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201. MicroRNA Related Polymorphisms and Breast Cancer Risk

Author: Khan, Salima, Greco, D, Michailidou, K, Milne, RL, Muranen, TA, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, MK, Liu, J (Jingjing), Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, Silva, ID, Johnson, N, Gibson, L, Aitken, Z, Hopper, JL, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, DF, Southey, MC, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA (Muriel), van der Luijt, RB, Meindl, A, Schmutzler, RK, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, SJ, Hunter, DJ, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK (Marjanka), Broeks, A, van 't Veer, LJ (Laura), Hogervorst, FB, Fasching, PA, Schrauder, MG, Ekici, AB, Beckmann, MW, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, PM, Perez, JIA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Pharoah, PDP, Dunning, AM, Shah, M, Luben, R, Brown, J, Couch, FJ, Wang, X, Vachon, C, Olson, JE, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, MR, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Tchatchou, S, Mulligan, AM, Dork, T, Bogdanova, NV, Antonenkova, NN, Anton-Culver, H, Darabi, H, Eriksson, M, Garcia-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, van Asperen, CJ, Kristensen, VN, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Lindblom, A, Margolin, S, Radice, P, Peterlongo, P, Barile, M, Mariani, P, Hooning, Maartje, Martens, John, Collee, Margriet, Jager, Agnes, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Giles, GG, McLean, C, Brauch, H, Bruning, T, Ko, YD, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Kataja, V, Kosma, VM, Hartikainen, JM, Mannermaa, A, Hamann, U, Chenevix-Trench, G, Blomqvist, C, Aittomaki, K, Easton, DF, Nevanlinna, H, Khan, Salima, Greco, D, Michailidou, K, Milne, RL, Muranen, TA, Heikkinen, T, Aaltonen, K, Dennis, J, Bolla, MK, Liu, J (Jingjing), Hall, P, Irwanto, A, Humphreys, K, Li, J, Czene, K, Chang-Claude, J, Hein, R, Rudolph, A, Seibold, P, Flesch-Janys, D, Fletcher, O, Peto, J, Silva, ID, Johnson, N, Gibson, L, Aitken, Z, Hopper, JL, Tsimiklis, H, Bui, M, Makalic, E, Schmidt, DF, Southey, MC, Apicella, C, Stone, J, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA (Muriel), van der Luijt, RB, Meindl, A, Schmutzler, RK, Muller-Myhsok, B, Lichtner, P, Turnbull, C, Rahman, N, Chanock, SJ, Hunter, DJ, Cox, A, Cross, SS, Reed, MWR, Schmidt, MK (Marjanka), Broeks, A, van 't Veer, LJ (Laura), Hogervorst, FB, Fasching, PA, Schrauder, MG, Ekici, AB, Beckmann, MW, Bojesen, SE, Nordestgaard, BG, Nielsen, SF, Flyger, H, Benitez, J, Zamora, PM, Perez, JIA, Haiman, CA, Henderson, BE, Schumacher, F, Le Marchand, L, Pharoah, PDP, Dunning, AM, Shah, M, Luben, R, Brown, J, Couch, FJ, Wang, X, Vachon, C, Olson, JE, Lambrechts, D, Moisse, M, Paridaens, R, Christiaens, MR, Guenel, P, Truong, T, Laurent-Puig, P, Mulot, C, Marme, F, Burwinkel, B, Schneeweiss, A, Sohn, C, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, Andrulis, IL, Knight, JA, Tchatchou, S, Mulligan, AM, Dork, T, Bogdanova, NV, Antonenkova, NN, Anton-Culver, H, Darabi, H, Eriksson, M, Garcia-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Devilee, P, Tollenaar, RAEM, Seynaeve, Caroline, van Asperen, CJ, Kristensen, VN, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Lindblom, A, Margolin, S, Radice, P, Peterlongo, P, Barile, M, Mariani, P, Hooning, Maartje, Martens, John, Collee, Margriet, Jager, Agnes, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Giles, GG, McLean, C, Brauch, H, Bruning, T, Ko, YD, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Swerdlow, A, Ashworth, A, Orr, N, Jones, M, Simard, J, Goldberg, MS, Labreche, F, Dumont, M, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Kataja, V, Kosma, VM, Hartikainen, JM, Mannermaa, A, Hamann, U, Chenevix-Trench, G, Blomqvist, C, Aittomaki, K, Easton, DF, and Nevanlinna, H
Abstract: Genetic variations, such as single nucleotide polymorphisms (SNPs) in microRNAs (miRNA) or in the miRNA binding sites may affect the miRNA dependent gene expression regulation, which has been implicated in various cancers, including breast cancer, and may alter individual susceptibility to cancer. We investigated associations between miRNA related SNPs and breast cancer risk. First we evaluated 2,196 SNPs in a case-control study combining nine genome wide association studies (GWAS). Second, we further investigated 42 SNPs with suggestive evidence for association using 41,785 cases and 41,880 controls from 41 studies included in the Breast Cancer Association Consortium (BCAC). Combining the GWAS and BCAC data within a meta-analysis, we estimated main effects on breast cancer risk as well as risks for estrogen receptor (ER) and age defined subgroups. Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. DROSHA belongs to miRNA machinery genes and has a central role in initial miRNA processing. The remaining genes are involved in different molecular functions, including apoptosis and gene expression regulation. Further studies are warranted to elucidate whether the miRNA binding site SNPs are the causative variants for the observed risk effects.
Published: 2014

202. AIRBORNE INVESTIGATIONS OF SO2 OXIDATION IN THE PLUMES FROM POWER STATIONS

Author: FLYGER, H., primary, LEWIN, E., additional, THOMSEN, E.LUND., additional, FENGER, J., additional, LYCK, E., additional, and GRYNING, S.E., additional
Published: 1978
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203. Abstract P5-14-12: Cosmetic outcome is better after intraoperative radiotherapy compared with external beam radiotherapy: An objective assessment of patients from a randomized controlled trial

Author: Keshtgar, M, primary, Williams, NR, additional, Corica, T, additional, Bulsara, M, additional, Saunders, C, additional, Flyger, H, additional, Bentzon, N, additional, Cardoso, JS, additional, Michalopoulos, N, additional, and Joseph, DJ, additional
Published: 2013
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204. 9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: Evidence from the Breast Cancer Association Consortium

Author: Warren, H. (Helen), Dudbridge, F. (Frank), Fletcher, O. (Olivia), Orr, N. (Nick), Johnson, N. (Nichola), Hopper, J.L. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Mahmoodi, M. (Maryam), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Braaf, L.M. (Linde), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Chaiwerawattana, A. (Arkom), Wiangnon, S. (Surapon), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Nordestgaard, B.G. (Børge), Milne, R.L. (Roger), Benítez, J. (Javier), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Langheinz, A. (Anne), Meindl, A. (Alfons), Golatta, M. (Michael), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Brüning, T. (Thomas), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Eilber, U. (Ursula), Dörk, T. (Thilo), Schürmann, P. (Peter), Bremer, M. (Michael), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, Y.I. (Yuri), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Zinnatullina, G. (Guzel), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Lambrechts, D. (Diether), Smeets, A. (Ann), Paridaens, R. (Robert), Weltens, C. (Caroline), Flesch-Janys, D. (Dieter), Buck, K. (Katharina), Behrens, T.W. (Timothy), Peterlongo, P. (Paolo), Bernard, L. (Loris), Manoukian, S. (Siranoush), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Wang, X. (Xing), Olson, J.E. (Janet), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Cariona), Severi, G. (Gianluca), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Mulligan, A.M. (Anna Marie), Weerasooriya, N. (Nayana), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Li, J. (Jingmei), Cox, A. (Angela), Cross, S.S. (Simon), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Ghoussaini, M. (Maya), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Jones, M. (Marta), Schoemaker, M. (Minouk), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Warren, H. (Helen), Dudbridge, F. (Frank), Fletcher, O. (Olivia), Orr, N. (Nick), Johnson, N. (Nichola), Hopper, J.L. (John), Apicella, C. (Carmel), Southey, M.C. (Melissa), Mahmoodi, M. (Maryam), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Cornelissen, S. (Sten), Braaf, L.M. (Linde), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Chaiwerawattana, A. (Arkom), Wiangnon, S. (Surapon), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Guénel, P. (Pascal), Truong, T. (Thérèse), Laurent-Puig, P. (Pierre), Mulot, C. (Claire), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Flyger, H. (Henrik), Nordestgaard, B.G. (Børge), Milne, R.L. (Roger), Benítez, J. (Javier), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Langheinz, A. (Anne), Meindl, A. (Alfons), Golatta, M. (Michael), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Brüning, T. (Thomas), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Eilber, U. (Ursula), Dörk, T. (Thilo), Schürmann, P. (Peter), Bremer, M. (Michael), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, Y.I. (Yuri), Bermisheva, M. (Marina), Prokofyeva, D. (Darya), Zinnatullina, G. (Guzel), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Kataja, V. (Vesa), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Lambrechts, D. (Diether), Smeets, A. (Ann), Paridaens, R. (Robert), Weltens, C. (Caroline), Flesch-Janys, D. (Dieter), Buck, K. (Katharina), Behrens, T.W. (Timothy), Peterlongo, P. (Paolo), Bernard, L. (Loris), Manoukian, S. (Siranoush), Radice, P. (Paolo), Couch, F.J. (Fergus), Vachon, C. (Celine), Wang, X. (Xing), Olson, J.E. (Janet), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Cariona), Severi, G. (Gianluca), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Mulligan, A.M. (Anna Marie), Weerasooriya, N. (Nayana), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Jager, A. (Agnes), Tilanus-Linthorst, M.M.A. (Madeleine), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Li, J. (Jingmei), Cox, A. (Angela), Cross, S.S. (Simon), Brock, I.W. (Ian), Reed, M.W.R. (Malcolm), Pharoah, P.D.P. (Paul), Blows, F. (Fiona), Dunning, A.M. (Alison), Ghoussaini, M. (Maya), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Jones, M. (Marta), Schoemaker, M. (Minouk), Easton, D.F. (Douglas), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Peto, J. (Julian), and Santos Silva, I. (Isabel) dos
Abstract: Background: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). Methods: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). Results: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P =2.01 × 10-29] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (Phet) = 1.3 × 10-143], but no evidence of ethnic differences in per allele OR (Phet = 0.43). rs865686 was associated with estrogen receptor-positive (ER+) disease (per G-allele OR, 0.89; 95% CI, 0.86-0.91; P = 3.13 × 10-22) but less strongly, if at all, with ER-negative (ER+) disease (OR, 0.98; 95% CI, 0.94-1.02; P = 0.26; Phet = 1.16 × 10-6), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of theG
Published: 2012
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205. CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

Author: Weischer, M. (Maren), Nordestgaard, B.G. (Børge), Pharoah, P.D.P. (Paul), Bolla, M.K. (Manjeet), Nevanlinna, H. (Heli), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Hopper, J.L. (John), Hall, P. (Per), Andrulis, I.L. (Irene), Devilee, P. (Peter), Fasching, P.A. (Peter), Anton-Culver, H. (Hoda), Lambrechts, D. (Diether), Hooning, M.J. (Maartje), Cox, A. (Angela), Giles, G.G. (Graham), Burwinkel, B. (Barbara), Lindblom, A. (Annika), Couch, F.J. (Fergus), Mannermaa, A. (Arto), Alnæs, G.G. (Grethe), John, E.M. (Esther), Dörk, T. (Thilo), Flyger, H. (Henrik), Dunning, A.M. (Alison), Wang, Q. (Qing), Muranen, T.A. (Taru), Hien, R.R. (Richard) van, Figueroa, J.D. (Jonine), Southey, M.C. (Melissa), Czene, K. (Kamila), Knight, J.A. (Julia), Tollenaar, R.A.E.M. (Rob), Beckmann, M.W. (Matthias), Ziogas, A. (Argyrios), Christiaens, M.R. (Marie Rose), Collée, J.M. (Margriet), Reed, M.W.R. (Malcolm), Severi, G. (Gianluca), Marme, F. (Federick), Margolin, S. (Sara), Olson, J.E. (Janet), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Miron, A. (Alexander), Bogdanova, N.V. (Natalia), Shah, M. (Mitul), Blomqvist, C. (Carl), Broeks, A. (Annegien), Sherman, M.E. (Mark), Phillips, K. (Kelly), Li, J. (Jingmei), Liu, J. (Jianjun), Glendon, G. (Gord), Seynaeve, C.M. (Caroline), Ekici, A.B. (Arif), Leunen, K., Kriege, M. (Mieke), Cross, S.S. (Simon), Baglietto, L. (Laura), Sohn, C. (Christof), Wang, X. (Xing), Kataja, V. (Vesa), Børresen-Dale, A.L. (Anne Lise), Meyer, A. (Andreas), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), Bojesen, S.E. (Stig), Weischer, M. (Maren), Nordestgaard, B.G. (Børge), Pharoah, P.D.P. (Paul), Bolla, M.K. (Manjeet), Nevanlinna, H. (Heli), Veer, L.J. (Laura) van 't, García-Closas, M. (Montserrat), Hopper, J.L. (John), Hall, P. (Per), Andrulis, I.L. (Irene), Devilee, P. (Peter), Fasching, P.A. (Peter), Anton-Culver, H. (Hoda), Lambrechts, D. (Diether), Hooning, M.J. (Maartje), Cox, A. (Angela), Giles, G.G. (Graham), Burwinkel, B. (Barbara), Lindblom, A. (Annika), Couch, F.J. (Fergus), Mannermaa, A. (Arto), Alnæs, G.G. (Grethe), John, E.M. (Esther), Dörk, T. (Thilo), Flyger, H. (Henrik), Dunning, A.M. (Alison), Wang, Q. (Qing), Muranen, T.A. (Taru), Hien, R.R. (Richard) van, Figueroa, J.D. (Jonine), Southey, M.C. (Melissa), Czene, K. (Kamila), Knight, J.A. (Julia), Tollenaar, R.A.E.M. (Rob), Beckmann, M.W. (Matthias), Ziogas, A. (Argyrios), Christiaens, M.R. (Marie Rose), Collée, J.M. (Margriet), Reed, M.W.R. (Malcolm), Severi, G. (Gianluca), Marme, F. (Federick), Margolin, S. (Sara), Olson, J.E. (Janet), Kosma, V-M. (Veli-Matti), Kristensen, V. (Vessela), Miron, A. (Alexander), Bogdanova, N.V. (Natalia), Shah, M. (Mitul), Blomqvist, C. (Carl), Broeks, A. (Annegien), Sherman, M.E. (Mark), Phillips, K. (Kelly), Li, J. (Jingmei), Liu, J. (Jianjun), Glendon, G. (Gord), Seynaeve, C.M. (Caroline), Ekici, A.B. (Arif), Leunen, K., Kriege, M. (Mieke), Cross, S.S. (Simon), Baglietto, L. (Laura), Sohn, C. (Christof), Wang, X. (Xing), Kataja, V. (Vesa), Børresen-Dale, A.L. (Anne Lise), Meyer, A. (Andreas), Easton, D.F. (Douglas), Schmidt, M.K. (Marjanka), and Bojesen, S.E. (Stig)
Abstract: Purpose: We tested the hypotheses that CHEK2*1100delC heterozygosity is associated with increased risk of early death, breast cancer-specific death, and risk of a second breast cancer in women with a first breast cancer. Patients and Methods: From 22 studies participating in the Breast Cancer Association Consortium, 25,571 white women with invasive breast cancer were genotyped for CHEK2*1100delC and observed for up to 20 years (median, 6.6 years). We examined risk of early death and breast cancer-specific death by estrogen receptor status and risk of a second breast cancer after a first breast cancer in prospective studies. Results: CHEK2*1100delC heterozygosity was found in 459 patients (1.8%). In women with estrogen receptor-positive breast cancer, m
Published: 2012
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206. 19p13.1 Is a triple-negative-specific breast cancer susceptibility locus

Author: Stevens, K. (Kristen), Fredericksen, Z. (Zachary), Vachon, C. (Celine), Wang, X. (Xing), Margolin, S. (Sara), Lindblom, A. (Annika), Nevanlinna, H. (Heli), Greco, D. (Dario), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Sinn, H.-P. (Hans-Peter), Wang-Gohrke, S. (Shan), Nickels, S. (Stefan), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Bartram, C.R. (Claus), Schott, S. (Sarah), Engel, C. (Christoph), Godwin, A.K. (Andrew), Weaver, J. (JoEllen), Pathak, S.S., Sharma, P. (Pankaj), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Stegmaier, C. (Christa), Miron, P. (Penelope), Yannoukakos, D. (Drakoulis), Stavropoulou, A. (Alexandra), Fountzilas, G. (George), Gogas, H. (Helen), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, A. (Annie), Milne, R.L. (Roger), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Cordina-Duverger, E. (Emilie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Peto, J. (Julian), Johnson, N. (Nichola), Fletcher, O. (Olivia), Santos Silva, I. (Isabel) dos, Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hartmann, A. (Arndt), Ekici, A.B. (Arif), Lophatananon, A. (Artitaya), Muir, K.R. (Kenneth), Puttawibul, P. (Puttisak), Wiangnon, S. (Surapon), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Braaf, L.M. (Linde), Rosenberg, E.H. (Efraim), Hopper, J.L. (John), Apicella, C. (Carmel), Park, D.J. (Daniel), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Nicholas, O. (Orr), Schoemaker, M. (Minouk), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hsiung, C.-N. (Chia-Ni), Hamann, U. (Ute), Dünnebier, T. (Thomas), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Hall, P. (Per), Czene, K. (Kamila), Ambrosone, C.B. (Christine), Ademuyiwa, F. (Foluso), Hwang, H. (Helena), Eccles, D. (Diana), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Sherman, M.E. (Mark), Lissowska, J. (Jolanta), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), John, E.M. (Esther), Miron, A. (Alexander), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Brøresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Kosel, M. (Matthew), Pankratz, V.S. (Shane), Slager, S. (Susan), Olson, J.E. (Janet), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Lambrechts, D. (Diether), Hatse, S. (Sigrid), Dieudonné, A.-S. (Anne-Sophie), Christiaens, M.R. (Marie Rose), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Soini, Y. (Ylermi), Easton, D.F. (Douglas), Couch, F.J. (Fergus), Stevens, K. (Kristen), Fredericksen, Z. (Zachary), Vachon, C. (Celine), Wang, X. (Xing), Margolin, S. (Sara), Lindblom, A. (Annika), Nevanlinna, H. (Heli), Greco, D. (Dario), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Chang-Claude, J. (Jenny), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Sinn, H.-P. (Hans-Peter), Wang-Gohrke, S. (Shan), Nickels, S. (Stefan), Brauch, H. (Hiltrud), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Schmutzler, R.K. (Rita), Meindl, A. (Alfons), Bartram, C.R. (Claus), Schott, S. (Sarah), Engel, C. (Christoph), Godwin, A.K. (Andrew), Weaver, J. (JoEllen), Pathak, S.S., Sharma, P. (Pankaj), Brenner, H. (Hermann), Müller, H. (Heiko), Arndt, V. (Volker), Stegmaier, C. (Christa), Miron, P. (Penelope), Yannoukakos, D. (Drakoulis), Stavropoulou, A. (Alexandra), Fountzilas, G. (George), Gogas, H. (Helen), Swann, R. (Ruth), Dwek, M. (Miriam), Perkins, A. (Annie), Milne, R.L. (Roger), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Bojesen, S.E. (Stig), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Cordina-Duverger, E. (Emilie), Burwinkel, B. (Barbara), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Peto, J. (Julian), Johnson, N. (Nichola), Fletcher, O. (Olivia), Santos Silva, I. (Isabel) dos, Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Hartmann, A. (Arndt), Ekici, A.B. (Arif), Lophatananon, A. (Artitaya), Muir, K.R. (Kenneth), Puttawibul, P. (Puttisak), Wiangnon, S. (Surapon), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Braaf, L.M. (Linde), Rosenberg, E.H. (Efraim), Hopper, J.L. (John), Apicella, C. (Carmel), Park, D.J. (Daniel), Southey, M.C. (Melissa), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Nicholas, O. (Orr), Schoemaker, M. (Minouk), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Dur, C.C. (Christina Clarke), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hsiung, C.-N. (Chia-Ni), Hamann, U. (Ute), Dünnebier, T. (Thomas), Rud̈iger, T. (Thomas), Ulmer, H.U. (Hans), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Hall, P. (Per), Czene, K. (Kamila), Ambrosone, C.B. (Christine), Ademuyiwa, F. (Foluso), Hwang, H. (Helena), Eccles, D. (Diana), García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Sherman, M.E. (Mark), Lissowska, J. (Jolanta), Devilee, P. (Peter), Seynaeve, C.M. (Caroline), Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), John, E.M. (Esther), Miron, A. (Alexander), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Brøresen-Dale, A.-L. (Anne-Lise), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Kosel, M. (Matthew), Pankratz, V.S. (Shane), Slager, S. (Susan), Olson, J.E. (Janet), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Lambrechts, D. (Diether), Hatse, S. (Sigrid), Dieudonné, A.-S. (Anne-Sophie), Christiaens, M.R. (Marie Rose), Chenevix-Trench, G. (Georgia), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Soini, Y. (Ylermi), Easton, D.F. (Douglas), and Couch, F.J. (Fergus)
Abstract: The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with the risk of ovarian cancer. Here, we investigated 19p13.1 variation and risk of breast cancer subtypes, defined by estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor-2 (HER2) status, using 48,869 breast cancer cases and 49,787 controls from the Breast Cancer Association Consortium (BCAC). Variants from 19p13.1 were not associated with breast cancer overall or with ER-positive breast cancer but were significantly associated with ER-negative breast cancer risk [rs8170 OR, 1.10; 95% confidence interval (CI), 1.05-1.15; P = 3.49 × 10 -5] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13-1.31; P = 2.22 × 10 -7). However, rs8170 was no longer associated with ERnegative breast cancer risk when triple-negative cases were excluded (OR, 0.98; 95% CI, 0.89-1.07; P = 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N = 3,566) identified a genome-wide significant association between rs8170 and triple-negative breast cancer risk (OR, 1.25; 95% CI, 1.18-1.33; P=3.31×10 -13]. Thus, 19p13.1 is the first triple-negative- specific breast cancer risk locus and the first locus specific to a histologic subtype defined by ER, PR, and HER2 to be identified. These findings provide convincing evidence that genetic susceptibility to breast cancer varies by tumor subtype and that triple-negative tumors and other subtypes likely arise through distinct etiologic pathways.
Published: 2012
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207. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Author: Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), and Dunning, A.M. (Alison)
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effec
Published: 2012
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208. Breast cancer risk and 6q22.33: Combined results from breast cancer association consortium and consortium of investigators on modifiers of brca1/2

Author: Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), Chu, C. (Carol), Kircchoff, T. (Tomas), Offit, K. (Kenneth), Gaudet, M.M. (Mia), Pharoah, P.D.P. (Paul), Easton, D.F. (Douglas), Antoniou, A.C. (Antonis), McGuffog, L. (Lesley), Humphreys, M.K. (Manjeet), Dunning, A.M. (Alison), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Couch, F.J. (Fergus), Olson, J.E. (Janet), Vachon, C. (Celine), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Burwinkel, B. (Barbara), Meindl, A. (Alfons), Brauch, H. (Hiltrud), Justenhoven, C. (Christina), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Fischer, H.-P., Brüning, T. (Thomas), Pesch, B. (Beate), Harth, V. (Volker), Rabstein, S. (Sylvia), Broeks, A. (Annegien), Schmidt, M.K. (Marjanka), Veer, L.J. (Laura) van 't, Braaf, L.M. (Linde), Johnson, N. (Nichola), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Peto, J. (Julian), Turnbull, C. (Clare), Seal, S. (Sheila), Renwick, A. (Anthony), Rahman, N. (Nazneen), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hsiung, C.-N. (Chia-Ni), Shen, C-Y. (Chen-Yang), Southey, M.C. (Melissa), Hopper, J.L. (John), Hammet, F. (Fleur), Dorpe, T. (Thijs) van, Dieudonné, A.-S. (Anne-Sophie), Hatse, S. (Sigrid), Lambrechts, D. (Diether), Andrulis, I.L. (Irene), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Rogov, J.I. (Juri), Prokofieva, D. (Daria), Bermisheva, M. (Marina), Khusnutdinova, E.K. (Elza), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Hooning, M.J. (Maartje), Devilee, P. (Peter), Margolin, S. (Sara), Lindblom, A. (Annika), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Severi, G. (Gianluca), Baglietto, L. (Laura), Giles, G.G. (Graham), Chenevix-Trench, G. (Georgia), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Holland, H. (Helene), Healey, S. (Sue), Wang-Gohrke, S. (Shan), Chang-Claude, J. (Jenny), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kauppinen, J. (Jaana), Kataja, V. (Vesa), Agnarsson, B.A. (Bjarni), Caligo, M.A. (Maria), Godwin, A.K. (Andrew), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Fredericksen, Z. (Zachary), Lindor, N.M. (Noralane), Nathanson, K.L. (Katherine), Domchek, S.M. (Susan), Loman, N. (Niklas), Karlsson, P. (Per), Askmalm, M.S. (Marie), Melin, B. (Beatrice), Wachenfeldt, A. (Anna) von, Hogervorst, F.B.L. (Frans), Verheus, M. (Martijn), Rookus, M.A. (Matti), Seynaeve, C.M. (Caroline), Oldenburg, R.A. (Rogier), Ligtenberg, M.J. (Marjolijn), Ausems, M.G.E.M. (Margreet), Aalfs, C.M. (Cora), Gille, H.J.P. (Hans), Wijnen, J.T. (Juul), Gómez García, E.B. (Encarna), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), Luccarini, C. (Craig), Pichert, G. (Gabriella), Davidson, R. (Rosemarie), Eccles, D. (Diana), Ong, K.-R. (Kai-Ren), Cook, J. (Jackie), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Gold, B. (Bert), Wang, X. (Xianshu), and Chu, C. (Carol)
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012
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209. Genome-wide association analysis identifies three new breast cancer susceptibility loci

Author: Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M.K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A.G., Rivadeneira, F., Netherlands Collaborative Group on Hereditary, B., Ovarian, C., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J.L., Apicella, C., Park, D.J., Southey, M., Hunter, D.J., Chanock, S.J., Broeks, A., Verhoef, S., Hogervorst, F.B., Fasching, P.A., Lux, M.P., Beckmann, M.W., Ekici, A.B., Sawyer, E., Tomlinson, I., Kerin, M., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Alonso, M.R., Gonzalez-Neira, A., Benitez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C.C., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Familial Breast Cancer, S., Justenhoven, C., Brauch, H., Bruning, T., Gene Environment Interaction of Breast Cancer in Germany, N., Wang-Gohrke, S., Eilber, U., Dork, T., Schurmann, P., Bremer, M., Hillemanns, P., Bogdanova, N.V., Antonenkova, N.N., Rogov, Y.I., Karstens, J.H., Bermisheva, M., Prokofieva, D., Ligtenberg, M.J., et al., Ghoussaini, M., Fletcher, O., Michailidou, K., Turnbull, C., Schmidt, M.K., Dicks, E., Dennis, J., Wang, Q., Humphreys, M.K., Luccarini, C., Baynes, C., Conroy, D., Maranian, M., Ahmed, S., Driver, K., Johnson, N., Orr, N., dos Santos Silva, I., Waisfisz, Q., Meijers-Heijboer, H., Uitterlinden, A.G., Rivadeneira, F., Netherlands Collaborative Group on Hereditary, B., Ovarian, C., Hall, P., Czene, K., Irwanto, A., Liu, J., Nevanlinna, H., Aittomaki, K., Blomqvist, C., Meindl, A., Schmutzler, R.K., Muller-Myhsok, B., Lichtner, P., Chang-Claude, J., Hein, R., Nickels, S., Flesch-Janys, D., Tsimiklis, H., Makalic, E., Schmidt, D., Bui, M., Hopper, J.L., Apicella, C., Park, D.J., Southey, M., Hunter, D.J., Chanock, S.J., Broeks, A., Verhoef, S., Hogervorst, F.B., Fasching, P.A., Lux, M.P., Beckmann, M.W., Ekici, A.B., Sawyer, E., Tomlinson, I., Kerin, M., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Guenel, P., Truong, T., Cordina-Duverger, E., Menegaux, F., Bojesen, S.E., Nordestgaard, B.G., Nielsen, S.F., Flyger, H., Milne, R.L., Alonso, M.R., Gonzalez-Neira, A., Benitez, J., Anton-Culver, H., Ziogas, A., Bernstein, L., Dur, C.C., Brenner, H., Muller, H., Arndt, V., Stegmaier, C., Familial Breast Cancer, S., Justenhoven, C., Brauch, H., Bruning, T., Gene Environment Interaction of Breast Cancer in Germany, N., Wang-Gohrke, S., Eilber, U., Dork, T., Schurmann, P., Bremer, M., Hillemanns, P., Bogdanova, N.V., Antonenkova, N.N., Rogov, Y.I., Karstens, J.H., Bermisheva, M., Prokofieva, D., Ligtenberg, M.J., and et al.
Abstract: Item does not contain fulltext, Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for approximately 8% of the heritability of the disease. We attempted to replicate 72 promising associations from two independent genome-wide association studies (GWAS) in approximately 70,000 cases and approximately 68,000 controls from 41 case-control studies and 9 breast cancer GWAS. We identified three new breast cancer risk loci at 12p11 (rs10771399; P = 2.7 x 10(-35)), 12q24 (rs1292011; P = 4.3 x 10(-19)) and 21q21 (rs2823093; P = 1.1 x 10(-12)). rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) has a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, and NRIP1 (21q21) encodes an ER cofactor and has a role in the regulation of breast cancer cell growth.
Published: 2012

210. Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Author: Chan, KYK, Hein, R, Maranian, M, Hopper, JL, Kapuscinski, MK, Southey, MC, Park, DJ, Schmidt, MK, Broeks, A, Hogervorst, FBL, Bueno-de-Mesquit, HB, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, IDS, Peto, J, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marmee, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Cordina-Duverger, E, Menegaux, F, Truong, T, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, RL, Arias Perez, JI, Pilar Zamora, M, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Clarke, CA, Brenner, H, Mueller, H, Arndt, V, Stegmaier, C, Rahman, N, Seal, S, Turnbull, C, Renwick, A, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Brauch, H, Hamann, U, Ko, Y-D, Wang-Gohrke, S, Doerk, T, Schuermann, P, Karstens, JH, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Zalutsky, IV, Antonenkova, NN, Bermisheva, M, Prokovieva, D, Farahtdinova, A, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J, Chen, X, Beesley, J, Lambrechts, D, Zhao, H, Neven, P, Wildiers, H, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, FJ, Olson, JE, Wang, X, Fredericksen, Z, Giles, GG, Baglietto, L, McLean, CA, Severi, G, Offit, K, Robson, M, Gaudet, MM, Vijai, J, Alnaes, GG, Kristensen, V, Borresen-Dale, A-L, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Figueroa, JD, Garcia-Closas, M, Lissowska, J, Sherman, ME, Hooning, M, Martens, JWM, Seynaeve, C, Collee, M, Hall, P, Humpreys, K, Czene, K, Liu, J, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Ahmed, S, Ghoussaini, M, Pharoah, PDP, Kang, D, Yoo, K-Y, Noh, D-Y, Jakubowska, A, Jaworska, K, Durda, K, Zlowocka, E, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Shen, C-Y, Yu, J-C, Hsu, H-M, Hou, M-F, Orr, N, Schoemaker, M, Ashworth, A, Swerdlow, A, Trentham-Dietz, A, Newcomb, PA, Titus, L, Egan, KM, Chenevix-Trench, G, Antoniou, AC, Humphreys, MK, Morrison, J, Chang-Claude, J, Easton, DF, Dunning, AM, Chan, KYK, Hein, R, Maranian, M, Hopper, JL, Kapuscinski, MK, Southey, MC, Park, DJ, Schmidt, MK, Broeks, A, Hogervorst, FBL, Bueno-de-Mesquit, HB, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, IDS, Peto, J, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marmee, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Cordina-Duverger, E, Menegaux, F, Truong, T, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, RL, Arias Perez, JI, Pilar Zamora, M, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Clarke, CA, Brenner, H, Mueller, H, Arndt, V, Stegmaier, C, Rahman, N, Seal, S, Turnbull, C, Renwick, A, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Brauch, H, Hamann, U, Ko, Y-D, Wang-Gohrke, S, Doerk, T, Schuermann, P, Karstens, JH, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Zalutsky, IV, Antonenkova, NN, Bermisheva, M, Prokovieva, D, Farahtdinova, A, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J, Chen, X, Beesley, J, Lambrechts, D, Zhao, H, Neven, P, Wildiers, H, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, FJ, Olson, JE, Wang, X, Fredericksen, Z, Giles, GG, Baglietto, L, McLean, CA, Severi, G, Offit, K, Robson, M, Gaudet, MM, Vijai, J, Alnaes, GG, Kristensen, V, Borresen-Dale, A-L, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Figueroa, JD, Garcia-Closas, M, Lissowska, J, Sherman, ME, Hooning, M, Martens, JWM, Seynaeve, C, Collee, M, Hall, P, Humpreys, K, Czene, K, Liu, J, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Ahmed, S, Ghoussaini, M, Pharoah, PDP, Kang, D, Yoo, K-Y, Noh, D-Y, Jakubowska, A, Jaworska, K, Durda, K, Zlowocka, E, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Shen, C-Y, Yu, J-C, Hsu, H-M, Hou, M-F, Orr, N, Schoemaker, M, Ashworth, A, Swerdlow, A, Trentham-Dietz, A, Newcomb, PA, Titus, L, Egan, KM, Chenevix-Trench, G, Antoniou, AC, Humphreys, MK, Morrison, J, Chang-Claude, J, Easton, DF, and Dunning, AM
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effects were independent. Both SNPs are significantly associated with breast cancer risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G) = 1.36 (95% CI 1.26-1.48), p = 7.6 × 10(-14) in Asians and 1.09 (95% CI 1.07-1.11), p = 6.8 × 10(-18) in Europeans. rs12662670: OR (G/T) = 1.29 (95% CI 1.19-1.41), p = 1.2 × 10(-9) in Asians and 1.12 (95% CI 1.08-1.17), p = 3.8 × 10(-9) in Europeans]. SNP rs2046210 is associated with a significantly greater risk of ER- than ER+ tumours in Europeans [OR (ER-) = 1.20 (95% CI 1.15-1.25), p = 1.8 × 10(-17) versus OR (ER+) = 1.07 (95% CI 1.04-1.1), p = 1.3 × 10(-7), p(heterogeneity) = 5.1 × 10(-6)]. In these Asian studies, by contrast, there is no clear evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater risk of
Published: 2012

211. 9q31.2-rs865686 as a Susceptibility Locus for Estrogen Receptor-Positive Breast Cancer: Evidence from the Breast Cancer Association Consortium

Author: Warren, H, Dudbridge, F, Fletcher, O, Orr, N, Johnson, N, Hopper, JL, Apicella, C, Southey, MC, Mahmoodi, M, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, LM, Muir, KR, Lophatananon, A, Chaiwerawattana, A, Wiangnon, S, Fasching, PA, Beckmann, MW, Ekici, AB, Schulz-Wendtland, R, Sawyer, EJ, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guenel, P, Therese, T, Laurent-Puig, P, Mulot, C, Bojesen, SE, Nielsen, SF, Flyger, H, Nordestgaard, BG, Milne, RL, Benitez, J, Arias-Perez, J-I, Pilar Zamora, M, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Mueller, H, Arndt, V, Langheinz, A, Meindl, A, Golatta, M, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Bruening, T, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Doerk, T, Schuermann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, Y, Bermisheva, M, Prokofyeva, D, Zinnatullina, G, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, V-M, Hartikainen, JM, Kataja, V, Chenevix-Trench, G, Beesley, J, Chen, X, Lambrechts, D, Smeets, A, Paridaens, R, Weltens, C, Flesch-Janys, D, Buck, K, Behrens, S, Peterlongo, P, Bernard, L, Manoukian, S, Radice, P, Couch, FJ, Vachon, C, Wang, X, Olson, J, Giles, G, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Mulligan, AM, Weerasooriya, N, Devilee, P, Tollenaar, RAEM, Martens, JWM, Seynaeve, CM, Hooning, MJ, Hollestelle, A, Jager, A, Tilanus-Linthorst, MMA, Hall, P, Czene, K, Liu, J, Li, J, Cox, A, Cross, SS, Brock, IW, Reed, MWR, Pharoah, P, Blows, FM, Dunning, AM, Ghous-saini, M, Ashworth, A, Swerdlow, A, Jones, M, Schoemaker, M, Easton, DF, Humphreys, M, Wang, Q, Peto, J, dos-Santos-Silva, I, Warren, H, Dudbridge, F, Fletcher, O, Orr, N, Johnson, N, Hopper, JL, Apicella, C, Southey, MC, Mahmoodi, M, Schmidt, MK, Broeks, A, Cornelissen, S, Braaf, LM, Muir, KR, Lophatananon, A, Chaiwerawattana, A, Wiangnon, S, Fasching, PA, Beckmann, MW, Ekici, AB, Schulz-Wendtland, R, Sawyer, EJ, Tomlinson, I, Kerin, M, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guenel, P, Therese, T, Laurent-Puig, P, Mulot, C, Bojesen, SE, Nielsen, SF, Flyger, H, Nordestgaard, BG, Milne, RL, Benitez, J, Arias-Perez, J-I, Pilar Zamora, M, Anton-Culver, H, Ziogas, A, Bernstein, L, Dur, CC, Brenner, H, Mueller, H, Arndt, V, Langheinz, A, Meindl, A, Golatta, M, Bartram, CR, Schmutzler, RK, Brauch, H, Justenhoven, C, Bruening, T, Chang-Claude, J, Wang-Gohrke, S, Eilber, U, Doerk, T, Schuermann, P, Bremer, M, Hillemanns, P, Nevanlinna, H, Muranen, TA, Aittomaki, K, Blomqvist, C, Bogdanova, N, Antonenkova, N, Rogov, Y, Bermisheva, M, Prokofyeva, D, Zinnatullina, G, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kosma, V-M, Hartikainen, JM, Kataja, V, Chenevix-Trench, G, Beesley, J, Chen, X, Lambrechts, D, Smeets, A, Paridaens, R, Weltens, C, Flesch-Janys, D, Buck, K, Behrens, S, Peterlongo, P, Bernard, L, Manoukian, S, Radice, P, Couch, FJ, Vachon, C, Wang, X, Olson, J, Giles, G, Baglietto, L, McLean, CA, Severi, G, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Mulligan, AM, Weerasooriya, N, Devilee, P, Tollenaar, RAEM, Martens, JWM, Seynaeve, CM, Hooning, MJ, Hollestelle, A, Jager, A, Tilanus-Linthorst, MMA, Hall, P, Czene, K, Liu, J, Li, J, Cox, A, Cross, SS, Brock, IW, Reed, MWR, Pharoah, P, Blows, FM, Dunning, AM, Ghous-saini, M, Ashworth, A, Swerdlow, A, Jones, M, Schoemaker, M, Easton, DF, Humphreys, M, Wang, Q, Peto, J, and dos-Santos-Silva, I
Abstract: BACKGROUND: Our recent genome-wide association study identified a novel breast cancer susceptibility locus at 9q31.2 (rs865686). METHODS: To further investigate the rs865686-breast cancer association, we conducted a replication study within the Breast Cancer Association Consortium, which comprises 37 case-control studies (48,394 cases, 50,836 controls). RESULTS: This replication study provides additional strong evidence of an inverse association between rs865686 and breast cancer risk [study-adjusted per G-allele OR, 0.90; 95% confidence interval (CI), 0.88; 0.91, P = 2.01 × 10(-29)] among women of European ancestry. There were ethnic differences in the estimated minor (G)-allele frequency among controls [0.09, 0.30, and 0.38 among, respectively, Asians, Eastern Europeans, and other Europeans; P for heterogeneity (P(het)) = 1.3 × 10(-143)], but no evidence of ethnic differences in per allele OR (P(het) = 0.43). rs865686 was associated with estrogen receptor-positive (ER(+)) disease (per G-allele OR, 0.89; 95% CI, 0.86-0.91; P = 3.13 × 10(-22)) but less strongly, if at all, with ER-negative (ER(-)) disease (OR, 0.98; 95% CI, 0.94-1.02; P = 0.26; P(het) = 1.16 × 10(-6)), with no evidence of independent heterogeneity by progesterone receptor or HER2 status. The strength of the breast cancer association decreased with increasing age at diagnosis, with case-only analysis showing a trend in the number of copies of the G allele with increasing age at diagnosis (P for linear trend = 0.0095), but only among women with ER(+) tumors. CONCLUSIONS: This study is the first to show that rs865686 is a susceptibility marker for ER(+) breast cancer. IMPACT: The findings further support the view that genetic susceptibility varies according to tumor subtype.
Published: 2012

212. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Prokunina-Olsson, L, Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, K-Y, Noh, D-Y, Ahn, S-H, Dork, T, Schuermann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, X, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, Y-D, Broeks, A, Schmidt, MK, Van 't Veer, LJ, Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, P-E, Yu, J-C, Hsiung, C-N, Shen, C-Y, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, A-S, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, MJ, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Ignacio Arias, J, Pilar Zamora, M, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, X, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, V-M, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, C, Oldenburg, RA, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, K-R, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G, Easton, DF, Prokunina-Olsson, L, Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, K-Y, Noh, D-Y, Ahn, S-H, Dork, T, Schuermann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, X, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, Y-D, Broeks, A, Schmidt, MK, Van 't Veer, LJ, Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, P-E, Yu, J-C, Hsiung, C-N, Shen, C-Y, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, A-S, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, MJ, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Ignacio Arias, J, Pilar Zamora, M, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, X, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, V-M, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, C, Oldenburg, RA, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, K-R, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G, and Easton, DF
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I(2) = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95%CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012

213. Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

Author: Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, XS, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, YD, Broeks, A, Schmidt, Marjanka K, van 't Veer, LJ (Laura), Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, PE, Yu, JC, Hsiung, CN, Shen, CY, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, AS, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, Maartje, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Arias, JI, Zamora, MP, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, XQ, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, VM, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, Caroline, Oldenburg, Rogier, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, KR, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G, Easton, DF, Kirchhoff, T, Gaudet, MM, Antoniou, AC, McGuffog, L, Humphreys, MK, Dunning, AM, Bojesen, SE, Nordestgaard, BG, Flyger, H, Kang, D, Yoo, KY, Noh, DY, Ahn, SH, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Couch, FJ, Olson, J, Vachon, C, Wang, XS, Cox, A, Brock, I, Elliott, G, Reed, MWR, Burwinkel, B, Meindl, A, Brauch, H, Hamann, U, Ko, YD, Broeks, A, Schmidt, Marjanka K, van 't Veer, LJ (Laura), Braaf, LM, Johnson, N, Fletcher, O, Gibson, L, Peto, J, Turnbull, C, Seal, S, Renwick, A, Rahman, N, Wu, PE, Yu, JC, Hsiung, CN, Shen, CY, Southey, MC, Hopper, JL, Hammet, F, Van Dorpe, T, Dieudonne, AS, Hatse, S, Lambrechts, D, Andrulis, IL, Bogdanova, N, Antonenkova, N, Rogov, JI, Prokofieva, D, Bermisheva, M, Khusnutdinova, E, van Asperen, CJ, Tollenaar, RAEM, Hooning, Maartje, Devilee, P, Margolin, S, Lindblom, A, Milne, RL, Arias, JI, Zamora, MP, Benitez, J, Severi, G, Baglietto, L, Giles, GG, Spurdle, AB, Beesley, J, Chen, XQ, Holland, H, Healey, S, Wang-Gohrke, S, Chang-Claude, J, Mannermaa, A, Kosma, VM, Kauppinen, J, Kataja, V, Agnarsson, BA, Caligo, MA, Godwin, AK, Nevanlinna, H, Heikkinen, T, Fredericksen, Z, Lindor, N, Nathanson, KL, Domchek, SM, Loman, N, Karlsson, P, Askmalm, MS, Melin, B, von Wachenfeldt, A, Hogervorst, FBL, Verheus, M, Rookus, MA, Seynaeve, Caroline, Oldenburg, Rogier, Ligtenberg, MJ, Ausems, MGEM, Aalfs, CM, Gille, HJP, Wijnen, JT, Garcia, EBG, Peock, S, Cook, M, Oliver, CT, Frost, D, Luccarini, C, Pichert, G, Davidson, R, Chu, C, Eccles, D, Ong, KR, Cook, J, Douglas, F, Hodgson, S, Evans, DG, Eeles, R, Gold, B, Pharoah, PDP, Offit, K, Chenevix-Trench, G, and Easton, DF
Abstract: Recently, a locus on chromosome 6q22.33 (rs2180341) was reported to be associated with increased breast cancer risk in the Ashkenazi Jewish (AJ) population, and this association was also observed in populations of non-AJ European ancestry. In the present study, we performed a large replication analysis of rs2180341 using data from 31,428 invasive breast cancer cases and 34,700 controls collected from 25 studies in the Breast Cancer Association Consortium (BCAC). In addition, we evaluated whether rs2180341 modifies breast cancer risk in 3,361 BRCA1 and 2,020 BRCA2 carriers from 11 centers in the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Based on the BCAC data from women of European ancestry, we found evidence for a weak association with breast cancer risk for rs2180341 (per-allele odds ratio (OR) = 1.03, 95% CI 1.00-1.06, p = 0.023). There was evidence for heterogeneity in the ORs among studies (I-2 = 49.3%; p = <0.004). In CIMBA, we observed an inverse association with the minor allele of rs2180341 and breast cancer risk in BRCA1 mutation carriers (per-allele OR = 0.89, 95% CI 0.80-1.00, p = 0.048), indicating a potential protective effect of this allele. These data suggest that that 6q22.33 confers a weak effect on breast cancer risk.
Published: 2012

214. Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

Author: Hein, R, Maranian, M, Hopper, JL, Kapuscinski, MK, Southey, MC, Park, DJ, Schmidt, Marjanka K, Broeks, A, Hogervorst, FBL, Bueno-de-Mesquit, HB, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, ID, Peto, J, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marmee, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Cordina-Duverger, E, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, RL, Perez, JIA, Zamora, MP, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Clarke, CA, Brenner, H, Muller, H, Arndt, V, Stegmaier, C, Rahman, N, Seal, S, Turnbull, C, Renwick, A, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Brauch, H, Hamann, U, Ko, YD, Wang-Gohrke, S, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Zalutsky, IV, Antonenkova, NN, Bermisheva, M, Prokovieva, D, Farahtdinova, A, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, J, Chen, XQ, Beesley, J, Lambrechts, D, Zhao, H (Hui), Neven, P, Wildiers, H, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Giles, GG, Baglietto, L, McLean, CA, Severi, G, Offit, K, Robson, M, Gaudet, MM, Vijai, J, Alnaes, GG, Kristensen, V, Borresen-Dale, AL, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Figueroa, JD, Garcia-Closas, M, Lissowska, J, Sherman, ME, Hooning, M, Martens, John, Seynaeve, Caroline, Collee, M, Hall, P, Humpreys, K, Czene, K, Liu, JJ, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Ahmed, S (Shahana), Ghoussaini, M, Pharoah, PDP, Kang, D, Yoo, KY, Noh, DY, Jakubowska, A, Jaworska, K, Durda, K, Zlowocka, E, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Yu, JC, Hsu, HM, Hou, MF, Orr, N, Schoemaker, M, Ashworth, A, Swerdlow, A, Trentham-Dietz, A, Newcomb, PA, Titus, L, Egan, KM, Chenevix-Trench, G, Antoniou, AC, Humphreys, MK, Morrison, J, Chang-Claude, J, Easton, DF, Dunning, AM, Truong, T, Hein, R, Maranian, M, Hopper, JL, Kapuscinski, MK, Southey, MC, Park, DJ, Schmidt, Marjanka K, Broeks, A, Hogervorst, FBL, Bueno-de-Mesquit, HB, Muir, KR, Lophatananon, A, Rattanamongkongul, S, Puttawibul, P, Fasching, PA, Hein, A, Ekici, AB, Beckmann, MW, Fletcher, O, Johnson, N, Silva, ID, Peto, J, Sawyer, E, Tomlinson, I, Kerin, M, Miller, N, Marmee, F, Schneeweiss, A, Sohn, C, Burwinkel, B, Guenel, P, Cordina-Duverger, E, Menegaux, F, Bojesen, SE, Nordestgaard, BG, Flyger, H, Milne, RL, Perez, JIA, Zamora, MP, Benitez, J, Anton-Culver, H, Ziogas, A, Bernstein, L, Clarke, CA, Brenner, H, Muller, H, Arndt, V, Stegmaier, C, Rahman, N, Seal, S, Turnbull, C, Renwick, A, Meindl, A, Schott, S, Bartram, CR, Schmutzler, RK, Brauch, H, Hamann, U, Ko, YD, Wang-Gohrke, S, Dork, T, Schurmann, P, Karstens, JH, Hillemanns, P, Nevanlinna, H, Heikkinen, T, Aittomaki, K, Blomqvist, C, Bogdanova, NV, Zalutsky, IV, Antonenkova, NN, Bermisheva, M, Prokovieva, D, Farahtdinova, A, Khusnutdinova, E, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, J, Chen, XQ, Beesley, J, Lambrechts, D, Zhao, H (Hui), Neven, P, Wildiers, H, Nickels, S, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Barile, M, Couch, FJ, Olson, JE, Wang, XS, Fredericksen, Z, Giles, GG, Baglietto, L, McLean, CA, Severi, G, Offit, K, Robson, M, Gaudet, MM, Vijai, J, Alnaes, GG, Kristensen, V, Borresen-Dale, AL, John, EM, Miron, A, Winqvist, R, Pylkas, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Figueroa, JD, Garcia-Closas, M, Lissowska, J, Sherman, ME, Hooning, M, Martens, John, Seynaeve, Caroline, Collee, M, Hall, P, Humpreys, K, Czene, K, Liu, JJ, Cox, A, Brock, IW, Cross, SS, Reed, MWR, Ahmed, S (Shahana), Ghoussaini, M, Pharoah, PDP, Kang, D, Yoo, KY, Noh, DY, Jakubowska, A, Jaworska, K, Durda, K, Zlowocka, E, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Shen, CY, Yu, JC, Hsu, HM, Hou, MF, Orr, N, Schoemaker, M, Ashworth, A, Swerdlow, A, Trentham-Dietz, A, Newcomb, PA, Titus, L, Egan, KM, Chenevix-Trench, G, Antoniou, AC, Humphreys, MK, Morrison, J, Chang-Claude, J, Easton, DF, Dunning, AM, and Truong, T
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effects were independent. Both SNPs are significantly associated with breast cancer risk in both ethnic groups. Per-allele ORs are higher in Asian than in European studies [rs2046210: OR (A/G) = 1.36 (95% CI 1.26-1.48), p = 7.6x10(-14) in Asians and 1.09 (95% CI 1.07-1.11), p = 6.8x10(-18) in Europeans. rs12662670: OR (G/T) = 1.29 (95% CI 1.19-1.41), p = 1.2x10(-9) in Asians and 1.12 (95% CI 1.08-1.17), p = 3.8x10(-9) in Europeans]. SNP rs2046210 is associated with a significantly greater risk of ER- than ER+ tumours in Europeans [OR (ER-) = 1.20 (95% CI 1.15-1.25), p = 1.8x10(-17) versus OR (ER+) = 1.07 (95% CI 1.04-1.1), p = 1.3x10(-7), p(heterogeneity) = 5.1x10(-6)]. In these Asian studies, by contrast, there is no clear evidence of a differential association by tumour receptor status. Each SNP is associated with risk after adjustment for the other SNP. These results suggest the presence of two variants at 6q25.1 each independently associated with breast cancer risk in Asians and in Europeans. Of these two, the one tagged by rs2046210 is associated with a greater risk of ER- tumours.
Published: 2012

215. Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

Author: Broeks, A., Schmidt, M.K., Sherman, M.E., Couch, F.J., Hopper, J.L., Dite, G.S., Apicella, C., Smith, L.D., Hammet, F., Southey, M.C., Veer, L.J. van 't, Groot, R. de, Smit, V.T., Fasching, P.A., Beckmann, M.W., Jud, S., Ekici, A.B., Hartmann, A., Hein, A., Schulz-Wendtland, R., Burwinkel, B., Marme, F., Schneeweiss, A., Sinn, H.P., Sohn, C., Tchatchou, S., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Orsted, D.D., Kaur-Knudsen, D., Milne, R.L., Perez, J.I., Zamora, P., Rodriguez, P.M., Benitez, J., Brauch, H., Justenhoven, C., Ko, Y.D., Hamann, U., Fischer, H.P., Bruning, T., Pesch, B., Chang-Claude, J., Wang-Gohrke, S., Bremer, M., Karstens, J.H., Hillemanns, P., Dork, T., Nevanlinna, H.A., Heikkinen, T., Heikkila, P., Blomqvist, C., Aittomaki, K., Aaltonen, K., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V.M., Kauppinen, J.M., Kataja, V., Auvinen, P., Eskelinen, M., Soini, Y., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Holland, H., Lambrechts, D., Claes, B., Vandorpe, T., Neven, P., Wildiers, H., Flesch-Janys, D., Hein, R., Loning, T., Kosel, M., Fredericksen, Z.S., Wang, X., Giles, G.G., Baglietto, L., Severi, G., McLean, C., Haiman, C.A., Henderson, B.E., Marchand, L. le, Kolonel, L.N., Alnaes, G.G., Kristensen, V., Borresen-Dale, A.L., Hunter, D.J., Hankinson, S.E., Andrulis, I.L., Mulligan, A.M., O'Malley, F.P., Devilee, P., Huijts, P.E., Tollenaar, R.A.E.M., Asperen, C.J. van, Broeks, A., Schmidt, M.K., Sherman, M.E., Couch, F.J., Hopper, J.L., Dite, G.S., Apicella, C., Smith, L.D., Hammet, F., Southey, M.C., Veer, L.J. van 't, Groot, R. de, Smit, V.T., Fasching, P.A., Beckmann, M.W., Jud, S., Ekici, A.B., Hartmann, A., Hein, A., Schulz-Wendtland, R., Burwinkel, B., Marme, F., Schneeweiss, A., Sinn, H.P., Sohn, C., Tchatchou, S., Bojesen, S.E., Nordestgaard, B.G., Flyger, H., Orsted, D.D., Kaur-Knudsen, D., Milne, R.L., Perez, J.I., Zamora, P., Rodriguez, P.M., Benitez, J., Brauch, H., Justenhoven, C., Ko, Y.D., Hamann, U., Fischer, H.P., Bruning, T., Pesch, B., Chang-Claude, J., Wang-Gohrke, S., Bremer, M., Karstens, J.H., Hillemanns, P., Dork, T., Nevanlinna, H.A., Heikkinen, T., Heikkila, P., Blomqvist, C., Aittomaki, K., Aaltonen, K., Lindblom, A., Margolin, S., Mannermaa, A., Kosma, V.M., Kauppinen, J.M., Kataja, V., Auvinen, P., Eskelinen, M., Soini, Y., Chenevix-Trench, G., Spurdle, A.B., Beesley, J., Chen, X., Holland, H., Lambrechts, D., Claes, B., Vandorpe, T., Neven, P., Wildiers, H., Flesch-Janys, D., Hein, R., Loning, T., Kosel, M., Fredericksen, Z.S., Wang, X., Giles, G.G., Baglietto, L., Severi, G., McLean, C., Haiman, C.A., Henderson, B.E., Marchand, L. le, Kolonel, L.N., Alnaes, G.G., Kristensen, V., Borresen-Dale, A.L., Hunter, D.J., Hankinson, S.E., Andrulis, I.L., Mulligan, A.M., O'Malley, F.P., Devilee, P., Huijts, P.E., Tollenaar, R.A.E.M., and Asperen, C.J. van
Abstract: Contains fulltext : 96071.pdf (publisher's version ) (Closed access), Breast cancers demonstrate substantial biological, clinical and etiological heterogeneity. We investigated breast cancer risk associations of eight susceptibility loci identified in GWAS and two putative susceptibility loci in candidate genes in relation to specific breast tumor subtypes. Subtypes were defined by five markers (ER, PR, HER2, CK5/6, EGFR) and other pathological and clinical features. Analyses included up to 30 040 invasive breast cancer cases and 53 692 controls from 31 studies within the Breast Cancer Association Consortium. We confirmed previous reports of stronger associations with ER+ than ER- tumors for six of the eight loci identified in GWAS: rs2981582 (10q26) (P-heterogeneity = 6.1 x 10(-18)), rs3803662 (16q12) (P = 3.7 x 10(-5)), rs13281615 (8q24) (P = 0.002), rs13387042 (2q35) (P = 0.006), rs4973768 (3p24) (P = 0.003) and rs6504950 (17q23) (P = 0.002). The two candidate loci, CASP8 (rs1045485, rs17468277) and TGFB1 (rs1982073), were most strongly related with the risk of PR negative tumors (P = 5.1 x 10(-6) and P = 4.1 x 10(-4), respectively), as previously suggested. Four of the eight loci identified in GWAS were associated with triple negative tumors (P
Published: 2011

216. 7q21-rs6964587 and breast cancer risk: An extended case-control study by the Breast Cancer Association Consortium

Author: Milne, R.L. (Roger), Lorenzo-Bermejo, J. (Justo), Burwinkel, B. (Barbara), Malats, N. (Núria), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Humphreys, M.K. (Manjeet), García-Closas, M. (Montserrat), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Irwanto, A. (Astrid), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xing), Fredericksen, Z. (Zachary), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Margolin, S. (Sara), Lindblom, A. (Annika), Fasching, P.A. (Peter), Schulz-Wendtland, R. (Rüdiger), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Wang-Gohrke, S. (Shan), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Wu, P.-E. (Pei-Ei), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), English, D.R. (Dallas), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Frank, B. (Bernd), Heil, J. (Joerg), Meindl, A. (Alfons), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Southey, M.C. (Melissa), Smith, L. (Letitia), Apicella, C. (Carmel), Hopper, J.L. (John), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Pharoah, P.D.P. (Paul), Hamann, U. (Ute), Pesch, B. (Beate), Ko, Y-D. (Yon-Dschun), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Milne, R.L. (Roger), Lorenzo-Bermejo, J. (Justo), Burwinkel, B. (Barbara), Malats, N. (Núria), Arias Pérez, J.I. (José Ignacio), Zamora, M.P. (Pilar), Benítez, J. (Javier), Humphreys, M.K. (Manjeet), García-Closas, M. (Montserrat), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Devilee, P. (Peter), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Hall, P. (Per), Czene, K. (Kamila), Liu, J. (Jianjun), Irwanto, A. (Astrid), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xing), Fredericksen, Z. (Zachary), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Flyger, H. (Henrik), Margolin, S. (Sara), Lindblom, A. (Annika), Fasching, P.A. (Peter), Schulz-Wendtland, R. (Rüdiger), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Wang-Gohrke, S. (Shan), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Wu, P.-E. (Pei-Ei), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), English, D.R. (Dallas), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Frank, B. (Bernd), Heil, J. (Joerg), Meindl, A. (Alfons), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Vrieling, A. (Alina), Flesch-Janys, D. (Dieter), Southey, M.C. (Melissa), Smith, L. (Letitia), Apicella, C. (Carmel), Hopper, J.L. (John), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Pharoah, P.D.P. (Paul), Hamann, U. (Ute), Pesch, B. (Beate), Ko, Y-D. (Yon-Dschun), Easton, D.F. (Douglas), and Chenevix-Trench, G. (Georgia)
Published: 2011
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217. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

Author: Azzato, E.M. (Elizabeth), Tyrer, J.P. (Jonathan), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Benítez, J. (Javier), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Wang-Gohrke, S. (Shan), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kataja, V. (Vesa), Beesley, J. (Jonathan), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Olson, J.E. (Janet), Fredericksen, Z. (Zachary), Wang, X. (Xing), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), Southey, M.C. (Melissa), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Bolton, K.L. (Kelly), Hall, A.S. (Alistair), Czene, K. (Kamila), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Greenberg, D.C. (David), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Humphreys, M.K. (Manjeet), Easton, D.F. (Douglas), Caporaso, N.E. (Neil), Pharoah, P.D.P. (Paul), Azzato, E.M. (Elizabeth), Tyrer, J.P. (Jonathan), Fasching, P.A. (Peter), Beckmann, M.W. (Matthias), Ekici, A.B. (Arif), Schulz-Wendtland, R. (Rüdiger), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Arias Pérez, J.I. (José Ignacio), Menéndez, P. (Primitiva), Benítez, J. (Javier), Chang-Claude, J. (Jenny), Hein, R. (Rebecca), Wang-Gohrke, S. (Shan), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Margolin, S. (Sara), Mannermaa, A. (Arto), Kosma, V-M. (Veli-Matti), Kataja, V. (Vesa), Beesley, J. (Jonathan), Chenevix-Trench, G. (Georgia), Couch, F.J. (Fergus), Olson, J.E. (Janet), Fredericksen, Z. (Zachary), Wang, X. (Xing), Giles, G.G. (Graham), Severi, G. (Gianluca), Baglietto, L. (Laura), Southey, M.C. (Melissa), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Bolton, K.L. (Kelly), Hall, A.S. (Alistair), Czene, K. (Kamila), Cox, A. (Angela), Brock, I.W. (Ian), Elliott, G. (Graeme), Reed, M.W.R. (Malcolm), Greenberg, D.C. (David), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Humphreys, M.K. (Manjeet), Easton, D.F. (Douglas), Caporaso, N.E. (Neil), and Pharoah, P.D.P. (Paul)
Abstract: Background Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival. MethodsWe evaluated possible associations between overall survival after a breast cancer diagnosis and 10621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5′ nuclease assay or mass spectrometry and overall survival information for up to 14096 patients with invasive breast cancer (including 2303 deaths and 70019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided. ResultsIn the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 × 10-5). This association was also observed in the validation dataset (HR of death per rar
Published: 2010
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218. Missense Variants in ATM in 26,101 Breast Cancer Cases and 29,842 Controls

Author: Fletcher, O., Johnson, N., Silva, Andreá Lema Da, Orr, N., Ashworth, A., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Burwinkel, B., Bartram, C.R., Meindl, A., Schmutzler, R.K., Cox, A., Brock, I., Elliott, George Arthur, Travis, Brandon Reed, Southey, M.C., Smith, L., Spurdle, A.B., Hopper, J.L., Couch, F.J., Olson, J.E., Wang, X.S., Fredericksen, Z., Schurmann, P., Waltes, R., Bremer, M., Dork, T., Devilee, P., van Asperen, C.J., Tollenaar, R.A.E.M., Seynaeve, C., Hall, Katrine Blædel Pinholt, Czene, K., Humphreys, K., Liu, J.J., Ahmed, S., Dunning, A.M., Maranian, M., Pharoah, P.D.P., Chenevix-Trench, G., Beesley, J., Bogdanova, N.V., Antonenkova, N.N., Zalutsky, I.V., Anton-Culver, H., Ziogas, A., Brauch, H., Ko, Y.D., Hamann, U., Fasching, P.A., Strick, R., Ekici, A.B., Beckmann, M.W., Gaubert, Giles, Severi, G., Baglietto, L., English, D.R., Milne, R.L., Benitez, J., Arias, J.I., Pita, G., Nordestgaard, B.G., Bojesen, S.E., Flyger, H., Kang, D., Larsen, Marie Sofie Yoo, Noh, D.Y., Mannermaa, A., Kataja, V., Kosma, V.M., Garcia-Closas, M., Chanock, S., Lissowska, J., Brinton, L.A., Chang-Claude, J., Wang-Gohrke, S., Broeks, A., Schmidt, M.K., van Leeuwen, F.E., Van't Veer, L.J., Margolin, S., Hansen, Anne Lindblom, Humphreys, M.K., Morrison, Ann Judith, Platte, R., Easton, D.F., Peto, J., Fletcher, O., Johnson, N., Silva, Andreá Lema Da, Orr, N., Ashworth, A., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Burwinkel, B., Bartram, C.R., Meindl, A., Schmutzler, R.K., Cox, A., Brock, I., Elliott, George Arthur, Travis, Brandon Reed, Southey, M.C., Smith, L., Spurdle, A.B., Hopper, J.L., Couch, F.J., Olson, J.E., Wang, X.S., Fredericksen, Z., Schurmann, P., Waltes, R., Bremer, M., Dork, T., Devilee, P., van Asperen, C.J., Tollenaar, R.A.E.M., Seynaeve, C., Hall, Katrine Blædel Pinholt, Czene, K., Humphreys, K., Liu, J.J., Ahmed, S., Dunning, A.M., Maranian, M., Pharoah, P.D.P., Chenevix-Trench, G., Beesley, J., Bogdanova, N.V., Antonenkova, N.N., Zalutsky, I.V., Anton-Culver, H., Ziogas, A., Brauch, H., Ko, Y.D., Hamann, U., Fasching, P.A., Strick, R., Ekici, A.B., Beckmann, M.W., Gaubert, Giles, Severi, G., Baglietto, L., English, D.R., Milne, R.L., Benitez, J., Arias, J.I., Pita, G., Nordestgaard, B.G., Bojesen, S.E., Flyger, H., Kang, D., Larsen, Marie Sofie Yoo, Noh, D.Y., Mannermaa, A., Kataja, V., Kosma, V.M., Garcia-Closas, M., Chanock, S., Lissowska, J., Brinton, L.A., Chang-Claude, J., Wang-Gohrke, S., Broeks, A., Schmidt, M.K., van Leeuwen, F.E., Van't Veer, L.J., Margolin, S., Hansen, Anne Lindblom, Humphreys, M.K., Morrison, Ann Judith, Platte, R., Easton, D.F., and Peto, J.
Abstract: Background: Truncating mutations in ATM have been shown to increase the risk of breast cancer but the effect of missense variants remains contentious. Methods: We have genotyped five polymorphic (minor allele frequency, 0.9-2.6%) missense single nucleotide polymorphisms (SNP) in ATM (S49C, S707P, F858L, P1054R, and L1420F) in 26,101 breast cancer cases and 29,842 controls from 23 studies in the Breast Cancer Association Consortium. Results: Combining the data from all five SNPs, the odds ratio (OR) was 1.05 for being a heterozygote for any of the SNPs and 1.51 for being a rare homozygote for any of the SNPs with an overall trend OR of 1.06 (P-trend = 0.04). The trend OR among bilateral and familial cases was 1.12 (95% confidence interval, 1.02-1.23; P-trend = 0.02). Conclusions: In this large combined analysis, these five missense ATM SNPs were associated with a small increased risk of breast cancer, explaining an estimated 0.03% of the excess familial risk of breast cancer. Impact: Testing the combined effects of rare missense variants in known breast cancer genes in large collaborative studies should clarify their overall contribution to breast cancer susceptibility. Cancer Epidemiol Biomarkers Prev; 19(9); 2143-51. (C) 2010 AACR
Published: 2010

219. Abstract S4-2: Targeted intraoperative radiotherapy for early breast cancer: TARGIT-A trial- updated analysis of local recurrence and first analysis of survival

Author: Vaidya, JS, primary, Wenz, F, additional, Bulsara, M, additional, Joseph, D, additional, Tobias, JS, additional, Keshtgar, M, additional, Flyger, H, additional, Massarut, S, additional, Alvarado, M, additional, Saunders, C, additional, Eiermann, W, additional, Metaxas, M, additional, Sperk, E, additional, Sutterlin, M, additional, Brown, D, additional, Esserman, L, additional, Roncadin, M, additional, Thompson, A, additional, Dewar, JA, additional, Holtveg, H, additional, Pigorsch, S, additional, Falzon, M, additional, Harris, E, additional, Matthews, A, additional, Brew-Graves, C, additional, Potyka, I, additional, Corica, T, additional, Williams, NR, additional, and Baum, M, additional
Published: 2012
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220. 5179 POSTER Elevated Pre-treatment Levels of Plasma C-reactive Protein Are Associated With Poor Prognosis After Breast Cancer

Author: Bojesen, S., primary, Allin, K.H., additional, Nordestgaard, B.G., additional, and Flyger, H., additional
Published: 2011
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221. 5195 POSTER Persistent Pain After Targeted Intraoperative Radiotherapy (TARGIT) or External Breast Radiotherapy for Breast Cancer – a Randomized Trial

Author: Andersen, K. Gevinq, primary, Gártner, R., additional, Kroman, N., additional, Flyger, H., additional, and Kehlet, H., additional
Published: 2011
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222. Effect of a fruit and vegetable subscription in Danish schools

Author: Eriksen, K., Haraldsdóttir, J., Pederson, R., Flyger, H. V., Eriksen, K., Haraldsdóttir, J., Pederson, R., and Flyger, H. V.
Published: 2003

223. Prognostic impact of matched preoperative plasma and serum VEGF in patients with primary colorectal carcinoma

Author: Werther, K., Christensen, I.J., Nielsen, H.J., Schulze, S., Thorup, J., Wille-Jørgensen, P., Bentzen, E., Christoffersen, I., Møller, P., Banke, L., Froberg, D., Henriksen, F.W., Crone, P., Hesselfeldt, P., Hempel Sparsø, B., Lindorff Larsen, K., Asmussen, T., Heiner, J., Hart Hansen, O., Flyger, H., Jess, P., Iversen, J., La Cour-Andersen, J., Vennits, B., Moesgaard, F., Hammer, J., Fischer, A., Galatius, H., Naver, L., Teilum, D., Holbraad, L., Iversen, O., Nymark, J., Roikjær, O., Svendsen, L.B., Vedel, L., Palm, L., Rasmussen, K.C., Friis, J., Lanng, C., Wiboltt, K., Jensen, N.C., Hoffman, N., Larsen, T., Packler, J., Werther, K., Christensen, I.J., Nielsen, H.J., Schulze, S., Thorup, J., Wille-Jørgensen, P., Bentzen, E., Christoffersen, I., Møller, P., Banke, L., Froberg, D., Henriksen, F.W., Crone, P., Hesselfeldt, P., Hempel Sparsø, B., Lindorff Larsen, K., Asmussen, T., Heiner, J., Hart Hansen, O., Flyger, H., Jess, P., Iversen, J., La Cour-Andersen, J., Vennits, B., Moesgaard, F., Hammer, J., Fischer, A., Galatius, H., Naver, L., Teilum, D., Holbraad, L., Iversen, O., Nymark, J., Roikjær, O., Svendsen, L.B., Vedel, L., Palm, L., Rasmussen, K.C., Friis, J., Lanng, C., Wiboltt, K., Jensen, N.C., Hoffman, N., Larsen, T., and Packler, J.
Published: 2002

224. The association between preoperative concentration of soluble vascular endothelial growth factor, perioperative blood transfusion, and survival in patients with primary colorectal cancer

Author: Werther, K., Christensen, I.J., Nielsen, H.J., Schulze, S., Thorup, J., Wille-Jørgensen, P., Bentzen, E., Christoffersen, I., Møller, P., Banke, L., Froberg, D., Henriksen, F.W., Crone, P., Hesselfeldt, P., Hempel Sparsø, B., Lindorff Larsen, K., Asmussen, T., Heiner, J., Hart Hansen, O., Flyger, H., Jess, P., Iversen, J., La Cour-Andersen, J., Vennits, B., Moesgaard, F., Hammer, J., Fischer, A., Galatius, H., Naver, L., Teilum, D., Holbraad, L., Iversen, O., Nymark, J., Roikjær, O., Svendsen, L.B., Vedel, L., Palm, L., Rasmussen, K.C., Friis, J., Lanng, C., Wiboltt, K., Jensen, N.C., Hoffman, N., Larsen, T., Packler, J., Werther, K., Christensen, I.J., Nielsen, H.J., Schulze, S., Thorup, J., Wille-Jørgensen, P., Bentzen, E., Christoffersen, I., Møller, P., Banke, L., Froberg, D., Henriksen, F.W., Crone, P., Hesselfeldt, P., Hempel Sparsø, B., Lindorff Larsen, K., Asmussen, T., Heiner, J., Hart Hansen, O., Flyger, H., Jess, P., Iversen, J., La Cour-Andersen, J., Vennits, B., Moesgaard, F., Hammer, J., Fischer, A., Galatius, H., Naver, L., Teilum, D., Holbraad, L., Iversen, O., Nymark, J., Roikjær, O., Svendsen, L.B., Vedel, L., Palm, L., Rasmussen, K.C., Friis, J., Lanng, C., Wiboltt, K., Jensen, N.C., Hoffman, N., Larsen, T., and Packler, J.
Published: 2001

225. Serum YKL-40 and colorectal cancer

Author: Cintin, C., Johansen, J.S., Christensen, I.J., Price, P.A., Sørensen, S., Nielsen, H.J., Schulze, S., Thorup, J., Wille-Jøegensen, P., Bentzen, E., Christoffersen, I., Møller, P., Banke, L., Froberg, D., Henriksen, F.W., Crone, P., Hesselfeldt, P., Sparsø, B.H., Larsen, K.L., Asmussen, T., Heiner, J., Hansen, O.H., Flyger, H., Jess, P., Iversen, J., La Cour-Andersen, J., Vennits, B., Moesgraad, F., Hammer, J., Fischer, A., Galatius, H., Naver, L., Teilum, D., Holbraad, L., Iversen, O., Nymark, J., Roikjær, O., Svendsen, L.B., Vedel, L., Palm, L., Rasmussen, K.C., Friis, J., Lanng, C., Wiboltt, K., Jensen, N.C., Hoffman, N., Larsen, T., Packler, J., Cintin, C., Johansen, J.S., Christensen, I.J., Price, P.A., Sørensen, S., Nielsen, H.J., Schulze, S., Thorup, J., Wille-Jøegensen, P., Bentzen, E., Christoffersen, I., Møller, P., Banke, L., Froberg, D., Henriksen, F.W., Crone, P., Hesselfeldt, P., Sparsø, B.H., Larsen, K.L., Asmussen, T., Heiner, J., Hansen, O.H., Flyger, H., Jess, P., Iversen, J., La Cour-Andersen, J., Vennits, B., Moesgraad, F., Hammer, J., Fischer, A., Galatius, H., Naver, L., Teilum, D., Holbraad, L., Iversen, O., Nymark, J., Roikjær, O., Svendsen, L.B., Vedel, L., Palm, L., Rasmussen, K.C., Friis, J., Lanng, C., Wiboltt, K., Jensen, N.C., Hoffman, N., Larsen, T., and Packler, J.
Published: 1999

226. The anticoagulant activity and toxicity of dextran sulphate and a xylan polysulphuric acid.

Author: Astrup, T., Flyger, H. H. K., Gormsen, J., and FLYGER, H H
Published: 1955
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227. Validation of the self-administered Danish Prostatic Symptom Score (DAN-PSS-1) system for use in benign prostatic hyperplasia

Author: HANSEN, B.J., primary, FLYGER, H., additional, BRASSO, K., additional, SCHOU, J., additional, NORDLING, J., additional, ANDERSEN, J. THORUP, additional, MORTENSENM, S., additional, MEYHOFF, H-H., additional, WALTER, S., additional, and HALD, T., additional
Published: 1995
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228. DNA Aneuploidy in Gastric Carcinoma Flow Cytometric Data Related to Survival, Location, and Histopathologic Findings

Author: Flyger, H. L., primary, Christensen, I. J., additional, Thorup, J., additional, Håkansson, T. U., additional, and Nørgaard, T., additional
Published: 1995
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229. Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival.

Author: Azzato EM, Tyrer J, Fasching PA, Beckmann MW, Ekici AB, Schulz-Wendtland R, Bojesen SE, Nordestgaard BG, Flyger H, Milne RL, Arias JI, Menéndez P, Benítez J, Chang-Claude J, Hein R, Wang-Gohrke S, Nevanlinna H, Heikkinen T, Aittomäki K, and Blomqvist C
Abstract: Background: Traditional prognostic factors for survival and treatment response of patients with breast cancer do not fully account for observed survival variation. We used available genotype data from a previously conducted two-stage, breast cancer susceptibility genome-wide association study (ie, Studies of Epidemiology and Risk factors in Cancer Heredity [SEARCH]) to investigate associations between variation in germline DNA and overall survival.Methods: We evaluated possible associations between overall survival after a breast cancer diagnosis and 10 621 germline single-nucleotide polymorphisms (SNPs) from up to 3761 patients with invasive breast cancer (including 647 deaths and 26 978 person-years at risk) that were genotyped previously in the SEARCH study with high-density oligonucleotide microarrays (ie, hypothesis-generating set). Associations with all-cause mortality were assessed for each SNP by use of Cox regression analysis, generating a per rare allele hazard ratio (HR). To validate putative associations, we used patient genotype information that had been obtained with 5' nuclease assay or mass spectrometry and overall survival information for up to 14 096 patients with invasive breast cancer (including 2303 deaths and 70 019 person-years at risk) from 15 international case-control studies (ie, validation set). Fixed-effects meta-analysis was used to generate an overall effect estimate in the validation dataset and in combined SEARCH and validation datasets. All statistical tests were two-sided.Results: In the hypothesis-generating dataset, SNP rs4778137 (C>G) of the OCA2 gene at 15q13.1 was statistically significantly associated with overall survival among patients with estrogen receptor-negative tumors, with the rare G allele being associated with increased overall survival (HR of death per rare allele carried = 0.56, 95% confidence interval [CI] = 0.41 to 0.75, P = 9.2 x 10(-5)). This association was also observed in the validation dataset (HR of death per rare allele carried = 0.88, 95% CI = 0.78 to 0.99, P = .03) and in the combined dataset (HR of death per rare allele carried = 0.82, 95% CI = 0.73 to 0.92, P = 5 x 10(-4)).Conclusion: The rare G allele of the OCA2 polymorphism, rs4778137, may be associated with improved overall survival among patients with estrogen receptor-negative breast cancer. [ABSTRACT FROM AUTHOR]
Published: 2010
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230. Air pollution in Copenhagen. Part I: Element analysis and size distribution of aerosols

Author: Flyger, H., Palmgren Jensen, F., and Kemp, K.
Subjects: Risø-R-338, Risø report 338, Risø-338, SDG 11 - Sustainable Cities and Communities
Abstract: Aerosols were monitored in Greater Copenhagen in the period June 1973 to July 1 974. Size-fractionated cascade impactor samples and unfractionated filter samples were regularly collected and analyzed by neutron activation analysis, spark emission spectroscopy or proton-induced X-ray emission spectroscopy. Concentrations were determined of the following elements: Al, Si, S, CI, K, Ca. Ti, V, Cr, Mn, Fe, Ni, Cu, Zn, Br, Mo, Cd, Sn, Sb, and Pb. All elements showed orders-of-magnitude fluctuations; the mean concentrations were roughly the same as in other large cities. In relation to proposed air quality standards, Pb was the most critical component. Statistical analysis of variation patterns, size distributions and interelement correlations indicate that automotive exhaust is the source of Br and Pb; fuel-oil combustion is the main source of V and Ni (and partly of S); soil dust raised by wind or by human activity (e. g. traffic) is the main source of Al, Si, Ca, Ti, and Fe.
Published: 1976

231. On-Site Test of Filters in Nuclear Facilities using Radioactive Sodium Chloride (24Na)-Aerosol and Methyl Iodine (131I)

Author: Heidam, N. Z., Hansen, K. A., Fenger, J., Flyger, H., Jensen, Per Hedemann, and Jensen, P.
Subjects: Risø-R-532, Risø-R-532(EN)
Abstract: The nuclear facilities at Risø National Laboratory are equipped with high-efficiency filters to protect the environment from routine or accidental releases of radioactive material. The filter efficiency must be tested regularly and a method for on-site control is described. It is based on injection of a radioactive sample in the filter duct, followed by sampling before and after the filter. HEPA-filters are tested with a 24NaCl-aerosol and charcoal filters with 131ICH3. Normally samples of 1 mCi areused. Penetrations (1 - efficiency) can be determined with a relative uncertainty of 10-15%.
Published: 1986

232. Physical and chemical process of sulphur dioxide in the plume from an oil-fired power station

Author: Flyger, H., Lewin, E., Lund Thomsen, E., Fenger, J., Lyck, E., and Gryning, Sven-Erik
Subjects: Risø-R-328, Risø-328, Risø report 328
Published: 1977

233. On-Site Test of Filters in Nuclear Facilities Using Radioactive Sodium Chloride ((24)Na)-Aerosol and Methyl Iodide ((131)I)

Author: RISOE NATIONAL LAB ROSKILDE (DENMARK), Heidam, N. Z., Hansen, K. A., Fenger, J., Flyger, H., Jensen, P. H., RISOE NATIONAL LAB ROSKILDE (DENMARK), Heidam, N. Z., Hansen, K. A., Fenger, J., Flyger, H., and Jensen, P. H.
Abstract: The nuclear facilities at Risoe National Laboratory are equipped with high-efficiency filters to protect the environment from routine or accidental releases of radioactive material. The filter efficiency must be tested regularly and a method for on-site control is described. It is based on injection of a radioactive sample in the filter duct, followed by sampling before and after the filter. HEPA-filters are tested with a Na(24)Cl-aerosol and charcoal filters with I(131)CH3. Normally samples of 1 mCi are used. Penetrations (1 - efficiency) can be determined with a relative uncertainty of 10-15%., ISBN 87-550-1184-5. ISSN 0106-2840.
Published: 1986

234. Lead in Danish Food-Stuffs

Author: Aarkrog, Asker, Solgaard, Per Bent, Fenger, J., Flyger, H., Graabæk, A. M., Aarkrog, Asker, Solgaard, Per Bent, Fenger, J., Flyger, H., and Graabæk, A. M.
Abstract: A long-term study (1962-1976) of the Pb content of food has been performed using samples of Danish food substances collected annually at the Riso National Laboratory. Samples so far investigated are: 150 samples of dried milk from 7 factories; 500 samples of Danish cereals (spring and winter wheat, Triticum vulgare, and barley) from 10 of the state experimental farms; and 70 samples of total diet collected in 8 areas covering all of Denmark. Pb concn. in the ash of dried milk varied from 13 to
Published: 1979

235. Filtrering af partikelformige urenheder i luft

Author: Flyger, H. and Flyger, H.
Published: 1968

236. Måling af kondensationskim

Author: Flyger, H. and Flyger, H.
Published: 1967

237. Filtrering af aerosoler

Author: Flyger, H. and Flyger, H.
Published: 1967

238. Anvendelse af kondensationskimtælling

Author: Flyger, H. and Flyger, H.
Published: 1967

239. An objective assessment of cosmetic outcome after intraoperative radiotherapy or external beam radiotherapy for early breast cancer in patients from a randomized controlled trial

Author: Keshtgar, M., Williams, N. R., Corica, T., Bulsara, M., Saunders, C., Flyger, H., Bentzon, N., Jaime Cardoso, Michalopoulos, N., and Joseph, D.

240. Association analysis identifies 65 new breast cancer risk loci

Author: Michailidou, K, Lindström, S, Dennis, J, Beesley, J, Hui, S, Kar, S, Lemaçon, A, Soucy, P, Glubb, D, Rostamianfar, A, Bolla, MK, Wang, Q, Tyrer, J, Dicks, E, Lee, A, Wang, Z, Allen, J, Keeman, R, Eilber, U, French, JD, Qing Chen, X, Fachal, L, McCue, K, McCart Reed, AE, Ghoussaini, M, Carroll, JS, Jiang, X, Finucane, H, Adams, M, Adank, MA, Ahsan, H, Aittomäki, K, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Arun, B, Auer, PL, Bacot, F, Barrdahl, M, Baynes, C, Beckmann, MW, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bonanni, B, Børresen-Dale, A-L, Brand, JS, Brauch, H, Brennan, P, Brenner, H, Brinton, L, Broberg, P, Brock, IW, Broeks, A, Brooks-Wilson, A, Brucker, SY, Brüning, T, Burwinkel, B, Butterbach, K, Cai, Q, Cai, H, Caldés, T, Canzian, F, Carracedo, A, Carter, BD, Castelao, JE, Chan, TL, David Cheng, T-Y, Seng Chia, K, Choi, J-Y, Christiansen, H, Clarke, CL, NBCS Collaborators, Collée, M, Conroy, DM, Cordina-Duverger, E, Cornelissen, S, Cox, DG, Cox, A, Cross, SS, Cunningham, JM, Czene, K, Daly, MB, Devilee, P, Doheny, KF, Dörk, T, Dos-Santos-Silva, I, Dumont, M, Durcan, L, Dwek, M, Eccles, DM, Ekici, AB, Eliassen, AH, Ellberg, C, Elvira, M, Engel, C, Eriksson, M, Fasching, PA, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Fritschi, L, Gaborieau, V, Gabrielson, M, Gago-Dominguez, M, Gao, Y-T, Gapstur, SM, García-Sáenz, JA, Gaudet, MM, Georgoulias, V, Giles, GG, Glendon, G, Goldberg, MS, Goldgar, DE, González-Neira, A, Grenaker Alnæs, GI, Grip, M, Gronwald, J, Grundy, A, Guénel, P, Haeberle, L, Hahnen, E, Haiman, CA, Håkansson, N, Hamann, U, Hamel, N, Hankinson, S, Harrington, P, Hart, SN, Hartikainen, JM, Hartman, M, Hein, A, Heyworth, J, Hicks, B, Hillemanns, P, Ho, DN, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Hou, M-F, Hsiung, C-N, Huang, G, Humphreys, K, Ishiguro, J, Ito, H, Iwasaki, M, Iwata, H, Jakubowska, A, Janni, W, John, EM, Johnson, N, Jones, K, Jones, M, Jukkola-Vuorinen, A, Kaaks, R, Kabisch, M, Kaczmarek, K, Kang, D, Kasuga, Y, Kerin, MJ, Khan, S, Khusnutdinova, E, Kiiski, JI, Kim, S-W, Knight, JA, Kosma, V-M, Kristensen, VN, Krüger, U, Kwong, A, Lambrechts, D, Le Marchand, L, Lee, E, Lee, MH, Lee, JW, Neng Lee, C, Lejbkowicz, F, Li, J, Lilyquist, J, Lindblom, A, Lissowska, J, Lo, W-Y, Loibl, S, Long, J, Lophatananon, A, Lubinski, J, Luccarini, C, Lux, MP, Ma, ESK, MacInnis, RJ, Maishman, T, Makalic, E, Malone, KE, Kostovska, IM, Mannermaa, A, Manoukian, S, Manson, JE, Margolin, S, Mariapun, S, Martinez, ME, Matsuo, K, Mavroudis, D, McKay, J, McLean, C, Meijers-Heijboer, H, Meindl, A, Menéndez, P, Menon, U, Meyer, J, Miao, H, Miller, N, Taib, NAM, Muir, K, Mulligan, AM, Mulot, C, Neuhausen, SL, Nevanlinna, H, Neven, P, Nielsen, SF, Noh, D-Y, Nordestgaard, BG, Norman, A, Olopade, OI, Olson, JE, Olsson, H, Olswold, C, Orr, N, Pankratz, VS, Park, SK, Park-Simon, T-W, Lloyd, R, Perez, JIA, Peterlongo, P, Peto, J, Phillips, K-A, Pinchev, M, Plaseska-Karanfilska, D, Prentice, R, Presneau, N, Prokofyeva, D, Pugh, E, Pylkäs, K, Rack, B, Radice, P, Rahman, N, Rennert, G, Rennert, HS, Rhenius, V, Romero, A, Romm, J, Ruddy, KJ, Rüdiger, T, Rudolph, A, Ruebner, M, Rutgers, EJT, Saloustros, E, Sandler, DP, Sangrajrang, S, Sawyer, EJ, Schmidt, DF, Schmutzler, RK, Schneeweiss, A, Schoemaker, MJ, Schumacher, F, Schürmann, P, Scott, RJ, Scott, C, Seal, S, Seynaeve, C, Shah, M, Sharma, P, Shen, C-Y, Sheng, G, Sherman, ME, Shrubsole, MJ, Shu, X-O, Smeets, A, Sohn, C, Southey, MC, Spinelli, JJ, Stegmaier, C, Stewart-Brown, S, Stone, J, Stram, DO, Surowy, H, Swerdlow, A, Tamimi, R, Taylor, JA, Tengström, M, Teo, SH, Beth Terry, M, Tessier, DC, Thanasitthichai, S, Thöne, K, Tollenaar, RAEM, Tomlinson, I, Tong, L, Torres, D, Truong, T, Tseng, C-C, Tsugane, S, Ulmer, H-U, Ursin, G, Untch, M, Vachon, C, Van Asperen, CJ, Van Den Berg, D, Van Den Ouweland, AMW, Van Der Kolk, L, Van Der Luijt, RB, Vincent, D, Vollenweider, J, Waisfisz, Q, Wang-Gohrke, S, Weinberg, CR, Wendt, C, Whittemore, AS, Wildiers, H, Willett, W, Winqvist, R, Wolk, A, Wu, AH, Xia, L, Yamaji, T, Yang, XR, Har Yip, C, Yoo, K-Y, Yu, J-C, Zheng, W, Zheng, Y, Zhu, B, Ziogas, A, Ziv, E, ABCTB Investigators, ConFab/AOCS Investigators, Lakhani, Antoniou, AC, Droit, A, Andrulis, IL, Amos, CI, Couch, FJ, Pharoah, PDP, Chang-Claude, J, Hall, P, Hunter, DJ, Milne, RL, García-Closas, M, Schmidt, MK, Chanock, SJ, Dunning, AM, Edwards, SL, Bader, GD, Chenevix-Trench, G, Simard, J, Kraft, P, and Easton, DF
Subjects: ConFab/AOCS Investigators, ABCTB Investigators, skin and connective tissue diseases, 3. Good health, NBCS Collaborators
Abstract: Breast cancer risk is influenced by rare coding variants in susceptibility genes, such as BRCA1, and many common, mostly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. Here we report the results of a genome-wide association study of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci that are associated with overall breast cancer risk at P < 5 × 10-8. The majority of credible risk single-nucleotide polymorphisms in these loci fall in distal regulatory elements, and by integrating in silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also find that heritability of breast cancer due to all single-nucleotide polymorphisms in regulatory features was 2-5-fold enriched relative to the genome-wide average, with strong enrichment for particular transcription factor binding sites. These results provide further insight into genetic susceptibility to breast cancer and will improve the use of genetic risk scores for individualized screening and prevention.

241. Association Between a Germline OCA2 Polymorphism at Chromosome 15q13.1 and Estrogen Receptor-Negative Breast Cancer Survival

Author: Azzato, E. M., Tyrer, J., Fasching, P. A., Beckmann, M. W., Ekici, A. B., Schulz-Wendtland, R., Stig Bojesen, Børge Nordestgaard, Flyger, H., Milne, R. L., Arias, J. I., Menendez, P., Benitez, J., Chang-Claude, J., Hein, R., Wang-Gohrke, S., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Margolin, S., Mannermaa, A., Kosma, V. M., Kataja, V., Beesley, J., Chen, X. Q., Chenevix-Trench, G., Couch, F. J., Olson, J. E., Fredericksen, Z. S., Wang, X. S., Giles Gaubert, Severi, G., Baglietto, L., Southey, M. C., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Garcia-Closas, M., Lissowska, J., Sherman, M. E., Bolton, K. L., Katrine Blædel Pinholt Hall, Czene, K., Cox, A., Brock, I. W., George Arthur Elliott, Greenberg, D., Anton-Culver, H., Ziogas, A., Humphreys, M., Easton, D. F., Caporaso, N. E., and Pharoah, P. D. P.

242. rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

Author: Liu, J, Lončar, I, Collée, JM, Bolla, MK, Dennis, J, Michailidou, K, Wang, Q, Andrulis, IL, Barile, M, Beckmann, MW, Behrens, S, Benitez, J, Blomqvist, C, Boeckx, B, Bogdanova, NV, Bojesen, SE, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, Chen, S-T, Chenevix-Trench, G, Cheng, CY, Choi, J-Y, Couch, FJ, Cox, A, Cross, SS, Cuk, K, Czene, K, Dörk, T, Dos-Santos-Silva, I, Fasching, PA, Figueroa, J, Flyger, H, García-Closas, M, Giles, GG, Glendon, G, Goldberg, MS, González-Neira, A, Guénel, P, Haiman, CA, Hamann, U, Hart, SN, Hartman, M, Hatse, S, Hopper, JL, Ito, H, Jakubowska, A, Kabisch, M, Kang, D, Kosma, V-M, Kristensen, VN, Le Marchand, L, Lee, E, Li, J, Lophatananon, A, Lubinski, Jan, Mannermaa, A, Matsuo, K, Milne, RL, NBCS Collaborators, Neuhausen, SL, Nevanlinna, H, Orr, N, Perez, JIA, Peto, J, Putti, TC, Pylkäs, K, Radice, P, Sangrajrang, S, Sawyer, EJ, Schmidt, MK, Schneeweiss, A, Shen, C-Y, Shrubsole, MJ, Shu, X-O, Simard, J, Southey, MC, Swerdlow, A, Teo, SH, Tessier, DC, Thanasitthichai, S, Tomlinson, I, Torres, D, Truong, T, Tseng, C-C, Vachon, C, Winqvist, R, Wu, AH, Yannoukakos, D, Zheng, W, Hall, P, Dunning, AM, Easton, DF, Hooning, MJ, Van Den Ouweland, AMW, Martens, JWM, and Hollestelle, A
Subjects: BRCA2 Protein, Binding Sites, Genotype, BRCA1 Protein, Nuclear Proteins, Breast Neoplasms, Cell Cycle Proteins, Polymorphism, Single Nucleotide, 3. Good health, MicroRNAs, Risk Factors, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, 3' Untranslated Regions, Alleles
Abstract: NBS1, also known as NBN, plays an important role in maintaining genomic stability. Interestingly, rs2735383 G > C, located in a microRNA binding site in the 3'-untranslated region (UTR) of NBS1, was shown to be associated with increased susceptibility to lung and colorectal cancer. However, the relation between rs2735383 and susceptibility to breast cancer is not yet clear. Therefore, we genotyped rs2735383 in 1,170 familial non-BRCA1/2 breast cancer cases and 1,077 controls using PCR-based restriction fragment length polymorphism (RFLP-PCR) analysis, but found no association between rs2735383CC and breast cancer risk (OR = 1.214, 95% CI = 0.936-1.574, P = 0.144). Because we could not exclude a small effect size due to a limited sample size, we further analyzed imputed rs2735383 genotypes (r$^{2}$ > 0.999) of 47,640 breast cancer cases and 46,656 controls from the Breast Cancer Association Consortium (BCAC). However, rs2735383CC was not associated with overall breast cancer risk in European (OR = 1.014, 95% CI = 0.969-1.060, P = 0.556) nor in Asian women (OR = 0.998, 95% CI = 0.905-1.100, P = 0.961). Subgroup analyses by age, age at menarche, age at menopause, menopausal status, number of pregnancies, breast feeding, family history and receptor status also did not reveal a significant association. This study therefore does not support the involvement of the genotype at NBS1 rs2735383 in breast cancer susceptibility.

243. Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

Author: Lawrenson, K, Kar, S, McCue, K, Kuchenbaeker, K, Michailidou, K, Tyrer, J, Beesley, J, Ramus, SJ, Li, Q, Delgado, MK, Lee, JM, Aittomäki, K, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Bandera, EV, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, MW, Benitez, J, Berchuck, A, Bisogna, M, Bjorge, L, Blomqvist, C, Blot, W, Bogdanova, N, Bojesen, A, Bojesen, SE, Bolla, MK, Bonanni, B, Børresen-Dale, A-L, Brauch, H, Brennan, P, Brenner, H, Bruinsma, F, Brunet, J, Buhari, SA, Burwinkel, B, Butzow, R, Buys, SS, Cai, Q, Caldes, T, Campbell, I, Canniotto, R, Chang-Claude, J, Chiquette, J, Choi, J-Y, Claes, KBM, GEMO Study Collaborators, Cook, LS, Cox, A, Cramer, DW, Cross, SS, Cybulski, C, Czene, K, Daly, MB, Damiola, F, Dansonka-Mieszkowska, A, Darabi, H, Dennis, J, Devilee, P, Diez, O, Doherty, JA, Domchek, SM, Dorfling, CM, Dörk, T, Dumont, M, Ehrencrona, H, Ejlertsen, B, Ellis, S, EMBRACE, Engel, C, Lee, E, Evans, DG, Fasching, PA, Feliubadalo, L, Figueroa, J, Flesch-Janys, D, Fletcher, O, Flyger, H, Foretova, L, Fostira, F, Foulkes, WD, Fridley, BL, Friedman, E, Frost, D, Gambino, G, Ganz, PA, Garber, J, García-Closas, M, Gentry-Maharaj, A, Ghoussaini, M, Giles, GG, Glasspool, R, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Goode, EL, Goodman, MT, Greene, MH, Gronwald, J, Guénel, P, Haiman, CA, Hall, P, Hallberg, E, Hamann, U, Hansen, TVO, Harrington, PA, Hartman, M, Hassan, N, Healey, S, Hereditary Breast And Ovarian Cancer Research Group Netherlands (HEBON), Heitz, F, Herzog, J, Høgdall, E, Høgdall, CK, Hogervorst, FBL, Hollestelle, A, Hopper, JL, Hulick, PJ, Huzarski, T, Imyanitov, EN, KConFab Investigators, Australian Ovarian Cancer Study Group, Isaacs, C, Ito, H, Jakubowska, A, Janavicius, R, Jensen, A, John, EM, Johnson, N, Kabisch, M, Kang, D, Kapuscinski, M, Karlan, BY, Khan, S, Kiemeney, LA, Kjaer, SK, Knight, JA, Konstantopoulou, I, Kosma, V-M, Kristensen, V, Kupryjanczyk, J, Kwong, A, De La Hoya, M, Laitman, Y, Lambrechts, D, Le, N, De Leeneer, K, Lester, J, Levine, DA, Li, J, Lindblom, A, Long, J, Lophatananon, A, Loud, JT, Lu, K, Lubinski, J, Mannermaa, A, Manoukian, S, Le Marchand, L, Margolin, S, Marme, F, Massuger, LFAG, Matsuo, K, Mazoyer, S, McGuffog, L, McLean, C, McNeish, I, Meindl, A, Menon, U, Mensenkamp, AR, Milne, RL, Montagna, M, Moysich, KB, Muir, K, Mulligan, AM, Nathanson, KL, Ness, RB, Neuhausen, SL, Nevanlinna, H, Nord, S, Nussbaum, RL, Odunsi, K, Offit, K, Olah, E, Olopade, OI, Olson, JE, Olswold, C, O'Malley, D, Orlow, I, Orr, N, Osorio, A, Park, SK, Pearce, CL, Pejovic, T, Peterlongo, P, Pfeiler, G, Phelan, CM, Poole, EM, Pylkäs, K, Radice, P, Rantala, J, Rashid, MU, Rennert, G, Rhenius, V, Rhiem, K, Risch, HA, Rodriguez, G, Rossing, MA, Rudolph, A, Salvesen, HB, Sangrajrang, S, Sawyer, EJ, Schildkraut, JM, Schmidt, MK, Schmutzler, RK, Sellers, TA, Seynaeve, C, Shah, M, Shen, C-Y, Shu, X-O, Sieh, W, Singer, CF, Sinilnikova, OM, Slager, S, Song, H, Soucy, P, Southey, MC, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Sutter, C, Swerdlow, A, Tchatchou, S, Teixeira, MR, Teo, SH, Terry, KL, Terry, MB, Thomassen, M, Tibiletti, MG, Tihomirova, L, Tognazzo, S, Toland, AE, Tomlinson, I, Torres, D, Truong, T, Tseng, C-C, Tung, N, Tworoger, SS, Vachon, C, Van Den Ouweland, AMW, Van Doorn, HC, Van Rensburg, EJ, Van't Veer, LJ, Vanderstichele, A, Vergote, I, Vijai, J, Wang, Q, Wang-Gohrke, S, Weitzel, JN, Wentzensen, N, Whittemore, AS, Wildiers, H, Winqvist, R, Wu, AH, Yannoukakos, D, Yoon, S-Y, Yu, J-C, Zheng, W, Zheng, Y, Khanna, KK, Simard, J, Monteiro, AN, French, JD, Couch, FJ, Freedman, ML, Easton, DF, Dunning, AM, Pharoah, PD, Edwards, SL, Chenevix-Trench, G, Antoniou, AC, and Gayther, SA
Subjects: Ovarian Neoplasms, Genotype, Black People, Breast Neoplasms, Polymorphism, Single Nucleotide, 3. Good health, Asian People, Humans, Female, Genetic Predisposition to Disease, RNA, Messenger, Chromosomes, Human, Pair 19, Alleles, Genome-Wide Association Study
Abstract: A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10(-20)), ER-negative BC (P=1.1 × 10(-13)), BRCA1-associated BC (P=7.7 × 10(-16)) and triple negative BC (P-diff=2 × 10(-5)). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10(-3)) and ABHD8 (P

244. Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

Author: Schmidt, MK, Hogervorst, F, Van Hien, R, Cornelissen, S, Broeks, A, Adank, MA, Meijers, H, Waisfisz, Q, Hollestelle, A, Schutte, M, Van Den Ouweland, A, Hooning, M, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Antoniou, AC, Arndt, V, Bermisheva, M, Bogdanova, NV, Bolla, MK, Brauch, H, Brenner, H, Brüning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Couch, FJ, Cox, A, Cross, SS, Czene, K, Dunning, AM, Fasching, PA, Figueroa, J, Fletcher, O, Flyger, H, Galle, E, García-Closas, M, Giles, GG, Haeberle, L, Hall, P, Hillemanns, P, Hopper, JL, Jakubowska, A, John, EM, Jones, M, Khusnutdinova, E, Knight, JA, Kosma, V-M, Kristensen, V, Lee, A, Lindblom, A, Lubinski, J, Mannermaa, A, Margolin, S, Meindl, A, Milne, RL, Muranen, TA, Newcomb, PA, Offit, K, Park-Simon, T-W, Peto, J, Pharoah, PDP, Robson, M, Rudolph, A, Sawyer, EJ, Schmutzler, RK, Seynaeve, C, Soens, J, Southey, MC, Spurdle, AB, Surowy, H, Swerdlow, A, Tollenaar, RAEM, Tomlinson, I, Trentham-Dietz, A, Vachon, C, Wang, Q, Whittemore, AS, Ziogas, A, Van Der Kolk, L, Nevanlinna, H, Dörk, T, Bojesen, S, and Easton, DF
Subjects: Adult, Aged, 80 and over, Heterozygote, Homozygote, Age Factors, Breast Neoplasms, Middle Aged, Risk Assessment, 3. Good health, Checkpoint Kinase 2, Receptors, Estrogen, Case-Control Studies, Odds Ratio, Humans, Female, Genetic Predisposition to Disease, skin and connective tissue diseases, Receptors, Progesterone, Aged, Sequence Deletion
Abstract: PURPOSE: CHEK2*1100delC is a well-established breast cancer risk variant that is most prevalent in European populations; however, there are limited data on risk of breast cancer by age and tumor subtype, which limits its usefulness in breast cancer risk prediction. We aimed to generate tumor subtype- and age-specific risk estimates by using data from the Breast Cancer Association Consortium, including 44,777 patients with breast cancer and 42,997 controls from 33 studies genotyped for CHEK2*1100delC. PATIENTS AND METHODS: CHEK2*1100delC genotyping was mostly done by a custom Taqman assay. Breast cancer odds ratios (ORs) for CHEK2*1100delC carriers versus noncarriers were estimated by using logistic regression and adjusted for study (categorical) and age. Main analyses included patients with invasive breast cancer from population- and hospital-based studies. RESULTS: Proportions of heterozygous CHEK2*1100delC carriers in controls, in patients with breast cancer from population- and hospital-based studies, and in patients with breast cancer from familial- and clinical genetics center-based studies were 0.5%, 1.3%, and 3.0%, respectively. The estimated OR for invasive breast cancer was 2.26 (95%CI, 1.90 to 2.69; P = 2.3 × 10(-20)). The OR was higher for estrogen receptor (ER)-positive disease (2.55 [95%CI, 2.10 to 3.10; P = 4.9 × 10(-21)]) than it was for ER-negative disease (1.32 [95%CI, 0.93 to 1.88; P = .12]; P interaction = 9.9 × 10(-4)). The OR significantly declined with attained age for breast cancer overall (P = .001) and for ER-positive tumors (P = .001). Estimated cumulative risks for development of ER-positive and ER-negative tumors by age 80 in CHEK2*1100delC carriers were 20% and 3%, respectively, compared with 9% and 2%, respectively, in the general population of the United Kingdom. CONCLUSION: These CHEK2*1100delC breast cancer risk estimates provide a basis for incorporating CHEK2*1100delC into breast cancer risk prediction models and into guidelines for intensified screening and follow-up.

245. Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21

Author: Hamdi, Y, Soucy, P, Adoue, V, Michailidou, K, Canisius, S, Lemaçon, A, Droit, A, Andrulis, IL, Anton-Culver, H, Arndt, V, Baynes, C, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Borresen-Dale, A-L, Brand, JS, Brauch, H, Brenner, H, Broeks, A, Burwinkel, B, Chang-Claude, J, Collaborators, N, Couch, FJ, Cox, A, Cross, SS, Czene, K, Darabi, H, Dennis, J, Devilee, P, Dörk, T, Dos-Santos-Silva, I, Eriksson, M, Fasching, PA, Figueroa, J, Flyger, H, García-Closas, M, Giles, GG, Goldberg, MS, González-Neira, A, Grenaker-Alnæs, G, Guénel, P, Haeberle, L, Haiman, CA, Hamann, U, Hallberg, E, Hooning, MJ, Hopper, JL, Jakubowska, A, Jones, M, Kabisch, M, Kataja, V, Lambrechts, D, Le Marchand, L, Lindblom, A, Lubinski, J, Mannermaa, A, Maranian, M, Margolin, S, Marme, F, Milne, RL, Neuhausen, SL, Nevanlinna, H, Neven, P, Olswold, C, Peto, J, Plaseska-Karanfilska, D, Pylkäs, K, Radice, P, Rudolph, A, Sawyer, EJ, Schmidt, MK, Shu, X-O, Southey, MC, Swerdlow, A, Tollenaar, RAEM, Tomlinson, I, Torres, D, Truong, T, Vachon, C, Van Den Ouweland, AMW, Wang, Q, Winqvist, R, KConFab/Aocs Investigators, Zheng, W, Benitez, J, Chenevix-Trench, G, Dunning, AM, Pharoah, PDP, Kristensen, V, Hall, P, Easton, DF, Pastinen, T, Nord, S, and Simard, J
Subjects: breast cancer, association studies, differential allelic expression, cis-regulatory variants, 3. Good health, genetic susceptibility
Abstract: There are significant inter-individual differences in the levels of gene expression. Through modulation of gene expression, $\textit{cis}$-acting variants represent an important source of phenotypic variation. Consequently, $\textit{cis}$-regulatory SNPs associated with differential allelic expression are functional candidates for further investigation as disease-causing variants. To investigate whether common variants associated with differential allelic expression were involved in breast cancer susceptibility, a list of genes was established on the basis of their involvement in cancer related pathways and/or mechanisms. Thereafter, using data from a genome-wide map of allelic expression associated SNPs, 313 genetic variants were selected and their association with breast cancer risk was then evaluated in 46,451 breast cancer cases and 42,599 controls of European ancestry ascertained from 41 studies participating in the Breast Cancer Association Consortium. The associations were evaluated with overall breast cancer risk and with estrogen receptor negative and positive disease. One novel breast cancer susceptibility locus on 4q21 (rs11099601) was identified (OR = 1.05, $\textit{P}$ = 5.6x10$^{-6}$). rs11099601 lies in a 135 kb linkage disequilibrium block containing several genes, including, $\textit{HELQ}$, encoding the protein HEL308 a DNA dependant ATPase and DNA Helicase involved in DNA repair, $\textit{MRPS18C}$ encoding the Mitochondrial Ribosomal Protein S18C and $\textit{FAM175A (ABRAXAS)}$, encoding a $\textit{BRCA1}$ BRCT domain-interacting protein involved in DNA damage response and double-strand break (DSB) repair. Expression QTL analysis in breast cancer tissue showed rs11099601 to be associated with $\textit{HELQ }$ ($\textit{P}$ = 8.28x10$^{-14}$), $\textit{MRPS18C}$ ($\textit{P}$ = 1.94x10$^{-27}$) and $\textit{FAM175A }$ ($\textit{P}$ = 3.83x10$^{-3}$), explaining about 20%, 14% and 1%, respectively of the variance inexpression of these genes in breast carcinomas.

246. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Michailidou, K, Beesley, J, Lindstrom, S, Canisius, S, Dennis, J, Lush, MJ, Maranian, MJ, Bolla, MK, Wang, Q, Shah, M, Perkins, BJ, Czene, K, Eriksson, M, Darabi, H, Brand, JS, Bojesen, SE, Nordestgaard, BG, Flyger, H, Nielsen, SF, Rahman, N, Turnbull, C, BOCS, Fletcher, O, Peto, J, Gibson, L, dos-Santos-Silva, I, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Eilber, U, Behrens, S, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Khan, S, Aaltonen, K, Ahsan, H, Kibriya, MG, Whittemore, AS, John, EM, Malone, KE, Gammon, MD, Santella, RM, Ursin, G, Makalic, E, Schmidt, DF, Casey, G, Hunter, DJ, Gapstur, SM, Gaudet, MM, Diver, WR, Haiman, CA, Schumacher, F, Henderson, BE, Le Marchand, L, Berg, CD, Chanock, SJ, Figueroa, J, Hoover, RN, Lambrechts, D, Neven, P, Wildiers, H, van Limbergen, E, Schmidt, MK, Broeks, A, Verhoef, S, Cornelissen, S, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Li, J, Liu, J, Humphreys, K, Kang, D, Choi, JY, Park, SK, Yoo, KY, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Guénel, P, Truong, T, Mulot, C, Sanchez, M, Burwinkel, B, Marme, F, Surowy, H, Sohn, C, Wu, AH, Tseng, CC, Van Den Berg, D, Stram, DO, González-Neira, A, Benitez, J, Zamora, MP, Perez, JI, Shu, XO, Lu, W, Gao, YT, Cai, H, Cox, A, Cross, SS, Reed, MW, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, ConFab Investigators, AOCS Group, Lindblom, A, Margolin, S, Teo, SH, Yip, CH, Taib, NA, Tan, GH, Hooning, MJ, Hollestelle, A, Martens, JW, Collée, JM, Blot, W, Signorello, LB, Cai, Q, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Shen, CY, Hsiung, CN, Wu, PE, Hou, MF, Kristensen, VN, Nord, S, Alnaes, GI, NBCS, Giles, GG, Milne, RL, McLean, C, Canzian, F, Trichopoulos, D, Peeters, P, Lund, E, Sund, M, Khaw, KT, Gunter, MJ, Palli, D, Mortensen, LM, Dossus, L, Huerta, JM, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Hartman, M, Miao, H, Chia, KS, Chan, CW, Fasching, PA, Hein, A, Beckmann, MW, Haeberle, L, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Ashworth, A, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Brinton, L, Garcia-Closas, M, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Goldberg, MS, Labrèche, F, Dumont, M, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Brauch, H, Hamann, U, Brüning, T, GENICA Network, Radice, P, Peterlongo, P, Manoukian, S, Bernard, L, Bogdanova, NV, Dörk, T, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Devilee, P, Tollenaar, RA, Seynaeve, C, Van Asperen, CJ, Jakubowska, A, Lubinski, J, Jaworska, K, Huzarski, T, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Kabisch, M, Torres, D, Neuhausen, SL, Anton-Culver, H, Luccarini, C, Baynes, C, Ahmed, S, Healey, CS, Tessier, DC, Vincent, D, Bacot, F, Pita, G, Alonso, MR, Álvarez, N, Herrero, D, Simard, J, Pharoah, PP, Kraft, P, Dunning, AM, Chenevix-Trench, G, Hall, P, Easton, DF, Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana, Michailidou, K, Beesley, J, Lindstrom, S, Canisius, S, Dennis, J, Lush, MJ, Maranian, MJ, Bolla, MK, Wang, Q, Shah, M, Perkins, BJ, Czene, K, Eriksson, M, Darabi, H, Brand, JS, Bojesen, SE, Nordestgaard, BG, Flyger, H, Nielsen, SF, Rahman, N, Turnbull, C, BOCS, Fletcher, O, Peto, J, Gibson, L, dos-Santos-Silva, I, Chang-Claude, J, Flesch-Janys, D, Rudolph, A, Eilber, U, Behrens, S, Nevanlinna, H, Muranen, TA, Aittomäki, K, Blomqvist, C, Khan, S, Aaltonen, K, Ahsan, H, Kibriya, MG, Whittemore, AS, John, EM, Malone, KE, Gammon, MD, Santella, RM, Ursin, G, Makalic, E, Schmidt, DF, Casey, G, Hunter, DJ, Gapstur, SM, Gaudet, MM, Diver, WR, Haiman, CA, Schumacher, F, Henderson, BE, Le Marchand, L, Berg, CD, Chanock, SJ, Figueroa, J, Hoover, RN, Lambrechts, D, Neven, P, Wildiers, H, van Limbergen, E, Schmidt, MK, Broeks, A, Verhoef, S, Cornelissen, S, Couch, FJ, Olson, JE, Hallberg, E, Vachon, C, Waisfisz, Q, Meijers-Heijboer, H, Adank, MA, van der Luijt, RB, Li, J, Liu, J, Humphreys, K, Kang, D, Choi, JY, Park, SK, Yoo, KY, Matsuo, K, Ito, H, Iwata, H, Tajima, K, Guénel, P, Truong, T, Mulot, C, Sanchez, M, Burwinkel, B, Marme, F, Surowy, H, Sohn, C, Wu, AH, Tseng, CC, Van Den Berg, D, Stram, DO, González-Neira, A, Benitez, J, Zamora, MP, Perez, JI, Shu, XO, Lu, W, Gao, YT, Cai, H, Cox, A, Cross, SS, Reed, MW, Andrulis, IL, Knight, JA, Glendon, G, Mulligan, AM, Sawyer, EJ, Tomlinson, I, Kerin, MJ, Miller, N, ConFab Investigators, AOCS Group, Lindblom, A, Margolin, S, Teo, SH, Yip, CH, Taib, NA, Tan, GH, Hooning, MJ, Hollestelle, A, Martens, JW, Collée, JM, Blot, W, Signorello, LB, Cai, Q, Hopper, JL, Southey, MC, Tsimiklis, H, Apicella, C, Shen, CY, Hsiung, CN, Wu, PE, Hou, MF, Kristensen, VN, Nord, S, Alnaes, GI, NBCS, Giles, GG, Milne, RL, McLean, C, Canzian, F, Trichopoulos, D, Peeters, P, Lund, E, Sund, M, Khaw, KT, Gunter, MJ, Palli, D, Mortensen, LM, Dossus, L, Huerta, JM, Meindl, A, Schmutzler, RK, Sutter, C, Yang, R, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Hartman, M, Miao, H, Chia, KS, Chan, CW, Fasching, PA, Hein, A, Beckmann, MW, Haeberle, L, Brenner, H, Dieffenbach, AK, Arndt, V, Stegmaier, C, Ashworth, A, Orr, N, Schoemaker, MJ, Swerdlow, AJ, Brinton, L, Garcia-Closas, M, Zheng, W, Halverson, SL, Shrubsole, M, Long, J, Goldberg, MS, Labrèche, F, Dumont, M, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Brauch, H, Hamann, U, Brüning, T, GENICA Network, Radice, P, Peterlongo, P, Manoukian, S, Bernard, L, Bogdanova, NV, Dörk, T, Mannermaa, A, Kataja, V, Kosma, VM, Hartikainen, JM, Devilee, P, Tollenaar, RA, Seynaeve, C, Van Asperen, CJ, Jakubowska, A, Lubinski, J, Jaworska, K, Huzarski, T, Sangrajrang, S, Gaborieau, V, Brennan, P, McKay, J, Slager, S, Toland, AE, Ambrosone, CB, Yannoukakos, D, Kabisch, M, Torres, D, Neuhausen, SL, Anton-Culver, H, Luccarini, C, Baynes, C, Ahmed, S, Healey, CS, Tessier, DC, Vincent, D, Bacot, F, Pita, G, Alonso, MR, Álvarez, N, Herrero, D, Simard, J, Pharoah, PP, Kraft, P, Dunning, AM, Chenevix-Trench, G, Hall, P, and Easton, DF

247. The background level of the summer tropospheric aerosol, sulphur dioxide and ozone over Greenland and the North Atlantic Ocean

Author: Flyger, H, primary, Heidam, N.Z, additional, Hansen, K, additional, Megaw, W.J, additional, Walther, E.G, additional, and Hogan, A.W, additional
Published: 1976
Full Text: View/download PDF

248. The background levels of the summer tropospheric aerosol and trace gases in Greenland

Author: Flyger, H., primary, Heidam, N.Z., additional, Hansen, K.A., additional, Rasmussen, L., additional, and Megaw, W.J., additional
Published: 1980
Full Text: View/download PDF

249. On-site test of high-efficiency filters in nuclear facilities using radioactively labelled sodium chloride (24Na)-aerosol and methyliodide (131I)

Author: Heidam, N.Z., primary, Hansen, K.A., additional, Fenger, J., additional, and Flyger, H., additional
Published: 1984
Full Text: View/download PDF

250. Ground level measurements of the summer tropospheric aerosol in Northern Greenland

Author: Flyger, H., primary and Heidam, N.Z., additional
Published: 1978
Full Text: View/download PDF

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