@article{3089255,
    title = "19p13.1 Is a triple-negative-specific breast cancer susceptibility locus",
    author = "Stevens, K.N. and Fredericksen, Z. and Vachon, C.M. and Wang, X. and Margolin, S. and Lindblom, A. and Nevanlinna, H. and Greco, D. and Aittomak̈i, K. and Blomqvist, C. and Chang-Claude, J. and Vrieling, A. and Flesch-Janys, D. and Sinn, H.-P. and Wang-Gohrke, S. and Nickels, S. and Brauch, H. and Ko, Y.-D. and Fischer, H.-P. and Schmutzler, R.K. and Meindl, A. and Bartram, C.R. and Schott, S. and Engel, C. and Godwin, A.K. and Weaver, J. and Pathak, H.B. and Sharma, P. and Brenner, H. and Mul̈ler, H. and Arndt, V. and Stegmaier, C. and Miron, P. and Yannoukakos, D. and Stavropoulou, A. and Fountzilas, G. and Gogas, H.J. and Swann, R. and Dwek, M. and Perkins, A. and Milne, R.L. and Benit́ez, J. and Zamora, M.P. and Peŕez, J.I.A. and Bojesen, S.E. and Nielsen, S.F. and Nordestgaard, B.G. and Flyger, H. and Gueńel, P. and Truong, T. and Menegaux, F. and Cordina-Duverger, E. and Burwinkel, B. and Marme, F. and Schneeweiss, A. and Sohn, C. and Sawyer, E. and Tomlinson, I. and Kerin, M.J. and Peto, J. and Johnson, N. and Fletcher, O. and Dos Santos Silva, I. and Fasching, P.A. and Beckmann, M.W. and Hartmann, A. and Ekici, A.B. and Lophatananon, A. and Muir, K. and Puttawibul, P. and Wiangnon, S. and Schmidt, M.K. and Broeks, A. and Braaf, L.M. and Rosenberg, E.H. and Hopper, J.L. and Apicella, C. and Park, D.J. and Southey, M.C. and Swerdlow, A.J. and Ashworth, A. and Nicholas, O. and Schoemaker, M.J. and Anton-Culver, H. and Ziogas, A. and Bernstein, L. and Dur, C.C. and Shen, C.-Y. and Yu, J.-C. and Hsu, H.-M. and Hsiung, C.-N. and Hamann, U. and Dun̈nebier, T. and Rud̈iger, T. and Ulmer, H.U. and Pharoah, P.P. and Dunning, A.M. and Humphreys, M.K. and Wang, Q. and Cox, A. and Cross, S.S. and Reed, M.W. and Hall, P. and Czene, K. and Ambrosone, C.B. and Ademuyiwa, F. and Hwang, H. and Eccles, D.M. and Garcia-Closas, M. and Figueroa, J.D. and Sherman, M.E. and Lissowska, J. and Devilee, P. and Seynaeve, C. and Tollenaar, R.A.E.M. and Hooning, M.J. and Andrulis, I.L. and Knight, J.A. and Glendon, G. and Mulligan, A.M. and Winqvist, R. and Pylkas̈, K. and Jukkola-Vuorinen, A. and Grip, M. and John, E.M. and Miron, A. and Alnsæ, G.G. and Kristensen, V. and Brøresen-Dale, A.-L. and Giles, G.G. and Baglietto, L. and McLean, C.A. and Severi, G. and Kosel, M.L. and Pankratz, V.S. and Slager, S. and Olson, J.E. and Radice, P. and Peterlongo, P. and Manoukian, S. and Barile, M. and Lambrechts, D. and Hatse, S. and Dieudonne, A.-S. and Christiaens, M.-R. and Chenevix-Trench, G. and Beesley, J. and Chen, X. and Mannermaa, A. and Kosma, V.-M. and Hartikainen, J.M. and Soini, Y. and Easton, D.F. and Couch, F.J.",
    journal = "Current Cancer Research",
    year = "2012",
    volume = "72",
    number = "7",
    pages = "1795-1803",
    publisher = "American Association for Cancer Research Inc.",
    doi = "10.1158/0008-5472.CAN-11-3364",
    keywords = "epidermal growth factor receptor 2;  estrogen receptor;  progesterone receptor, article;  cancer risk;  cancer susceptibility;  chromosome 19p;  chromosome identification;  controlled study;  female;  gene locus;  genetic association;  genetic susceptibility;  genetic variability;  genotype;  heterozygosity;  histopathology;  human;  major clinical study;  priority journal;  single nucleotide polymorphism;  triple negative breast cancer",
    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. ©2012 AACR."
}