@article{3151591,
    title = "A common variant at the TERT-CLPTM1L locus is associated with estrogen
receptor-negative breast cancer",
    author = "Haiman, Christopher A. and Chen, Gary K. and Vachon, Celine M. and and Canzian, Federico and Dunning, Alison and Millikan, Robert C. and Wang, and Xianshu and Ademuyiwa, Foluso and Ahmed, Shahana and Ambrosone, and Christine B. and Baglietto, Laura and Balleine, Rosemary and Bandera, and Elisa V. and Beckmann, Matthias W. and Berg, Christine D. and Bernstein, and Leslie and Blomqvist, Carl and Blot, William J. and Brauch, Hiltrud and and Buring, Julie E. and Carey, Lisa A. and Carpenter, Jane E. and and Chang-Claude, Jenny and Chanock, Stephen J. and Chasman, Daniel I. and and Clarke, Christine L. and Cox, Angela and Cross, Simon S. and Deming, and Sandra L. and Diasio, Robert B. and Dimopoulos, Athanasios M. and and Driver, W. Ryan and Duennebier, Thomas and Durcan, Lorraine and Eccles, and Diana and Edlund, Christopher K. and Ekici, Arif B. and Fasching, Peter and A. and Feigelson, Heather S. and Flesch-Janys, Dieter and Fostira, and Florentia and Foersti, Asta and Fountzilas, George and Gerty, Susan M. and and Giles, Graham G. and Godwin, Andrew K. and Goodfellow, Paul and and Graham, Nikki and Greco, Dario and Hamann, Ute and Hankinson, Susan E. and and Hartmann, Arndt and Hein, Rebecca and Heinz, Judith and Holbrook, and Andrea and Hoover, Robert N. and Hu, Jennifer J. and Hunter, David J. and and Ingles, Sue A. and Irwanto, Astrid and Ivanovich, Jennifer and John, and Esther M. and Johnson, Nicola and Jukkola-Vuorinen, Arja and Kaaks, and Rudolf and Ko, Yon-Dschun and Kolonel, Laurence N. and Konstantopoulou, and Irene and Kosma, Veli-Matti and Kulkarni, Swati and Lambrechts, Diether and and Lee, Adam M. and Le Marchand, Loic and Lesnick, Timothy and Liu, and Jianjun and Lindstrom, Sara and Mannermaa, Arto and Margolin, Sara and and Martin, Nicholas G. and Miron, Penelope and Montgomery, Grant W. and and Nevanlinna, Heli and Nickels, Stephan and Nyante, Sarah and Olswold, and Curtis and Palmer, Julie and Pathak, Harsh and Pectasides, Dimitrios and and Perou, Charles M. and Peto, Julian and Pharoah, Paul D. P. and Pooler, and Loreall C. and Press, Michael F. and Pylkas, Katri and Rebbeck, Timothy and R. and Rodriguez-Gil, Jorge L. and Rosenberg, Lynn and Ross, Eric and and Ruediger, Thomas and Silva, Isabel dos Santos and Sawyer, Elinor and and Schmidt, Marjanka K. and Schulz-Wendtland, Ruediger and Schumacher, and Fredrick and Severi, Gianluca and Sheng, Xin and Signorello, Lisa B. and and Sinn, Hans-Peter and Stevens, Kristen N. and Southey, Melissa C. and and Tapper, William J. and Tomlinson, Ian and Hogervorst, Frans B. L. and and Wauters, Els and Weaver, JoEllen and Wildiers, Hans and Winqvist, Robert and and Van Den Berg, David and Wan, Peggy and Xia, Lucy Y. and Yannoukakos, and Drakoulis and Zheng, Wei and Ziegler, Regina G. and Siddiq, Afshan and and Slager, Susan L. and Stram, Daniel O. and Easton, Douglas and Kraft, and Peter and Henderson, Brian E. and Couch, Fergus J. and Gene Environm and Interaction Breast C",
    journal = "Nature Genetics",
    year = "2011",
    volume = "43",
    number = "12",
    pages = "1210-U61",
    publisher = "Nature Publishing Group",
    issn = "1061-4036, 1546-1718",
    doi = "10.1038/ng.985",
    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."
}