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

Haiman, Christopher A.; Chen, Gary K.; Vachon, Celine M.; Canzian, Federico; Dunning, Alison; Millikan, Robert C.; Wang, Xianshu; Ademuyiwa, Foluso; Ahmed, Shahana and Ambrosone, Christine B., et al. (2011) In Nature Genetics 43(12). p.61-1210
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... (More)
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. (Less)
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Nature Genetics
volume
43
issue
12
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61 - 1210
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Nature Publishing Group
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  • wos:000297931400013
  • scopus:82255183150
ISSN
1546-1718
DOI
10.1038/ng.985
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English
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@article{ab2c0c7b-2a25-495f-98ed-29e450e8d695,
  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 (&lt;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.},
  author       = {Haiman, Christopher A. and Chen, Gary K. and Vachon, Celine M. and Canzian, Federico and Dunning, Alison and Millikan, Robert C. and Wang, Xianshu and Ademuyiwa, Foluso and Ahmed, Shahana and Ambrosone, Christine B. and Baglietto, Laura and Balleine, Rosemary and Bandera, Elisa V. and Beckmann, Matthias W. and Berg, Christine D. and Bernstein, Leslie and Blomqvist, Carl and Blot, William J. and Brauch, Hiltrud and Buring, Julie E. and Carey, Lisa A. and Carpenter, Jane E. and Chang-Claude, Jenny and Chanock, Stephen J. and Chasman, Daniel I. and Clarke, Christine L. and Cox, Angela and Cross, Simon S. and Deming, Sandra L. and Diasio, Robert B. and Dimopoulos, Athanasios M. and Driver, W. Ryan and Duennebier, Thomas and Durcan, Lorraine and Eccles, Diana and Edlund, Christopher K. and Ekici, Arif B. and Fasching, Peter A. and Feigelson, Heather S. and Flesch-Janys, Dieter and Fostira, Florentia and Försti, Asta and Fountzilas, George and Gerty, Susan M. and Giles, Graham G. and Godwin, Andrew K. and Goodfellow, Paul and Graham, Nikki and Greco, Dario and Hamann, Ute and Hankinson, Susan E. and Hartmann, Arndt and Hein, Rebecca and Heinz, Judith and Holbrook, Andrea and Hoover, Robert N. and Hu, Jennifer J. and Hunter, David J. and Ingles, Sue A. and Irwanto, Astrid and Ivanovich, Jennifer and John, Esther M. and Johnson, Nicola and Jukkola-Vuorinen, Arja and Kaaks, Rudolf and Ko, Yon-Dschun and Kolonel, Laurence N. and Konstantopoulou, Irene and Kosma, Veli-Matti and Kulkarni, Swati and Lambrechts, Diether and Lee, Adam M. and Le Marchand, Loic and Lesnick, Timothy and Liu, Jianjun and Lindstrom, Sara and Mannermaa, Arto and Margolin, Sara and Martin, Nicholas G. and Miron, Penelope and Montgomery, Grant W. and Nevanlinna, Heli and Nickels, Stephan and Nyante, Sarah and Olswold, Curtis and Palmer, Julie and Pathak, Harsh and Pectasides, Dimitrios and Perou, Charles M. and Peto, Julian and Pharoah, Paul D. P. and Pooler, Loreall C. and Press, Michael F. and Pylkas, Katri and Rebbeck, Timothy R. and Rodriguez-Gil, Jorge L. and Rosenberg, Lynn and Ross, Eric and Ruediger, Thomas and Silva, Isabel dos Santos and Sawyer, Elinor and Schmidt, Marjanka K. and Schulz-Wendtland, Ruediger and Schumacher, Fredrick and Severi, Gianluca and Sheng, Xin and Signorello, Lisa B. and Sinn, Hans-Peter and Stevens, Kristen N. and Southey, Melissa C. and Tapper, William J. and Tomlinson, Ian and Hogervorst, Frans B. L. and Wauters, Els and Weaver, JoEllen and Wildiers, Hans and Winqvist, Robert and Van Den Berg, David and Wan, Peggy and Xia, Lucy Y. and Yannoukakos, Drakoulis and Zheng, Wei and Ziegler, Regina G. and Siddiq, Afshan and Slager, Susan L. and Stram, Daniel O. and Easton, Douglas and Kraft, Peter and Henderson, Brian E. and Couch, Fergus J.},
  issn         = {1546-1718},
  language     = {eng},
  number       = {12},
  pages        = {61--1210},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer},
  url          = {http://dx.doi.org/10.1038/ng.985},
  volume       = {43},
  year         = {2011},
}