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A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
Nat Genet. 2011 Oct 30;43(12) :1210-4
PMID: 22037553    PMCID: PMC3279120    URL: https://www.ncbi.nlm.nih.gov/pubmed/22037553
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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.
Notes
Haiman, Christopher A Chen, Gary K Vachon, Celine M Canzian, Federico Dunning, Alison Millikan, Robert C Wang, Xianshu Ademuyiwa, Foluso Ahmed, Shahana Ambrosone, Christine B Baglietto, Laura Balleine, Rosemary Bandera, Elisa V Beckmann, Matthias W Berg, Christine D Bernstein, Leslie Blomqvist, Carl Blot, William J Brauch, Hiltrud Buring, Julie E Carey, Lisa A Carpenter, Jane E Chang-Claude, Jenny Chanock, Stephen J Chasman, Daniel I Clarke, Christine L Cox, Angela Cross, Simon S Deming, Sandra L Diasio, Robert B Dimopoulos, Athanasios M Driver, W Ryan Dunnebier, Thomas Durcan, Lorraine Eccles, Diana Edlund, Christopher K Ekici, Arif B Fasching, Peter A Feigelson, Heather S Flesch-Janys, Dieter Fostira, Florentia Forsti, Asta Fountzilas, George Gerty, Susan M (GENICA) Giles, Graham G Godwin, Andrew K Goodfellow, Paul Graham, Nikki Greco, Dario Hamann, Ute Hankinson, Susan E Hartmann, Arndt Hein, Rebecca Heinz, Judith Holbrook, Andrea Hoover, Robert N Hu, Jennifer J Hunter, David J Ingles, Sue A Irwanto, Astrid Ivanovich, Jennifer John, Esther M Johnson, Nicola Jukkola-Vuorinen, Arja Kaaks, Rudolf Ko, Yon-Dschun Kolonel, Laurence N Konstantopoulou, Irene Kosma, Veli-Matti Kulkarni, Swati Lambrechts, Diether Lee, Adam M Marchand, Loic Le Lesnick, Timothy Liu, Jianjun Lindstrom, Sara Mannermaa, Arto Margolin, Sara Martin, Nicholas G Miron, Penelope Montgomery, Grant W Nevanlinna, Heli Nickels, Stephan Nyante, Sarah Olswold, Curtis Palmer, Julie Pathak, Harsh Pectasides, Dimitrios Perou, Charles M Peto, Julian Pharoah, Paul D P Pooler, Loreall C Press, Michael F Pylkas, Katri Rebbeck, Timothy R Rodriguez-Gil, Jorge L Rosenberg, Lynn Ross, Eric Rudiger, Thomas Silva, Isabel dos Santos Sawyer, Elinor Schmidt, Marjanka K Schulz-Wendtland, Rudiger Schumacher, Fredrick Severi, Gianluca Sheng, Xin Signorello, Lisa B Sinn, Hans-Peter Stevens, Kristen N Southey, Melissa C Tapper, William J Tomlinson, Ian Hogervorst, Frans B L Wauters, Els Weaver, JoEllen Wildiers, Hans Winqvist, Robert Van Den Berg, David Wan, Peggy Xia, Lucy Y Yannoukakos, Drakoulis Zheng, Wei Ziegler, Regina G Siddiq, Afshan Slager, Susan L Stram, Daniel O Easton, Douglas Kraft, Peter Henderson, Brian E Couch, Fergus J eng R25 CA092049/CA/NCI NIH HHS/ P30 CA016086/CA/NCI NIH HHS/ R01 CA128978/CA/NCI NIH HHS/ R01 CA122340-04/CA/NCI NIH HHS/ 090532/WT_/Wellcome Trust/United Kingdom U19 CA148065-02/CA/NCI NIH HHS/ CA148065/CA/NCI NIH HHS/ 10118/CRUK_/Cancer Research UK/United Kingdom R01 CA128978-04/CA/NCI NIH HHS/ CA128978/CA/NCI NIH HHS/ P30 ES010126/ES/NIEHS NIH HHS/ R01 CA092447/CA/NCI NIH HHS/ 11022/CRUK_/Cancer Research UK/United Kingdom CA122340/CA/NCI NIH HHS/ U19 CA148065/CA/NCI NIH HHS/ R01 CA122340/CA/NCI NIH HHS/ Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S. Nat Genet. 2011 Oct 30;43(12):1210-4. doi: 10.1038/ng.985.