja; Veli Matti Kosma; Jaana M. Hartikainen; Rosemary Balleine; Chiu Chen Tseng; David Van Den Berg; Daniel O. Stram; Patrick Neven; Anne Sophie Dieudonné; Karin Leunen; Anja Rudolph; Stefan Nickels; Dieter Flesch-Janys; Paolo Peterlongo; Bernard Peissel; Loris Bernard; Janet E. Olson; Xianshu Wang; Kristen Stevens; Gianluca Severi; Laura Baglietto; Catriona McLean; Gerhard A. Coetzee; Ye Feng; Brian E. Henderson; Fredrick Schumacher; Natalia V. Bogdanova; France Labrèche; Martine Dumont; Cheng Har Yip; Nur Aishah Mohd Taib; Ching Yu Cheng; Martha Shrubsole; Jirong Long; Katri Pylkäs; Arja Jukkola-Vuorinen; Saila Kauppila; Julia A. Knight; Gord Glendon; Anna Marie Mulligan; Robertus A.E.M. Tollenaar; Caroline M. Seynaeve; Mieke Kriege; Maartje J. Hooning; Ans M.W. Van Den Ouweland; Carolien H.M. Van Deurzen; Wei Lu; Yu Tang Gao; Hui Cai; Sabapathy P. Balasubramanian; Simon S. Cross; Malcolm W.R. Reed; Lisa Signorello; Qiuyin Cai; Mitul Shah; Hui Miao; Ching Wan Chan; Kee Seng Chia; Anna Jakubowska; Katarzyna Jaworska; Katarzyna Durda; Chia Ni Hsiung; Pei Ei Wu; Jyh Cherng Yu; Alan Ashworth; Michael Jones; Daniel C. Tessier; Anna González-Neira; Guillermo Pita; M. Rosario Alonso; Daniel Vincent; Francois Bacot; Christine B. Ambrosone; Elisa V. Bandera; Esther M. John; Gary K. Chen; Jennifer J. Hu; Jorge L. Rodriguez-Gil; Leslie Bernstein; Michael F. Press; Regina G. Ziegler; Robert M. Millikan; Sandra L. Deming-Halverson; Sarah Nyante; Sue A. Ingles; Quinten Waisfisz; Helen Tsimiklis; Enes Makalic; Daniel Schmidt; Minh Bui; Lorna Gibson; Bertram Müller-Myhsok; Rita K. Schmutzler; Rebecca Hein; Norbert Dahmen; Lars Beckmann; Kirsimari Aaltonen; Kamila Czene; Astrid Irwanto; Jianjun Liu; Clare Turnbull; Nazneen Rahman; Hanne Meijers-Heijboer; Andre G. Uitterlinden; Fernando Rivadeneira; Curtis Olswold; Susan Slager; Robert Pilarski; Foluso Ademuyiwa; Irene Konstantopoulou; Nicholas G. Martin; Grant W. Montgomery; Dennis J. Slamon; Claudia Rauh; Michael P. Lux; Sebastian M. Jud; Thomas Bruning; Joellen Weaver; Priyanka Sharma; Harsh Pathak; Will Tapper; Sue Gerty; Lorraine Durcan; Dimitrios Trichopoulos; Rosario Tumino; Petra H. Peeters; Rudolf Kaaks; Daniele Campa; Federico Canzian; Elisabete Weiderpass; Mattias Johansson; Kay Tee Khaw; Ruth Travis; Françoise Clavel-Chapelon; Laurence N. Kolonel; Constance Chen; Andy Beck; Susan E. Hankinson; Christine D. Berg; Robert N. Hoover; Jolanta Lissowska; Jonine D. Figueroa; Daniel I. Chasman; Mia M. Gaudet; W. Ryan Diver; Walter C. Willett; David J. Hunter; Jacques Simard; Javier Benitez; Alison M. Dunning; Mark E. Sherman; Georgia Chenevix-Trench; Stephen J. Chanock; Per Hall; Paul D.P. Pharoah; Celine Vachon; Douglas F. Easton; Christopher A. Haiman; Peter Kraft

doi:10.1038/ng.2561

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

Montserrat Garcia-Closas, Fergus J. Couch, Sara Lindstrom, Kyriaki Michailidou, Marjanka K. Schmidt, Mark N. Brook, Nick Orr, Suhn Kyong Rhie, Elio Riboli, Heather S. Feigelson, Loic Le Marchand, Julie E. Buring, Diana Eccles, Penelope Miron, Peter A. Fasching, Hiltrud Brauch, Jenny Chang-Claude, Jane Carpenter, Andrew K. Godwin, Heli NevanlinnaGraham G. Giles, Angela Cox, John L. Hopper, Manjeet K. Bolla, Qin Wang, Joe Dennis, Ed Dicks, Will J. Howat, Nils Schoof, Stig E. Bojesen, Diether Lambrechts, Annegien Broeks, Irene L. Andrulis, Pascal Guénel, Barbara Burwinkel, Elinor J. Sawyer, Antoinette Hollestelle, Olivia Fletcher, Robert Winqvist, Hermann Brenner, Arto Mannermaa, Ute Hamann, Alfons Meindl, Annika Lindblom, Wei Zheng, Peter Devillee, Mark S. Goldberg, Jan Lubinski, Vessela Kristensen, Anthony Swerdlow, Hoda Anton-Culver, Thilo Dörk, Kenneth Muir, Keitaro Matsuo, Anna H. Wu, Paolo Radice, Soo Hwang Teo, Xiao Ou Shu, William Blot, Daehee Kang, Mikael Hartman, Suleeporn Sangrajrang, Chen Yang Shen, Melissa C. Southey, Daniel J. Park, Fleur Hammet, Jennifer Stone, Laura J.Van T. Veer, Emiel J. Rutgers, Artitaya Lophatananon, Sarah Stewart-Brown, Pornthep Siriwanarangsan, Julian Peto, Michael G. Schrauder, Arif B. Ekici, Matthias W. Beckmann, Isabel Dos Santos Silva, Nichola Johnson, Helen Warren, Ian Tomlinson, Michael J. Kerin, Nicola Miller, Federick Marme, Andreas Schneeweiss, Christof Sohn, Therese Truong, Pierre Laurent-Puig, Pierre Kerbrat, Børge G. Nordestgaard, Sune F. Nielsen, Henrik Flyger, Roger L. Milne, Jose Ignacio Arias Perez, Primitiva Menéndez, Heiko Müller, Volker Arndt, Christa Stegmaier, Peter Lichtner, Magdalena Lochmann, Christina Justenhoven, Yon Dschun Ko, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Dario Greco, Tuomas Heikkinen, Hidemi Ito, Hiroji Iwata, Yasushi Yatabe, Natalia N. Antonenkova, Sara Margolin, Vesa Kataja, Veli Matti Kosma, Jaana M. Hartikainen, Rosemary Balleine, Chiu Chen Tseng, David Van Den Berg, Daniel O. Stram, Patrick Neven, Anne Sophie Dieudonné, Karin Leunen, Anja Rudolph, Stefan Nickels, Dieter Flesch-Janys, Paolo Peterlongo, Bernard Peissel, Loris Bernard, Janet E. Olson, Xianshu Wang, Kristen Stevens, Gianluca Severi, Laura Baglietto, Catriona McLean, Gerhard A. Coetzee, Ye Feng, Brian E. Henderson, Fredrick Schumacher, Natalia V. Bogdanova, France Labrèche, Martine Dumont, Cheng Har Yip, Nur Aishah Mohd Taib, Ching Yu Cheng, Martha Shrubsole, Jirong Long, Katri Pylkäs, Arja Jukkola-Vuorinen, Saila Kauppila, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Robertus A.E.M. Tollenaar, Caroline M. Seynaeve, Mieke Kriege, Maartje J. Hooning, Ans M.W. Van Den Ouweland, Carolien H.M. Van Deurzen, Wei Lu, Yu Tang Gao, Hui Cai, Sabapathy P. Balasubramanian, Simon S. Cross, Malcolm W.R. Reed, Lisa Signorello, Qiuyin Cai, Mitul Shah, Hui Miao, Ching Wan Chan, Kee Seng Chia, Anna Jakubowska, Katarzyna Jaworska, Katarzyna Durda, Chia Ni Hsiung, Pei Ei Wu, Jyh Cherng Yu, Alan Ashworth, Michael Jones, Daniel C. Tessier, Anna González-Neira, Guillermo Pita, M. Rosario Alonso, Daniel Vincent, Francois Bacot, Christine B. Ambrosone, Elisa V. Bandera, Esther M. John, Gary K. Chen, Jennifer J. Hu, Jorge L. Rodriguez-Gil, Leslie Bernstein, Michael F. Press, Regina G. Ziegler, Robert M. Millikan, Sandra L. Deming-Halverson, Sarah Nyante, Sue A. Ingles, Quinten Waisfisz, Helen Tsimiklis, Enes Makalic, Daniel Schmidt, Minh Bui, Lorna Gibson, Bertram Müller-Myhsok, Rita K. Schmutzler, Rebecca Hein, Norbert Dahmen, Lars Beckmann, Kirsimari Aaltonen, Kamila Czene, Astrid Irwanto, Jianjun Liu, Clare Turnbull, Nazneen Rahman, Hanne Meijers-Heijboer, Andre G. Uitterlinden, Fernando Rivadeneira, Curtis Olswold, Susan Slager, Robert Pilarski, Foluso Ademuyiwa, Irene Konstantopoulou, Nicholas G. Martin, Grant W. Montgomery, Dennis J. Slamon, Claudia Rauh, Michael P. Lux, Sebastian M. Jud, Thomas Bruning, Joellen Weaver, Priyanka Sharma, Harsh Pathak, Will Tapper, Sue Gerty, Lorraine Durcan, Dimitrios Trichopoulos, Rosario Tumino, Petra H. Peeters, Rudolf Kaaks, Daniele Campa, Federico Canzian, Elisabete Weiderpass, Mattias Johansson, Kay Tee Khaw, Ruth Travis, Françoise Clavel-Chapelon, Laurence N. Kolonel, Constance Chen, Andy Beck, Susan E. Hankinson, Christine D. Berg, Robert N. Hoover, Jolanta Lissowska, Jonine D. Figueroa, Daniel I. Chasman, Mia M. Gaudet, W. Ryan Diver, Walter C. Willett, David J. Hunter, Jacques Simard, Javier Benitez, Alison M. Dunning, Mark E. Sherman, Georgia Chenevix-Trench, Stephen J. Chanock, Per Hall, Paul D.P. Pharoah, Celine Vachon, Douglas F. Easton, Christopher A. Haiman, Peter Kraft

Research output: Contribution to journal › Article › peer-review

288 Scopus citations

Abstract

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10^-12 and LGR6, P = 1.4 × 10^-8), 2p24.1 (P = 4.6 × 10^-8) and 16q12.2 (FTO, P = 4.0 × 10^-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

Original language	English (US)
Pages (from-to)	392-398
Number of pages	7
Journal	Nature genetics
Volume	45
Issue number	4
DOIs	https://doi.org/10.1038/ng.2561
State	Published - Apr 2013
Externally published	Yes

ASJC Scopus subject areas

Genetics

Access to Document

10.1038/ng.2561

Cite this

Garcia-Closas, M., Couch, F. J., Lindstrom, S., Michailidou, K., Schmidt, M. K., Brook, M. N., Orr, N., Rhie, S. K., Riboli, E., Feigelson, H. S., Le Marchand, L., Buring, J. E., Eccles, D., Miron, P., Fasching, P. A., Brauch, H., Chang-Claude, J., Carpenter, J., Godwin, A. K., ... Kraft, P. (2013). Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nature genetics, 45(4), 392-398. https://doi.org/10.1038/ng.2561

Garcia-Closas, M, Couch, FJ, Lindstrom, S, Michailidou, K, Schmidt, MK, Brook, MN, Orr, N, Rhie, SK, Riboli, E, Feigelson, HS, Le Marchand, L, Buring, JE, Eccles, D, Miron, P, Fasching, PA, Brauch, H, Chang-Claude, J, Carpenter, J, Godwin, AK, Nevanlinna, H, Giles, GG, Cox, A, Hopper, JL, Bolla, MK, Wang, Q, Dennis, J, Dicks, E, Howat, WJ, Schoof, N, Bojesen, SE, Lambrechts, D, Broeks, A, Andrulis, IL, Guénel, P, Burwinkel, B, Sawyer, EJ, Hollestelle, A, Fletcher, O, Winqvist, R, Brenner, H, Mannermaa, A, Hamann, U, Meindl, A, Lindblom, A, Zheng, W, Devillee, P, Goldberg, MS, Lubinski, J, Kristensen, V, Swerdlow, A, Anton-Culver, H, Dörk, T, Muir, K, Matsuo, K, Wu, AH, Radice, P, Teo, SH, Shu, XO, Blot, W, Kang, D, Hartman, M, Sangrajrang, S, Shen, CY, Southey, MC, Park, DJ, Hammet, F, Stone, J, Veer, LJVT, Rutgers, EJ, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Peto, J, Schrauder, MG, Ekici, AB, Beckmann, MW, Dos Santos Silva, I, Johnson, N, Warren, H, Tomlinson, I, Kerin, MJ, Miller, N, Marme, F, Schneeweiss, A, Sohn, C, Truong, T, Laurent-Puig, P, Kerbrat, P, Nordestgaard, BG, Nielsen, SF, Flyger, H, Milne, RL, Perez, JIA, Menéndez, P, Müller, H, Arndt, V, Stegmaier, C, Lichtner, P, Lochmann, M, Justenhoven, C, Ko, YD, Muranen, TA, Aittomäki, K, Blomqvist, C, Greco, D, Heikkinen, T, Ito, H, Iwata, H, Yatabe, Y, Antonenkova, NN, Margolin, S, Kataja, V, Kosma, VM, Hartikainen, JM, Balleine, R, Tseng, CC, Berg, DVD, Stram, DO, Neven, P, Dieudonné, AS, Leunen, K, Rudolph, A, Nickels, S, Flesch-Janys, D, Peterlongo, P, Peissel, B, Bernard, L, Olson, JE, Wang, X, Stevens, K, Severi, G, Baglietto, L, McLean, C, Coetzee, GA, Feng, Y, Henderson, BE, Schumacher, F, Bogdanova, NV, Labrèche, F, Dumont, M, Yip, CH, Taib, NAM, Cheng, CY, Shrubsole, M, Long, J, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Knight, JA, Glendon, G, Mulligan, AM, Tollenaar, RAEM, Seynaeve, CM, Kriege, M, Hooning, MJ, Van Den Ouweland, AMW, Van Deurzen, CHM, Lu, W, Gao, YT, Cai, H, Balasubramanian, SP, Cross, SS, Reed, MWR, Signorello, L, Cai, Q, Shah, M, Miao, H, Chan, CW, Chia, KS, Jakubowska, A, Jaworska, K, Durda, K, Hsiung, CN, Wu, PE, Yu, JC, Ashworth, A, Jones, M, Tessier, DC, González-Neira, A, Pita, G, Alonso, MR, Vincent, D, Bacot, F, Ambrosone, CB, Bandera, EV, John, EM, Chen, GK, Hu, JJ, Rodriguez-Gil, JL, Bernstein, L, Press, MF, Ziegler, RG, Millikan, RM, Deming-Halverson, SL, Nyante, S, Ingles, SA, Waisfisz, Q, Tsimiklis, H, Makalic, E, Schmidt, D, Bui, M, Gibson, L, Müller-Myhsok, B, Schmutzler, RK, Hein, R, Dahmen, N, Beckmann, L, Aaltonen, K, Czene, K, Irwanto, A, Liu, J, Turnbull, C, Rahman, N, Meijers-Heijboer, H, Uitterlinden, AG, Rivadeneira, F, Olswold, C, Slager, S, Pilarski, R, Ademuyiwa, F, Konstantopoulou, I, Martin, NG, Montgomery, GW, Slamon, DJ, Rauh, C, Lux, MP, Jud, SM, Bruning, T, Weaver, J, Sharma, P, Pathak, H, Tapper, W, Gerty, S, Durcan, L, Trichopoulos, D, Tumino, R, Peeters, PH, Kaaks, R, Campa, D, Canzian, F, Weiderpass, E, Johansson, M, Khaw, KT, Travis, R, Clavel-Chapelon, F, Kolonel, LN, Chen, C, Beck, A, Hankinson, SE, Berg, CD, Hoover, RN, Lissowska, J, Figueroa, JD, Chasman, DI, Gaudet, MM, Diver, WR, Willett, WC, Hunter, DJ, Simard, J, Benitez, J, Dunning, AM, Sherman, ME, Chenevix-Trench, G, Chanock, SJ, Hall, P, Pharoah, PDP, Vachon, C, Easton, DF, Haiman, CA & Kraft, P 2013, 'Genome-wide association studies identify four ER negative-specific breast cancer risk loci', Nature genetics, vol. 45, no. 4, pp. 392-398. https://doi.org/10.1038/ng.2561

@article{b8ac10e384f04d1283cb8e1e0209011d,

title = "Genome-wide association studies identify four ER negative-specific breast cancer risk loci",

abstract = "Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10-12 and LGR6, P = 1.4 × 10-8), 2p24.1 (P = 4.6 × 10-8) and 16q12.2 (FTO, P = 4.0 × 10-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.",

author = "Montserrat Garcia-Closas and Couch, {Fergus J.} and Sara Lindstrom and Kyriaki Michailidou and Schmidt, {Marjanka K.} and Brook, {Mark N.} and Nick Orr and Rhie, {Suhn Kyong} and Elio Riboli and Feigelson, {Heather S.} and {Le Marchand}, Loic and Buring, {Julie E.} and Diana Eccles and Penelope Miron and Fasching, {Peter A.} and Hiltrud Brauch and Jenny Chang-Claude and Jane Carpenter and Godwin, {Andrew K.} and Heli Nevanlinna and Giles, {Graham G.} and Angela Cox and Hopper, {John L.} and Bolla, {Manjeet K.} and Qin Wang and Joe Dennis and Ed Dicks and Howat, {Will J.} and Nils Schoof and Bojesen, {Stig E.} and Diether Lambrechts and Annegien Broeks and Andrulis, {Irene L.} and Pascal Gu{\'e}nel and Barbara Burwinkel and Sawyer, {Elinor J.} and Antoinette Hollestelle and Olivia Fletcher and Robert Winqvist and Hermann Brenner and Arto Mannermaa and Ute Hamann and Alfons Meindl and Annika Lindblom and Wei Zheng and Peter Devillee and Goldberg, {Mark S.} and Jan Lubinski and Vessela Kristensen and Anthony Swerdlow and Hoda Anton-Culver and Thilo D{\"o}rk and Kenneth Muir and Keitaro Matsuo and Wu, {Anna H.} and Paolo Radice and Teo, {Soo Hwang} and Shu, {Xiao Ou} and William Blot and Daehee Kang and Mikael Hartman and Suleeporn Sangrajrang and Shen, {Chen Yang} and Southey, {Melissa C.} and Park, {Daniel J.} and Fleur Hammet and Jennifer Stone and Veer, {Laura J.Van T.} and Rutgers, {Emiel J.} and Artitaya Lophatananon and Sarah Stewart-Brown and Pornthep Siriwanarangsan and Julian Peto and Schrauder, {Michael G.} and Ekici, {Arif B.} and Beckmann, {Matthias W.} and {Dos Santos Silva}, Isabel and Nichola Johnson and Helen Warren and Ian Tomlinson and Kerin, {Michael J.} and Nicola Miller and Federick Marme and Andreas Schneeweiss and Christof Sohn and Therese Truong and Pierre Laurent-Puig and Pierre Kerbrat and Nordestgaard, {B{\o}rge G.} and Nielsen, {Sune F.} and Henrik Flyger and Milne, {Roger L.} and Perez, {Jose Ignacio Arias} and Primitiva Men{\'e}ndez and Heiko M{\"u}ller and Volker Arndt and Christa Stegmaier and Peter Lichtner and Magdalena Lochmann and Christina Justenhoven and Ko, {Yon Dschun} and Muranen, {Taru A.} and Kristiina Aittom{\"a}ki and Carl Blomqvist and Dario Greco and Tuomas Heikkinen and Hidemi Ito and Hiroji Iwata and Yasushi Yatabe and Antonenkova, {Natalia N.} and Sara Margolin and Vesa Kataja and Kosma, {Veli Matti} and Hartikainen, {Jaana M.} and Rosemary Balleine and Tseng, {Chiu Chen} and Berg, {David Van Den} and Stram, {Daniel O.} and Patrick Neven and Dieudonn{\'e}, {Anne Sophie} and Karin Leunen and Anja Rudolph and Stefan Nickels and Dieter Flesch-Janys and Paolo Peterlongo and Bernard Peissel and Loris Bernard and Olson, {Janet E.} and Xianshu Wang and Kristen Stevens and Gianluca Severi and Laura Baglietto and Catriona McLean and Coetzee, {Gerhard A.} and Ye Feng and Henderson, {Brian E.} and Fredrick Schumacher and Bogdanova, {Natalia V.} and France Labr{\`e}che and Martine Dumont and Yip, {Cheng Har} and Taib, {Nur Aishah Mohd} and Cheng, {Ching Yu} and Martha Shrubsole and Jirong Long and Katri Pylk{\"a}s and Arja Jukkola-Vuorinen and Saila Kauppila and Knight, {Julia A.} and Gord Glendon and Mulligan, {Anna Marie} and Tollenaar, {Robertus A.E.M.} and Seynaeve, {Caroline M.} and Mieke Kriege and Hooning, {Maartje J.} and {Van Den Ouweland}, {Ans M.W.} and {Van Deurzen}, {Carolien H.M.} and Wei Lu and Gao, {Yu Tang} and Hui Cai and Balasubramanian, {Sabapathy P.} and Cross, {Simon S.} and Reed, {Malcolm W.R.} and Lisa Signorello and Qiuyin Cai and Mitul Shah and Hui Miao and Chan, {Ching Wan} and Chia, {Kee Seng} and Anna Jakubowska and Katarzyna Jaworska and Katarzyna Durda and Hsiung, {Chia Ni} and Wu, {Pei Ei} and Yu, {Jyh Cherng} and Alan Ashworth and Michael Jones and Tessier, {Daniel C.} and Anna Gonz{\'a}lez-Neira and Guillermo Pita and Alonso, {M. Rosario} and Daniel Vincent and Francois Bacot and Ambrosone, {Christine B.} and Bandera, {Elisa V.} and John, {Esther M.} and Chen, {Gary K.} and Hu, {Jennifer J.} and Rodriguez-Gil, {Jorge L.} and Leslie Bernstein and Press, {Michael F.} and Ziegler, {Regina G.} and Millikan, {Robert M.} and Deming-Halverson, {Sandra L.} and Sarah Nyante and Ingles, {Sue A.} and Quinten Waisfisz and Helen Tsimiklis and Enes Makalic and Daniel Schmidt and Minh Bui and Lorna Gibson and Bertram M{\"u}ller-Myhsok and Schmutzler, {Rita K.} and Rebecca Hein and Norbert Dahmen and Lars Beckmann and Kirsimari Aaltonen and Kamila Czene and Astrid Irwanto and Jianjun Liu and Clare Turnbull and Nazneen Rahman and Hanne Meijers-Heijboer and Uitterlinden, {Andre G.} and Fernando Rivadeneira and Curtis Olswold and Susan Slager and Robert Pilarski and Foluso Ademuyiwa and Irene Konstantopoulou and Martin, {Nicholas G.} and Montgomery, {Grant W.} and Slamon, {Dennis J.} and Claudia Rauh and Lux, {Michael P.} and Jud, {Sebastian M.} and Thomas Bruning and Joellen Weaver and Priyanka Sharma and Harsh Pathak and Will Tapper and Sue Gerty and Lorraine Durcan and Dimitrios Trichopoulos and Rosario Tumino and Peeters, {Petra H.} and Rudolf Kaaks and Daniele Campa and Federico Canzian and Elisabete Weiderpass and Mattias Johansson and Khaw, {Kay Tee} and Ruth Travis and Fran{\c c}oise Clavel-Chapelon and Kolonel, {Laurence N.} and Constance Chen and Andy Beck and Hankinson, {Susan E.} and Berg, {Christine D.} and Hoover, {Robert N.} and Jolanta Lissowska and Figueroa, {Jonine D.} and Chasman, {Daniel I.} and Gaudet, {Mia M.} and Diver, {W. Ryan} and Willett, {Walter C.} and Hunter, {David J.} and Jacques Simard and Javier Benitez and Dunning, {Alison M.} and Sherman, {Mark E.} and Georgia Chenevix-Trench and Chanock, {Stephen J.} and Per Hall and Pharoah, {Paul D.P.} and Celine Vachon and Easton, {Douglas F.} and Haiman, {Christopher A.} and Peter Kraft",

year = "2013",

month = apr,

doi = "10.1038/ng.2561",

language = "English (US)",

volume = "45",

pages = "392--398",

journal = "Nature genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "4",

}

TY - JOUR

T1 - Genome-wide association studies identify four ER negative-specific breast cancer risk loci

AU - Garcia-Closas, Montserrat

AU - Couch, Fergus J.

AU - Lindstrom, Sara

AU - Michailidou, Kyriaki

AU - Schmidt, Marjanka K.

AU - Brook, Mark N.

AU - Orr, Nick

AU - Rhie, Suhn Kyong

AU - Riboli, Elio

AU - Feigelson, Heather S.

AU - Le Marchand, Loic

AU - Buring, Julie E.

AU - Eccles, Diana

AU - Miron, Penelope

AU - Fasching, Peter A.

AU - Brauch, Hiltrud

AU - Chang-Claude, Jenny

AU - Carpenter, Jane

AU - Godwin, Andrew K.

AU - Nevanlinna, Heli

AU - Giles, Graham G.

AU - Cox, Angela

AU - Hopper, John L.

AU - Bolla, Manjeet K.

AU - Wang, Qin

AU - Dennis, Joe

AU - Dicks, Ed

AU - Howat, Will J.

AU - Schoof, Nils

AU - Bojesen, Stig E.

AU - Lambrechts, Diether

AU - Broeks, Annegien

AU - Andrulis, Irene L.

AU - Guénel, Pascal

AU - Burwinkel, Barbara

AU - Sawyer, Elinor J.

AU - Hollestelle, Antoinette

AU - Fletcher, Olivia

AU - Winqvist, Robert

AU - Brenner, Hermann

AU - Mannermaa, Arto

AU - Hamann, Ute

AU - Meindl, Alfons

AU - Lindblom, Annika

AU - Zheng, Wei

AU - Devillee, Peter

AU - Goldberg, Mark S.

AU - Lubinski, Jan

AU - Kristensen, Vessela

AU - Swerdlow, Anthony

AU - Anton-Culver, Hoda

AU - Dörk, Thilo

AU - Muir, Kenneth

AU - Matsuo, Keitaro

AU - Wu, Anna H.

AU - Radice, Paolo

AU - Teo, Soo Hwang

AU - Shu, Xiao Ou

AU - Blot, William

AU - Kang, Daehee

AU - Hartman, Mikael

AU - Sangrajrang, Suleeporn

AU - Shen, Chen Yang

AU - Southey, Melissa C.

AU - Park, Daniel J.

AU - Hammet, Fleur

AU - Stone, Jennifer

AU - Veer, Laura J.Van T.

AU - Rutgers, Emiel J.

AU - Lophatananon, Artitaya

AU - Stewart-Brown, Sarah

AU - Siriwanarangsan, Pornthep

AU - Peto, Julian

AU - Schrauder, Michael G.

AU - Ekici, Arif B.

AU - Beckmann, Matthias W.

AU - Dos Santos Silva, Isabel

AU - Johnson, Nichola

AU - Warren, Helen

AU - Tomlinson, Ian

AU - Kerin, Michael J.

AU - Miller, Nicola

AU - Marme, Federick

AU - Schneeweiss, Andreas

AU - Sohn, Christof

AU - Truong, Therese

AU - Laurent-Puig, Pierre

AU - Kerbrat, Pierre

AU - Nordestgaard, Børge G.

AU - Nielsen, Sune F.

AU - Flyger, Henrik

AU - Milne, Roger L.

AU - Perez, Jose Ignacio Arias

AU - Menéndez, Primitiva

AU - Müller, Heiko

AU - Arndt, Volker

AU - Stegmaier, Christa

AU - Lichtner, Peter

AU - Lochmann, Magdalena

AU - Justenhoven, Christina

AU - Ko, Yon Dschun

AU - Muranen, Taru A.

AU - Aittomäki, Kristiina

AU - Blomqvist, Carl

AU - Greco, Dario

AU - Heikkinen, Tuomas

AU - Ito, Hidemi

AU - Iwata, Hiroji

AU - Yatabe, Yasushi

AU - Antonenkova, Natalia N.

AU - Margolin, Sara

AU - Kataja, Vesa

AU - Kosma, Veli Matti

AU - Hartikainen, Jaana M.

AU - Balleine, Rosemary

AU - Tseng, Chiu Chen

AU - Berg, David Van Den

AU - Stram, Daniel O.

AU - Neven, Patrick

AU - Dieudonné, Anne Sophie

AU - Leunen, Karin

AU - Rudolph, Anja

AU - Nickels, Stefan

AU - Flesch-Janys, Dieter

AU - Peterlongo, Paolo

AU - Peissel, Bernard

AU - Bernard, Loris

AU - Olson, Janet E.

AU - Wang, Xianshu

AU - Stevens, Kristen

AU - Severi, Gianluca

AU - Baglietto, Laura

AU - McLean, Catriona

AU - Coetzee, Gerhard A.

AU - Feng, Ye

AU - Henderson, Brian E.

AU - Schumacher, Fredrick

AU - Bogdanova, Natalia V.

AU - Labrèche, France

AU - Dumont, Martine

AU - Yip, Cheng Har

AU - Taib, Nur Aishah Mohd

AU - Cheng, Ching Yu

AU - Shrubsole, Martha

AU - Long, Jirong

AU - Pylkäs, Katri

AU - Jukkola-Vuorinen, Arja

AU - Kauppila, Saila

AU - Knight, Julia A.

AU - Glendon, Gord

AU - Mulligan, Anna Marie

AU - Tollenaar, Robertus A.E.M.

AU - Seynaeve, Caroline M.

AU - Kriege, Mieke

AU - Hooning, Maartje J.

AU - Van Den Ouweland, Ans M.W.

AU - Van Deurzen, Carolien H.M.

AU - Lu, Wei

AU - Gao, Yu Tang

AU - Cai, Hui

AU - Balasubramanian, Sabapathy P.

AU - Cross, Simon S.

AU - Reed, Malcolm W.R.

AU - Signorello, Lisa

AU - Cai, Qiuyin

AU - Shah, Mitul

AU - Miao, Hui

AU - Chan, Ching Wan

AU - Chia, Kee Seng

AU - Jakubowska, Anna

AU - Jaworska, Katarzyna

AU - Durda, Katarzyna

AU - Hsiung, Chia Ni

AU - Wu, Pei Ei

AU - Yu, Jyh Cherng

AU - Ashworth, Alan

AU - Jones, Michael

AU - Tessier, Daniel C.

AU - González-Neira, Anna

AU - Pita, Guillermo

AU - Alonso, M. Rosario

AU - Vincent, Daniel

AU - Bacot, Francois

AU - Ambrosone, Christine B.

AU - Bandera, Elisa V.

AU - John, Esther M.

AU - Chen, Gary K.

AU - Hu, Jennifer J.

AU - Rodriguez-Gil, Jorge L.

AU - Bernstein, Leslie

AU - Press, Michael F.

AU - Ziegler, Regina G.

AU - Millikan, Robert M.

AU - Deming-Halverson, Sandra L.

AU - Nyante, Sarah

AU - Ingles, Sue A.

AU - Waisfisz, Quinten

AU - Tsimiklis, Helen

AU - Makalic, Enes

AU - Schmidt, Daniel

AU - Bui, Minh

AU - Gibson, Lorna

AU - Müller-Myhsok, Bertram

AU - Schmutzler, Rita K.

AU - Hein, Rebecca

AU - Dahmen, Norbert

AU - Beckmann, Lars

AU - Aaltonen, Kirsimari

AU - Czene, Kamila

AU - Irwanto, Astrid

AU - Liu, Jianjun

AU - Turnbull, Clare

AU - Rahman, Nazneen

AU - Meijers-Heijboer, Hanne

AU - Uitterlinden, Andre G.

AU - Rivadeneira, Fernando

AU - Olswold, Curtis

AU - Slager, Susan

AU - Pilarski, Robert

AU - Ademuyiwa, Foluso

AU - Konstantopoulou, Irene

AU - Martin, Nicholas G.

AU - Montgomery, Grant W.

AU - Slamon, Dennis J.

AU - Rauh, Claudia

AU - Lux, Michael P.

AU - Jud, Sebastian M.

AU - Bruning, Thomas

AU - Weaver, Joellen

AU - Sharma, Priyanka

AU - Pathak, Harsh

AU - Tapper, Will

AU - Gerty, Sue

AU - Durcan, Lorraine

AU - Trichopoulos, Dimitrios

AU - Tumino, Rosario

AU - Peeters, Petra H.

AU - Kaaks, Rudolf

AU - Campa, Daniele

AU - Canzian, Federico

AU - Weiderpass, Elisabete

AU - Johansson, Mattias

AU - Khaw, Kay Tee

AU - Travis, Ruth

AU - Clavel-Chapelon, Françoise

AU - Kolonel, Laurence N.

AU - Chen, Constance

AU - Beck, Andy

AU - Hankinson, Susan E.

AU - Berg, Christine D.

AU - Hoover, Robert N.

AU - Lissowska, Jolanta

AU - Figueroa, Jonine D.

AU - Chasman, Daniel I.

AU - Gaudet, Mia M.

AU - Diver, W. Ryan

AU - Willett, Walter C.

AU - Hunter, David J.

AU - Simard, Jacques

AU - Benitez, Javier

AU - Dunning, Alison M.

AU - Sherman, Mark E.

AU - Chenevix-Trench, Georgia

AU - Chanock, Stephen J.

AU - Hall, Per

AU - Pharoah, Paul D.P.

AU - Vachon, Celine

AU - Easton, Douglas F.

AU - Haiman, Christopher A.

AU - Kraft, Peter

PY - 2013/4

Y1 - 2013/4

N2 - Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10-12 and LGR6, P = 1.4 × 10-8), 2p24.1 (P = 4.6 × 10-8) and 16q12.2 (FTO, P = 4.0 × 10-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

AB - Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a meta-analysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environment Study (COGS). SNPs at four loci, 1q32.1 (MDM4, P = 2.1 × 10-12 and LGR6, P = 1.4 × 10-8), 2p24.1 (P = 4.6 × 10-8) and 16q12.2 (FTO, P = 4.0 × 10-8), were associated with ER-negative but not ER-positive breast cancer (P > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.

UR - http://www.scopus.com/inward/record.url?scp=84875701351&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875701351&partnerID=8YFLogxK

U2 - 10.1038/ng.2561

DO - 10.1038/ng.2561

M3 - Article

C2 - 23535733

AN - SCOPUS:84875701351

SN - 1061-4036

VL - 45

SP - 392

EP - 398

JO - Nature genetics

JF - Nature genetics

IS - 4

ER -

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

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