Accès ouvert déclaré
2023
other
Data from 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus
Kristen N. Stevens, Zachary Fredericksen, Celine M. Vachon, Xianshu Wang, Sara Margolin, Annika Lindblom, Heli Nevanlinna, Dario Greco, Kristiina Aittomäki, Carl Blomqvist, Jenny Chang‐Claude, Alina Vrieling, Dieter Flesch‐Janys, Hans‐Peter Sinn, Shan Wang‐Gohrke, Stefan Nickels, Hiltrud Brauch, Yon‐Dschun Ko, Hans‐Peter Fischer, Rita K. Schmutzler, Alfons Meindl, Claus R. Bartram, Sarah Schott, Christoph Engel, Andrew K. Godwin, Joellen Weaver, Harsh B. Pathak, Priyanka Sharma, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Penelope Miron, Drakoulis Yannoukakos, Alexandra Stavropoulou, George Fountzilas, Helen Gogas, Ruth Swann, Miriam Dwek, Annie Perkins, Roger L. Milne, Javier Benı́tez, María Pilar Zamora, José Ignacio Arias Pérez, Stig E. Bojesen, Sune F. Nielsen, Børge G. Nordestgaard, Henrik Flyger, Pascal Guénel, Thérèse Truong, F. Ménégaux, Emilie Cordina‐Duverger, Barbara Burwinkel, Frederick Marmé, Andreas Schneeweiß, Christof Sohn, Elinor J. Sawyer, Ian Tomlinson, Michael J. Kerin, Julian Peto, Nichola Johnson, Olivia Fletcher, Isabel dos‐Santos‐Silva, Peter A. Fasching, Matthias W. Beckmann, Arndt Hartmann, Arif B. Ekici, Artitaya Lophatananon, Kenneth Muir, Puttisak Puttawibul, Surapon Wiangnon, Marjanka K. Schmidt, Annegien Broeks, Linde M. Braaf, Efraim H. Rosenberg, John L. Hopper, Carmel Apicella, Daniel J. Park, Melissa C. Southey, Anthony J. Swerdlow, Alan Ashworth, Minouk J. Schoemaker, Hoda Anton‐Culver, Argyrios Ziogas, Leslie Bernstein, Christina Clarke Dur, Chen‐Yang Shen, Jyh‐Cherng Yu, Huan-Ming Hsu, Chia‐Ni Hsiung, Ute Hamann, Thomas Dünnebier, Thomas Rüdiger, Hans Ulrich Ulmer, Paul D.P. Pharoah, Alison M. Dunning, Manjeet K. Humphreys, Qin Wang, Angela Cox, Simon S. Cross, Malcolm Reed, Per Hall, Kamila Czene, Christine B. Ambrosone, Foluso O. Ademuyiwa, Helena Hwang, Montserrat García‐Closas, Jonine D. Figueroa, Mark E. Sherman, Jolanta Lissowska, Peter Devilee, Caroline Seynaeve, Rob A.�E.�M. Tollenaar, Maartje J. Hooning, Irene L. Andrulis, Julia A. Knight, Gord Glendon, Anna Marie Mulligan, Robert Winqvist, Katri Pylkäs, Arja Jukkola‐Vuorinen, Mervi Grip, Esther M. John, Alexander Miron, Grethe Grenaker Alnæs, Vessela N. Kristensen, Anne‐Lise Børresen‐Dale, Graham G. Giles, Laura Baglietto, Catriona McLean, Gianluca Severi, Matthew L. Kosel, V.S. Pankratz, Susan L. Slager, Janet E. Olson, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Diether Lambrechts, Sigrid Hatse, Anne-Sophie Dieudonné, Marie-Rose Christiaens, Georgia Chenevix‐Trench, Jonathan Beesley, Veli‐Matti Kosma, Jaana M. Hartikainen, Ylermi Soini, Douglas F. Easton, Fergus J. Couch
0Citations signalées, ce qui n’est pas une note de qualité
0Institutions déclarées
0Pays d’affiliation déclarés
Le résumé fourni par la source
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 ER-negative 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. Cancer Res; 72(7); 1795–803. ©2012 AACR.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Data from 19p13.1 Is a Triple-Negative–Specific Breast Cancer Susceptibility Locus
- Date Crossref
- 30/03/2023
- Éditeur
- American Association for Cancer Research (AACR)
- Type
- posted-content
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les sujets associés
Molecular Biology Techniques and ApplicationsRNA and protein synthesis mechanisms