Genome-wide association studies identify four ER negative-specific breast cancer risk loci. 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., 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., Blot, W., Kang, D., Hartman, M., Sangrajrang, S., Shen, C., 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., Gene ENvironmental Interaction, Network, b. C. (., 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., Hartikainen, J. M., Balleine, R., kConFab Investigators, Tseng, C., Berg, D. V. D., Stram, D. O., Neven, P., Dieudonné, A., 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., 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., 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., Wu, P., Yu, J., 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., Familial Breast Cancer Study (FBCS), Rahman, N., Meijers-Heijboer, H., Uitterlinden, A. G., Rivadeneira, F., Australian Breast Cancer Tissue Bank (ABCTB) Investigators, 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., 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. Nature Genetics, 45(4):392–398, 398e1–2, April, 2013.
doi  abstract   bibtex   
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 \textgreater 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
@article{garcia-closas_genome-wide_2013,
	title = {Genome-wide association studies identify four {ER} negative-specific breast cancer risk loci},
	volume = {45},
	issn = {1546-1718},
	doi = {10.1038/ng.2561},
	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 {\textgreater} 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.},
	language = {eng},
	number = {4},
	journal = {Nature Genetics},
	author = {Garcia-Closas, Montserrat and Couch, Fergus J. and Lindstrom, Sara and Michailidou, Kyriaki and Schmidt, Marjanka K. and Brook, Mark N. and Orr, Nick and Rhie, Suhn Kyong and Riboli, Elio and Feigelson, Heather S. and Le Marchand, Loic and Buring, Julie E. and Eccles, Diana and Miron, Penelope and Fasching, Peter A. and Brauch, Hiltrud and Chang-Claude, Jenny and Carpenter, Jane and Godwin, Andrew K. and Nevanlinna, Heli and Giles, Graham G. and Cox, Angela and Hopper, John L. and Bolla, Manjeet K. and Wang, Qin and Dennis, Joe and Dicks, Ed and Howat, Will J. and Schoof, Nils and Bojesen, Stig E. and Lambrechts, Diether and Broeks, Annegien and Andrulis, Irene L. and Guénel, Pascal and Burwinkel, Barbara and Sawyer, Elinor J. and Hollestelle, Antoinette and Fletcher, Olivia and Winqvist, Robert and Brenner, Hermann and Mannermaa, Arto and Hamann, Ute and Meindl, Alfons and Lindblom, Annika and Zheng, Wei and Devillee, Peter and Goldberg, Mark S. and Lubinski, Jan and Kristensen, Vessela and Swerdlow, Anthony and Anton-Culver, Hoda and Dörk, Thilo and Muir, Kenneth and Matsuo, Keitaro and Wu, Anna H. and Radice, Paolo and Teo, Soo Hwang and Shu, Xiao-Ou and Blot, William and Kang, Daehee and Hartman, Mikael and Sangrajrang, Suleeporn and Shen, Chen-Yang and Southey, Melissa C. and Park, Daniel J. and Hammet, Fleur and Stone, Jennifer and Veer, Laura J. Van't and Rutgers, Emiel J. and Lophatananon, Artitaya and Stewart-Brown, Sarah and Siriwanarangsan, Pornthep and Peto, Julian and Schrauder, Michael G. and Ekici, Arif B. and Beckmann, Matthias W. and Dos Santos Silva, Isabel and Johnson, Nichola and Warren, Helen and Tomlinson, Ian and Kerin, Michael J. and Miller, Nicola and Marme, Federick and Schneeweiss, Andreas and Sohn, Christof and Truong, Therese and Laurent-Puig, Pierre and Kerbrat, Pierre and Nordestgaard, Børge G. and Nielsen, Sune F. and Flyger, Henrik and Milne, Roger L. and Perez, Jose Ignacio Arias and Menéndez, Primitiva and Müller, Heiko and Arndt, Volker and Stegmaier, Christa and Lichtner, Peter and Lochmann, Magdalena and Justenhoven, Christina and Ko, Yon-Dschun and {Gene ENvironmental Interaction and breast CAncer (GENICA) Network} and Muranen, Taru A. and Aittomäki, Kristiina and Blomqvist, Carl and Greco, Dario and Heikkinen, Tuomas and Ito, Hidemi and Iwata, Hiroji and Yatabe, Yasushi and Antonenkova, Natalia N. and Margolin, Sara and Kataja, Vesa and Kosma, Veli-Matti and Hartikainen, Jaana M. and Balleine, Rosemary and {kConFab Investigators} and Tseng, Chiu-Chen and Berg, David Van Den and Stram, Daniel O. and Neven, Patrick and Dieudonné, Anne-Sophie and Leunen, Karin and Rudolph, Anja and Nickels, Stefan and Flesch-Janys, Dieter and Peterlongo, Paolo and Peissel, Bernard and Bernard, Loris and Olson, Janet E. and Wang, Xianshu and Stevens, Kristen and Severi, Gianluca and Baglietto, Laura and McLean, Catriona and Coetzee, Gerhard A. and Feng, Ye and Henderson, Brian E. and Schumacher, Fredrick and Bogdanova, Natalia V. and Labrèche, France and Dumont, Martine and Yip, Cheng Har and Taib, Nur Aishah Mohd and Cheng, Ching-Yu and Shrubsole, Martha and Long, Jirong and Pylkäs, Katri and Jukkola-Vuorinen, Arja and Kauppila, Saila and Knight, Julia A. and Glendon, Gord and Mulligan, Anna Marie and Tollenaar, Robertus A. E. M. and Seynaeve, Caroline M. and Kriege, Mieke and Hooning, Maartje J. and van den Ouweland, Ans M. W. and van Deurzen, Carolien H. M. and Lu, Wei and Gao, Yu-Tang and Cai, Hui and Balasubramanian, Sabapathy P. and Cross, Simon S. and Reed, Malcolm W. R. and Signorello, Lisa and Cai, Qiuyin and Shah, Mitul and Miao, Hui and Chan, Ching Wan and Chia, Kee Seng and Jakubowska, Anna and Jaworska, Katarzyna and Durda, Katarzyna and Hsiung, Chia-Ni and Wu, Pei-Ei and Yu, Jyh-Cherng and Ashworth, Alan and Jones, Michael and Tessier, Daniel C. and González-Neira, Anna and Pita, Guillermo and Alonso, M. Rosario and Vincent, Daniel and Bacot, Francois 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 Bernstein, Leslie and Press, Michael F. and Ziegler, Regina G. and Millikan, Robert M. and Deming-Halverson, Sandra L. and Nyante, Sarah and Ingles, Sue A. and Waisfisz, Quinten and Tsimiklis, Helen and Makalic, Enes and Schmidt, Daniel and Bui, Minh and Gibson, Lorna and Müller-Myhsok, Bertram and Schmutzler, Rita K. and Hein, Rebecca and Dahmen, Norbert and Beckmann, Lars and Aaltonen, Kirsimari and Czene, Kamila and Irwanto, Astrid and Liu, Jianjun and Turnbull, Clare and {Familial Breast Cancer Study (FBCS)} and Rahman, Nazneen and Meijers-Heijboer, Hanne and Uitterlinden, Andre G. and Rivadeneira, Fernando and {Australian Breast Cancer Tissue Bank (ABCTB) Investigators} and Olswold, Curtis and Slager, Susan and Pilarski, Robert and Ademuyiwa, Foluso and Konstantopoulou, Irene and Martin, Nicholas G. and Montgomery, Grant W. and Slamon, Dennis J. and Rauh, Claudia and Lux, Michael P. and Jud, Sebastian M. and Bruning, Thomas and Weaver, Joellen and Sharma, Priyanka and Pathak, Harsh and Tapper, Will and Gerty, Sue and Durcan, Lorraine and Trichopoulos, Dimitrios and Tumino, Rosario and Peeters, Petra H. and Kaaks, Rudolf and Campa, Daniele and Canzian, Federico and Weiderpass, Elisabete and Johansson, Mattias and Khaw, Kay-Tee and Travis, Ruth and Clavel-Chapelon, Françoise and Kolonel, Laurence N. and Chen, Constance and Beck, Andy and Hankinson, Susan E. and Berg, Christine D. and Hoover, Robert N. and Lissowska, Jolanta 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 Simard, Jacques and Benitez, Javier and Dunning, Alison M. and Sherman, Mark E. and Chenevix-Trench, Georgia and Chanock, Stephen J. and Hall, Per and Pharoah, Paul D. P. and Vachon, Celine and Easton, Douglas F. and Haiman, Christopher A. and Kraft, Peter},
	month = apr,
	year = {2013},
	pmid = {23535733},
	pmcid = {PMC3771695},
	keywords = {Breast Neoplasms, Case-Control Studies, Cooperative Behavior, Female, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Meta-Analysis as Topic, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Receptors, Estrogen, Risk Factors},
	pages = {392--398, 398e1--2},
}
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