Molecular and Cellular Pathobiology 19 p 13 . 1 Is a Triple-Negative – Speci fi c Breast Cancer Susceptibility Locus

Content Provider	Semantic Scholar
Author	Stevens, Kristen N. Fredericksen, Zachary S. Vachon, Celine M. Wang, Xianshu Margolin, Sara J. Annika Lindblom Nevanlinna, Heli Greco, Dario Blomqvist, Carl Chang-Claude, Jenny Alina Vrieling Flesch-Janys, Dieter Sinn, H. Shanwang-Gohrke Fischer, Hans-Peter Schmutzler, Rita Meindl, Alfons Bartram, Claus Rainer Schott, Sarah Engel, Christoph Godwin, Andrew K. JoEllen Weaver Pathak, Harsh B. Sharma, Priyanka Brenner, Hermann Arndt, Volker Christa Stegmaier Miron, Penelope Yannoukakos, Drakoulis Stavropoulou, Alexandra V. Fountzilas, George Gogas, Helen J. Swann, R. Suzanne Dwek, Miriam V. Perkins, Annie Milne, Roger L. Benítez, Javier Zamora, María Pilar Martín Bojesen, Stig E. Nielsen, Sune Fallgaard Borge, George Nordestgaard Flyger, Henrik Menegaux, Florence Émilie Cordina-Duverger Burwinkel, Barbara Marm, Frederick Schneeweiss, Andreas Christof Sohn Sawyer, Elinor J. Tomlinson, Ian Kerin, Michael J. Peto, Julian Johnson, Nichola Olivia Fletcher Silva, Isabel Carvalho Da Fasching, Peter A. Beckmann, Matthias W. Hartmann, Arndt Arif Ekici, Betul Lophatananon, Artitaya Puttawibul, Puttisak Wiangnon, Surapon Marjanka, K. Schmidt Schmidt Broeks, Annegien Braaf, Linde M. Rosenberg, E. Hopper, John L. Apicella, Carmel Park, Daniel J. Southey, Melissa C. Swerdlow, Anthony J. Ashworth, Alan Orr, Nicholas Minouk, J. Schoemaker Anton-Culver, Hoda Ziogas, Argyrios Bernstein, Leslie Dur, Christina Clarke Chen, Di Shen, Yang Yu, Jyh-Cherng Hsu, Huan-Ming Hsiung, Chia-Ni Hamann, Ute Ulmer, Hans Ulrich Pharoah, Paul D. P. Dunning, Alison M. Humphreys, Manjeet K. Wang, Qin Cox, Angela Cross, Simon S. Reed, Malcom W. R. Hall, Per Czene, Kamila Christine, B. Ambrosone Ademuyiwa, Foluso O. Hwang, Helena Eccles, Diana M. Figueroa, Dolly Sherman, Mark E. Lissowska, Jolanta Devilee, Peter Seynaeve, Caroline Tollenaar Hooning, Maartje J. Andrulis, Irene L. Knight, Julia A. Winqvist, Robert Jukkola-Vuorinen, Arja John, Esther M. Miron, Alexander Alnæs, Grethe Grenaker Kristensen, Vessela N. Børresen-Dale, Anne-Lise Laura Baglietto McLean, Catriona A. Severi, Gianluca Kosel, Matthew L. Pankratz, V. Shane Slager, Susan L. Olson, Janet E. Radice, Paolo Peterlongo, Paolo Manoukian, Siranoush Barile, Monica Diether Lambrechts Hatse, Sigrid Dieudonné, Anne-Sophie Beesley, Jonathan Xiao-Qing Chen Mannermaa, Arto Kosma, Veli-Matti Hartikainen, Jaana M. Soini, Ylermi Douglas, Fiona Easton Couch, Fergus J.
Copyright Year	2012
Abstract	The 19p13.1 breast cancer susceptibility locus is amodifier of breast cancer risk inBRCA1mutation 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 theBreast 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 1⁄4 3.49 10 ] and triple-negative (ER-, PR-, and HER2-negative) breast cancer (rs8170: OR, 1.22; 95% CI, 1.13–1.31; P1⁄4 2.22 10 ). 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 1⁄4 0.62). In addition, a combined analysis of triple-negative cases from BCAC and the Triple Negative Breast Cancer Consortium (TNBCC; N 1⁄4 3,566) identified a genome-wide significant association between rs8170 and triplenegative breast cancer risk (OR, 1.25; 95%CI, 1.18–1.33; P1⁄4 3.31 10 ]. Thus, 19p13.1 is thefirst 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 throughdistinct etiologic pathways. Cancer Res; 72(7); 1795–803. 2012 AACR.
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Alternate Webpage(s)	http://cancerres.aacrjournals.org/content/canres/72/7/1795.full.pdf
Alternate Webpage(s)	https://researchmgt.monash.edu/ws/portalfiles/portal/234473045/127434874_oa.pdf
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article