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Cited by 406

The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.

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

Open access
The Gene ENvironmental Interaction and breast CAncer (GENICA) Network, Garcia-Closas, Montserrat, kConFab Investigators, Familial Breast Cancer Study (FBCS), Australian Breast Cancer Tissue Bank (ABCTB) Investigators, Couch, Fergus J, Lindstrom, Sara, Michailidou, Kyriaki, Schmidt, Marjanka K, Brook, Mark N, Orr, Nick, Rhie, Suhn Kyong, Riboli, Elio, Feigelson, Heather S, Le Marchand, Loic, Buring, Julie E, Eccles, Diana, Miron, Penelope, Fasching, Peter A, Brauch, Hiltrud, Chang-Claude, Jenny, Carpenter, Jane, Godwin, Andrew K, Nevanlinna, Heli, Giles, Graham G, Cox, Angela, Hopper, John L, Bolla, Manjeet K, Wang, Qin, Dennis, Joe, Dicks, Ed, Howat, Will J, Schoof, Nils, Bojesen, Stig E, Lambrechts, Diether, Broeks, Annegien, Andrulis, Irene L, Guénel, Pascal, Burwinkel, Barbara, Sawyer, Elinor J, Hollestelle, Antoinette, Fletcher, Olivia, Winqvist, Robert, Brenner, Hermann, Mannermaa, Arto, Hamann, Ute, Meindl, Alfons, Lindblom, Annika, Zheng, Wei, Devillee, Peter, Goldberg, Mark S, Lubinski, Jan, Kristensen, Vessela, Swerdlow, Anthony, Anton-Culver, Hoda, Dörk, Thilo, Muir, Kenneth, Matsuo, Keitaro, Wu, Anna H, Radice, Paolo, Teo, Soo Hwang, Shu, Xiao-Ou, Blot, William, Kang, Daehee, Hartman, Mikael, Sangrajrang, Suleeporn, Shen, Chen-Yang, Southey, Melissa C, Park, Daniel J, Hammet, Fleur, Stone, Jennifer, Veer, Laura J Van't, Rutgers, Emiel J, Lophatananon, Artitaya, Stewart-Brown, Sarah, Siriwanarangsan, Pornthep, Peto, Julian, Schrauder, Michael G, Ekici, Arif B, Beckmann, Matthias W, dos Santos Silva, Isabel, Johnson, Nichola, Warren, Helen, Tomlinson, Ian, Kerin, Michael J, Miller, Nicola, Marme, Federick, Schneeweiss, Andreas, Sohn, Christof, Truong, Therese, Laurent-Puig, Pierre, Kerbrat, Pierre, Nordestgaard, Børge G, Nielsen, Sune F, Flyger, Henrik, Milne, Roger L, Perez, Jose Ignacio Arias, Menéndez, Primitiva, Müller, Heiko, Arndt, Volker, Stegmaier, Christa, Lichtner, Peter, Lochmann, Magdalena, Justenhoven, Christina, Ko, Yon-Dschun, Muranen, Taru A, Aittomäki, Kristiina, Blomqvist, Carl, Greco, Dario, Heikkinen, Tuomas, Ito, Hidemi, Iwata, Hiroji, Yatabe, Yasushi, Antonenkova, Natalia N, Margolin, Sara, Kataja, Vesa, Kosma, Veli-Matti, Hartikainen, Jaana M, Balleine, Rosemary, Tseng, Chiu-Chen, Berg, David Van Den, Stram, Daniel O, Neven, Patrick, Dieudonné, Anne-Sophie, Leunen, Karin, Rudolph, Anja, Nickels, Stefan, Flesch-Janys, Dieter, Peterlongo, Paolo, Peissel, Bernard, Bernard, Loris, Olson, Janet E, Wang, Xianshu, Stevens, Kristen, Severi, Gianluca, Baglietto, Laura, McLean, Catriona, Coetzee, Gerhard A, Feng, Ye, Henderson, Brian E, Schumacher, Fredrick, Bogdanova, Natalia V, Labrèche, France, Dumont, Martine, Yip, Cheng Har, Taib, Nur Aishah Mohd, Cheng, Ching-Yu, Shrubsole, Martha, Long, Jirong, Pylkäs, Katri, Jukkola-Vuorinen, Arja, Kauppila, Saila, Knight, Julia A, Glendon, Gord, Mulligan, Anna Marie, Tollenaar, Robertus A E M, Seynaeve, Caroline M, Kriege, Mieke, Hooning, Maartje J, van den Ouweland, Ans M W, van Deurzen, Carolien H M, Lu, Wei, Gao, Yu-Tang, Cai, Hui, Balasubramanian, Sabapathy P, Cross, Simon S, Reed, Malcolm W R, Signorello, Lisa, Cai, Qiuyin, Shah, Mitul, Miao, Hui, Chan, Ching Wan, Chia, Kee Seng, Jakubowska, Anna, Jaworska, Katarzyna, Durda, Katarzyna, Hsiung, Chia-Ni, Wu, Pei-Ei, Yu, Jyh-Cherng, Ashworth, Alan, Jones, Michael, Tessier, Daniel C, González-Neira, Anna, Pita, Guillermo, Alonso, M Rosario, Vincent, Daniel, Bacot, Francois, Ambrosone, Christine B, Bandera, Elisa V, John, Esther M, Chen, Gary K, Hu, Jennifer J, Rodriguez-Gil, Jorge L, Bernstein, Leslie, Press, Michael F, Ziegler, Regina G, Millikan, Robert M, Deming-Halverson, Sandra L, Nyante, Sarah, Ingles, Sue A, Waisfisz, Quinten, Tsimiklis, Helen, Makalic, Enes, Schmidt, Daniel, Bui, Minh, Gibson, Lorna, Müller-Myhsok, Bertram, Schmutzler, Rita K, Hein, Rebecca, Dahmen, Norbert, Beckmann, Lars, Aaltonen, Kirsimari, Czene, Kamila, Irwanto, Astrid, Liu, Jianjun, Turnbull, Clare, Rahman, Nazneen, Meijers-Heijboer, Hanne, Uitterlinden, Andre G, Rivadeneira, Fernando, Olswold, Curtis, Slager, Susan, Pilarski, Robert, Ademuyiwa, Foluso, Konstantopoulou, Irene, Martin, Nicholas G, Montgomery, Grant W, Slamon, Dennis J, Rauh, Claudia, Lux, Michael P, Jud, Sebastian M, Bruning, Thomas, Weaver, JoEllen, Sharma, Priyanka, Pathak, Harsh, Tapper, Will, Gerty, Sue, Durcan, Lorraine, Trichopoulos, Dimitrios, Tumino, Rosario, Peeters, Petra H, Kaaks, Rudolf, Campa, Daniele, Canzian, Federico, Weiderpass, Elisabete, Johansson, Mattias, Khaw, Kay-Tee, Travis, Ruth, Clavel-Chapelon, Françoise, Kolonel, Laurence N, Chen, Constance, Beck, Andy, Hankinson, Susan E, Berg, Christine D, Hoover, Robert N, Lissowska, Jolanta, Figueroa, Jonine D, Chasman, Daniel I, Gaudet, Mia M, Diver, W Ryan, Willett, Walter C, Hunter, David J, Simard, Jacques, Benitez, Javier, Dunning, Alison M, Sherman, Mark E, Chenevix-Trench, Georgia, Chanock, Stephen J, Hall, Per, Pharoah, Paul D P, Vachon, Celine, Easton, Douglas F, Haiman, Christopher A, Kraft, Peter·2013·Nature Genetics
DOI 10.1038/ng.2561
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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.

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Authors
The Gene ENvironmental Interaction and breast CAncer (GENICA) Network, Garcia-Closas, M., kConFab Investigators, (FBCS), F. B. C. S., Australian Breast Cancer Tissue Bank (ABCTB) Investigators, 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., Nevanlinna, H., Giles, G. G., Cox, A., Hopper, J. L., Bolla, M. K., Wang, Q., Dennis, J., Dicks, E., Howat, W. J., Schoof, N., Bojesen, S. E., Lambrechts, D., Broeks, A., Andrulis, I. L., Guénel, P., Burwinkel, B., Sawyer, E. J., Hollestelle, A., Fletcher, O., Winqvist, R., Brenner, H., Mannermaa, A., Hamann, U., Meindl, A., Lindblom, A., Zheng, W., Devillee, P., Goldberg, M. S., Lubinski, J., Kristensen, V., Swerdlow, A., Anton-Culver, H., Dörk, T., Muir, K., Matsuo, K., Wu, A. H., Radice, P., Teo, S. H., Shu, X.-O., Blot, W., Kang, D., Hartman, M., Sangrajrang, S., Shen, C.-Y., Southey, M. C., Park, D. J., Hammet, F., Stone, J., Veer, L. J. V., Rutgers, E. J., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Peto, J., Schrauder, M. G., Ekici, A. B., Beckmann, M. W., dos Santos Silva, I., Johnson, N., Warren, H., Tomlinson, I., Kerin, M. J., Miller, N., Marme, F., Schneeweiss, A., Sohn, C., Truong, T., Laurent-Puig, P., Kerbrat, P., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Milne, R. L., Perez, J. I. A., Menéndez, P., Müller, H., Arndt, V., Stegmaier, C., Lichtner, P., Lochmann, M., Justenhoven, C., Ko, Y.-D., Muranen, T. A., Aittomäki, K., Blomqvist, C., Greco, D., Heikkinen, T., Ito, H., Iwata, H., Yatabe, Y., Antonenkova, N. N., Margolin, S., Kataja, V., Kosma, V.-M., Hartikainen, J. M., Balleine, R., Tseng, C.-C., Berg, D. V. D., Stram, D. O., Neven, P., Dieudonné, A.-S., Leunen, K., Rudolph, A., Nickels, S., Flesch-Janys, D., Peterlongo, P., Peissel, B., Bernard, L., Olson, J. E., Wang, X., Stevens, K., Severi, G., Baglietto, L., McLean, C., Coetzee, G. A., Feng, Y., Henderson, B. E., Schumacher, F., Bogdanova, N. V., Labrèche, F., Dumont, M., Yip, C. H., Taib, N. A. M., Cheng, C.-Y., Shrubsole, M., Long, J., Pylkäs, K., Jukkola-Vuorinen, A., Kauppila, S., Knight, J. A., Glendon, G., Mulligan, A. M., Tollenaar, R. A. E. M., Seynaeve, C. M., Kriege, M., Hooning, M. J., van den Ouweland, A. M. W., van Deurzen, C. H. M., Lu, W., Gao, Y.-T., Cai, H., Balasubramanian, S. P., Cross, S. S., Reed, M. W. R., Signorello, L., Cai, Q., Shah, M., Miao, H., Chan, C. W., Chia, K. S., Jakubowska, A., Jaworska, K., Durda, K., Hsiung, C.-N., Wu, P.-E., Yu, J.-C., Ashworth, A., Jones, M., Tessier, D. C., González-Neira, A., Pita, G., Alonso, M. R., Vincent, D., Bacot, F., Ambrosone, C. B., Bandera, E. V., John, E. M., Chen, G. K., Hu, J. J., Rodriguez-Gil, J. L., Bernstein, L., Press, M. F., Ziegler, R. G., Millikan, R. M., Deming-Halverson, S. L., Nyante, S., Ingles, S. A., Waisfisz, Q., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Gibson, L., Müller-Myhsok, B., Schmutzler, R. K., Hein, R., Dahmen, N., Beckmann, L., Aaltonen, K., Czene, K., Irwanto, A., Liu, J., Turnbull, C., Rahman, N., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Olswold, C., Slager, S., Pilarski, R., Ademuyiwa, F., Konstantopoulou, I., Martin, N. G., Montgomery, G. W., Slamon, D. J., Rauh, C., Lux, M. P., Jud, S. M., Bruning, T., Weaver, J., Sharma, P., Pathak, H., Tapper, W., Gerty, S., Durcan, L., Trichopoulos, D., Tumino, R., Peeters, P. H., Kaaks, R., Campa, D., Canzian, F., Weiderpass, E., Johansson, M., Khaw, K.-T., Travis, R., Clavel-Chapelon, F., Kolonel, L. N., Chen, C., Beck, A., Hankinson, S. E., Berg, C. D., Hoover, R. N., Lissowska, J., Figueroa, J. D., Chasman, D. I., Gaudet, M. M., Diver, W. R., Willett, W. C., Hunter, D. J., Simard, J., Benitez, J., Dunning, A. M., Sherman, M. E., Chenevix-Trench, G., Chanock, S. J., Hall, P., Pharoah, P. D. P., Vachon, C., Easton, D. F., Haiman, C. A., & Kraft, P.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2013-03-27
Volume
45
Issue
4
Pages
392-398
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.2561
OpenAlex
W2132559433
Cited by
406
References
25
FWCI
40.26
Type
journal article
Language
en
Open access
green

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The Gene ENvironmental Interaction and breast CAncer (GENICA) Network, Garcia-Closas, M., kConFab Investigators, (FBCS), F. B. C. S., Australian Breast Cancer Tissue Bank (ABCTB) Investigators, 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., . . . Kraft, P. (2013). Genome-wide association studies identify four ER negative–specific breast cancer risk loci. Nature Genetics. https://doi.org/10.1038/ng.2561

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