19p13.1 is a triple negative-specific breast cancer susceptibility locus

Stevens, Kristen N., Fredericksen, Zachary, Vachon, Celine, Wang , Xianshu, Margolin, Sara, Lindblom, Annika, Nevanlinna, Heli, Greco, Dario, Aittomaki, Kristiina, Blomqvist, Carl, Chang-Claude, Jenny, Vrieling, Alina, Flesch-Janys, Dieter, Sinn, Hans-Peter, Wang-Gohrke, Shan, Nickels, Stefan, Brauch, Hiltrud, Ko, Yon-Dschun, Fischer, Hans-Peter, Schmutzler, Rita K., Meindl, Alfons, Bartram, Claus R., Schott, Sarah, Engel, Christoph, Godwin, Andrew K., Weaver, JoEllen, Pathak, Harsh B., Sharma, Priyanka, Brenner, Hermann, Muller, Heiko, Arndt, Volker, Stegmaier, Christa, Miron, Penelope, Yannoukakos, Drakoulis, Stavropoulou, Alexandra, Fountzilas, George, Gogas, Helen J., Swann, Ruth, Dwek, Miriam, Perkins, Annie, Milne, Roger L., Benitez, Javier, Zamora, M. Pilar, Ignacio Arias Perez, Jose, Bojesen, Stig E., Nielsen, Sune F., Nordestgaard, Borge G., Flyger, Henrik, Guenel, Pascal, Truong, Therese, Menegaux, Florence, Cordina-Duverger, Emilie, Burwinkel, Barbara, Marme, Frederick, Schneeweiss, Andreas, Sohn, Christof, Sawyer, Elinor, Tomlinson, Ian, Kerin, Michael J., Peto, Julian, Johnson, Nichola, Fletcher, Olivia, Dos Santos Silva, Isabel, Fasching, Peter A., Beckmann, Matthias W., Hartmann, Arndt, Ekici, Arif B., Lophatananon, Artitaya, Muir, Kenneth, Puttawibul, Puttisak, Wiangnon, Surapon, Schmidt, Marjanka K., Broeks, Annegien, Braaf, Linde M., Rosenberg, Efraim H., Hopper, John L., Apicella, Carmel, Park, Daniel J., Southey , Melissa C., Swerdlow, Anthony J., Ashworth, Alan, Orr, Nick, Schoemaker, Minouk J., Anton-Culver, Hoda, Ziogas, Argyrios, Bernstein, Leslie, Clarke Dur, Christina, Shen, Chen-Yang, Yu, Jyh-Cherng, Hsu, Huan-Ming, Hsiung, Chia-Ni, Hamann, Ute, Dünnebier, Thomas, Rüdiger, Thomas, Ulmer, Hans Ulrich, Pharoah, Paul D. P., Dunning, Alison M., Humphreys, Manjeet K., Wang, Qin, Cox, Angela, Cross, Simon S., Reed, Malcolm W.R., Hall , Per, Czene, Kamila, Ambrosone, Christine B., Ademuyiwa, Foluso, Hwang, Helena, Eccles, Diana M., Garcia-Closas, Montserrat, Figueroa, Jonine D., Sherman, Mark E., Lissowska, Jolanta, Devilee, Peter, Seynaeve, Caroline, Tollenaar, R.A.E.M, Hooning, Maartje J., Andrulis, Irene L., Knight, Julia A., Glendon, Gord, Mulligan, Anne Marie, Winqvist, Robert, Pylkas, Katri, Jukkola-Vuorinen, Arja, Grip, Mervi, John , Esther M., Miron, Alexander, Grenaker Alnaes, Grethe, Kristensen, Vessela, Borresen-Dale, Anne-Lise, Giles, Graham G., Baglietto, Laura, McLean, Catriona A., Severi, Gianluca, Kose, Matthew L., Pankratz, V. Shane, Slager, Susan, Olson, Janet E., Radice, Paolo, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Lambrechts, Diether, Hatse, Sigrid, Dieudonne, Anne-Sophie, Christiaens, Marie-Rose, Chenevix-Trench, Georgia, Beesley, Jonathan, Chen, Xiaoqing, Mannermaa, Arto, Kosma, Veli-Matti, Hartikainen, Jaana M., Soini, Ylermi, Easton, Douglas F. and Couch, Fergus J. (2012) 19p13.1 is a triple negative-specific breast cancer susceptibility locus. Cancer Research, 72 (7). pp. 1795-1803. ISSN 0008-5472

Full text not available from this repository.
Official URL: http://dx.doi.org/10.1158/0008-5472.CAN-11-3364

Abstract

The 19p13.1 breast cancer susceptibility locus is a modifier of breast cancer risk in BRCA1 mutation carriers and is also associated with 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 Odds Ratio (OR)=1.10, 95% Confidence Interval (CI) 1.05 - 1.15, p=3.49 x 10-5] and triple negative (TN) (ER, PR and HER2 negative) breast cancer [rs8170 OR=1.22, 95% CI 1.13 - 1.31, p=2.22 x 10-7]. However, rs8170 was no longer associated with ER-negative breast cancer risk when TN cases were excluded [OR=0.98, 95% CI 0.89 - 1.07, p=0.62]. In addition, a combined analysis of TN cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC) (n=3,566) identified a genome-wide significant association between rs8170 and TN breast cancer risk [OR=1.25, 95% CI 1.18 - 1.33, p=3.31 x 10-13]. Thus, 19p13.1 is the first triple negative-specific breast cancer risk locus and the first locus specific to a histological 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.

Item Type: Article
Additional Information: The GENICA Network, kConFab Investigators and AOCS Group also listed under author
Subjects: University of Westminster > Science and Technology > Life Sciences, School of (No longer in use)
Depositing User: Rachel Wheelhouse
Date Deposited: 09 Mar 2012 11:06
Last Modified: 27 Aug 2014 11:26
URI: http://westminsterresearch.wmin.ac.uk/id/eprint/10351

Actions (login required)

Edit Item (Repository staff only) Edit Item (Repository staff only)