A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer
A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer
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.
1210-1214
Haiman, Christopher A.
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Chen, Gary K.
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Vachon, Celine M.
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Canzian, Federico
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Dunning, Alison
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Millikan, Robert C.
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Wang, Xianshu
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Ademuyiwa, Foluso
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Ahmed, Shahana
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Ambrosone, Christine B.
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Baglietto, Laura
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Balleine, Rosemary
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Bandera, Elisa V.
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Beckmann, Matthias W.
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Berg, Christine D.
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Bernstein, Leslie
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Blomqvist, Carl
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Brauch, Hiltrud
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Buring, Julie E.
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Carey, Lisa A.
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Chang-Claude, Jenny
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Chanock, Stephen J.
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Chasman, Daniel I.
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Cox, Angela
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Deming, Sandra L.
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Diasio, Robert B.
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Dimopoulos, Athanasios M.
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Ekici, Arif B.
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Fasching, Peter A.
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Flesch-Janys, Dieter
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Fostira, Florentia
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Giles, Graham G.
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Hamann, Ute
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Hankinson, Susan E.
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Hartmann, Arndt
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Hein, Rebecca
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Holbrook, Andrea
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Hu, Jennifer J.
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Hunter, David J.
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Ivanovich, Jennifer
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Kulkarni, Swati
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Lambrechts, Diether
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Lee, Adam M.
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Marchand, Loïc Le
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Lesnick, Timothy
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Liu, Jianjun
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Lindstrom, Sara
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Martin, Nicholas G.
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Miron, Penelope
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Montgomery, Grant W.
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Nevanlinna, Heli
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Nickels, Stephan
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Nyante, Sarah
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Olswold, Curtis
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Palmer, Julie
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Pathak, Harsh
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Pectasides, Dimitrios
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Perou, Charles M.
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Peto, Julian
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Pharoah, Paul D.P.
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Pooler, Loreall C.
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Press, Michael F.
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Pylkäs, Katri
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Rebbeck, Timothy R.
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Rodriguez-Gil, Jorge L.
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Rosenberg, Lynn
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Ross, Eric
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Rüdiger, Thomas
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Silva, Isabel dos Santos
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Sawyer, Elinor
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Schmidt, Marjanka K.
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Schulz-Wendtland, Rüdiger
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Schumacher, Fredrick
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Severi, Gianluca
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Sheng, Xin
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Signorello, Lisa B.
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Southey, Melissa C.
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Tapper, William J.
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Tomlinson, Ian
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Hogervorst, Frans B.L.
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Wauters, Els
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Weaver, JoEllen
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Wildiers, Hans
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Winqvist, Robert
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Berg, David Van Den
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Wan, Peggy
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Xia, Lucy Y.
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Yannoukakos, Drakoulis
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Zheng, Wei
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Ziegler, Regina G.
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Siddiq, Afshan
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Slager, Susan L.
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Stram, Daniel O.
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Easton, Douglas
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Kraft, Peter
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Henderson, Brian E.
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Couch, Fergus J.
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December 2011
Haiman, Christopher A.
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Chen, Gary K.
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Vachon, Celine M.
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Dunning, Alison
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Millikan, Robert C.
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Wang, Xianshu
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Ademuyiwa, Foluso
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Ahmed, Shahana
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Ambrosone, Christine B.
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Baglietto, Laura
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Balleine, Rosemary
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Bandera, Elisa V.
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Beckmann, Matthias W.
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Bernstein, Leslie
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Blomqvist, Carl
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Blot, William J.
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Brauch, Hiltrud
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Buring, Julie E.
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Cox, Angela
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Deming, Sandra L.
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Diasio, Robert B.
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Jukkola-Vuorinen, Arja
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Pathak, Harsh
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Pectasides, Dimitrios
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Perou, Charles M.
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Peto, Julian
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Pharoah, Paul D.P.
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Pooler, Loreall C.
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Press, Michael F.
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Rebbeck, Timothy R.
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Rodriguez-Gil, Jorge L.
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Rosenberg, Lynn
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Ross, Eric
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Rüdiger, Thomas
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Silva, Isabel dos Santos
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Sawyer, Elinor
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Schmidt, Marjanka K.
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Schulz-Wendtland, Rüdiger
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Schumacher, Fredrick
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Severi, Gianluca
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Sheng, Xin
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Signorello, Lisa B.
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Sinn, Hans-Peter
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Stevens, Kristen N.
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Southey, Melissa C.
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Tapper, William J.
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Tomlinson, Ian
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Hogervorst, Frans B.L.
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Wauters, Els
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Weaver, JoEllen
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Wildiers, Hans
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Winqvist, Robert
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Berg, David Van Den
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Wan, Peggy
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Xia, Lucy Y.
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Yannoukakos, Drakoulis
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Zheng, Wei
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Ziegler, Regina G.
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Siddiq, Afshan
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Slager, Susan L.
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Stram, Daniel O.
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Easton, Douglas
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Kraft, Peter
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Henderson, Brian E.
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Couch, Fergus J.
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