A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

Christopher A. Haiman, Gary K. Chen, Celine M. Vachon, Federico Canzian, Alison Dunning, Robert C. Millikan, Xianshu Wang, Foluso Ademuyiwa, Shahana Ahmed, Christine B. Ambrosone, Laura Baglietto, Rosemary Balleine, Elisa V. Bandera, Matthias W. Beckmann, Christine D. Berg, Leslie Bernstein, Carl Blomqvist, William J. Blot, Hiltrud Brauch, Julie E. BuringLisa A. Carey, Jane E. Carpenter, Jenny Chang-Claude, Stephen J. Chanock, Daniel I. Chasman, Christine L. Clarke, Angela Cox, Simon S. Cross, Sandra L. Deming, Robert B. Diasio, Athanasios M. Dimopoulos, W. Ryan Driver, Thomas Duennebier, Lorraine Durcan, Diana Eccles, Christopher K. Edlund, Arif B. Ekici, Peter A. Fasching, Heather S. Feigelson, Dieter Flesch-Janys, Florentia Fostira, Asta Försti, George Fountzilas, Susan M. Gerty, Graham G. Giles, Andrew K. Godwin, Paul Goodfellow, Nikki Graham, Dario Greco, Ute Hamann, Susan E. Hankinson, Arndt Hartmann, Rebecca Hein, Judith Heinz, Andrea Holbrook, Robert N. Hoover, Jennifer J. Hu, David J. Hunter, Sue A. Ingles, Astrid Irwanto, Jennifer Ivanovich, Esther M. John, Nicola Johnson, Arja Jukkola-Vuorinen, Rudolf Kaaks, Yon-Dschun Ko, Laurence N. Kolonel, Irene Konstantopoulou, Veli-Matti Kosma, Swati Kulkarni, Diether Lambrechts, Adam M. Lee, Loic Le Marchand, Timothy Lesnick, Jianjun Liu, Sara Lindstrom, Arto Mannermaa, Sara Margolin, Nicholas G. Martin, Penelope Miron, Grant W. Montgomery, Heli Nevanlinna, Stephan Nickels, Sarah Nyante, Curtis Olswold, Julie Palmer, Harsh Pathak, Dimitrios Pectasides, Charles M. Perou, Julian Peto, Paul D. P. Pharoah, Loreall C. Pooler, Michael F. Press, Katri Pylkas, Timothy R. Rebbeck, Jorge L. Rodriguez-Gil, Lynn Rosenberg, Eric Ross, Thomas Ruediger, Isabel dos Santos Silva, Elinor Sawyer, Marjanka K. Schmidt, Ruediger Schulz-Wendtland, Fredrick Schumacher, Gianluca Severi, Xin Sheng, Lisa B. Signorello, Hans-Peter Sinn, Kristen N. Stevens, Melissa C. Southey, William J. Tapper, Ian Tomlinson, Frans B. L. Hogervorst, Els Wauters, JoEllen Weaver, Hans Wildiers, Robert Winqvist, David Van Den Berg, Peggy Wan, Lucy Y. Xia, Drakoulis Yannoukakos, Wei Zheng, Regina G. Ziegler, Afshan Siddiq, Susan L. Slager, Daniel O. Stram, Douglas Easton, Peter Kraft, Brian E. Henderson, Fergus J. Couch

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Abstract

Estrogen receptor (ER)-negative breast cancer shows a higher incidence in women of African ancestry compared to women of European ancestry. In search of common risk alleles for ER-negative breast cancer, we combined genome-wide association study (GWAS) data from women of African ancestry (1,004 ER-negative cases and 2,745 controls) and European ancestry (1,718 ER-negative cases and 3,670 controls), with replication testing conducted in an additional 2,292 ER-negative cases and 16,901 controls of European ancestry. We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 x 10(-10)). The variant was also significantly associated with triple-negative (ER-negative, progesterone receptor (PR)-negative and human epidermal growth factor-2 (HER2)-negative) breast cancer (OR = 1.25, P = 1.1 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
Original languageEnglish
Pages (from-to)1210-U61
JournalNature Genetics
Volume43
Issue number12
DOIs
Publication statusPublished - 2011

Subject classification (UKÄ)

  • Public Health, Global Health, Social Medicine and Epidemiology

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