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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2011-12

AUTHORS

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 Buring, Lisa 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 Dünnebier, 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, The Gene Environment Interaction and Breast Cancer in Germany Consortium, 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, Loïc 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 Pylkäs, Timothy R Rebbeck, Jorge L Rodriguez-Gil, Lynn Rosenberg, Eric Ross, Thomas Rüdiger, Isabel dos Santos Silva, Elinor Sawyer, Marjanka K Schmidt, Rüdiger 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

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 × 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 × 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations. More... »

PAGES

1210

Journal

TITLE

Nature Genetics

ISSUE

12

VOLUME

43

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng.985

DOI

http://dx.doi.org/10.1038/ng.985

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1044143447

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22037553


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38 schema:description 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 × 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 × 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 × 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.
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