Please use this identifier to cite or link to this item: https://doi.org/10.1038/ng.2561
Title: Genome-wide association studies identify four ER negative-specific breast cancer risk loci
Authors: 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.-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, Bø.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.
Issue Date: Apr-2013
Citation: 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.-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, Bø.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. (2013-04). Genome-wide association studies identify four ER negative-specific breast cancer risk loci. Nature Genetics 45 (4) : 392-398. ScholarBank@NUS Repository. https://doi.org/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 > 0.05). These findings provide further evidence for distinct etiological pathways associated with invasive ER-positive and ER-negative breast cancers.
Source Title: Nature Genetics
URI: http://scholarbank.nus.edu.sg/handle/10635/108942
ISSN: 10614036
DOI: 10.1038/ng.2561
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