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Title: A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
Authors: 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
Dünnebier, Thomas
Durcan, Lorraine
Eccles, Diana
Edlund, Christopher K
Ekici, Arif B
Fasching, Peter A
Feigelson, Heather S
Flesch-Janys, Dieter
Fostira, Florentia
Försti, Asta
Fountzilas, George
Gerty, Susan M
The Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium
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, Loïc 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
Pylkäs, Katri
Rebbeck, Timothy R
Rodriguez-Gil, Jorge L
Rosenberg, Lynn
Ross, Eric
Rüdiger, Thomas
Silva, Isabel Dos Santos
Sawyer, Elinor
Schmidt, Marjanka K
Schulz-Wendtland, Rüdiger
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
Berg, David Van Den
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 # ×
Issue Date: Oct-2011
Publisher: Nature Publishing Group
Series Title: Nature Genetics vol:43 issue:12 pages:1210-1214
Article number: 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 × 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.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Vesalius Research Centre (-)
Laboratory of Experimental Oncology
Laboratory of Translational Genetics (Vesalius Research Center) (+)
× corresponding author
# (joint) last author

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