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

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. BuringLisa 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, 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

Research output: Contribution to journalArticle

209 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1210-1214
Number of pages5
JournalNature Genetics
Volume43
Issue number12
DOIs
StatePublished - Dec 2011

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Estrogen Receptors
Breast Neoplasms
Alleles
Odds Ratio
Genetic Loci
Genome-Wide Association Study
Progesterone Receptors
Epidermal Growth Factor
Chromosomes
Incidence
Population

ASJC Scopus subject areas

  • Genetics

Cite this

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"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; 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.; 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.

In: Nature Genetics, Vol. 43, No. 12, 12.2011, p. 1210-1214.

Research output: Contribution to journalArticle

Haiman, CA, Chen, GK, Vachon, CM, Canzian, F, Dunning, A, Millikan, RC, Wang, X, Ademuyiwa, F, Ahmed, S, Ambrosone, CB, Baglietto, L, Balleine, R, Bandera, EV, Beckmann, MW, Berg, CD, Bernstein, L, Blomqvist, C, Blot, WJ, Brauch, H, Buring, JE, Carey, LA, Carpenter, JE, Chang-Claude, J, Chanock, SJ, Chasman, DI, Clarke, CL, Cox, A, Cross, SS, Deming, SL, Diasio, RB, Dimopoulos, AM, Driver, WR, Dünnebier, T, Durcan, L, Eccles, D, Edlund, CK, Ekici, AB, Fasching, PA, Feigelson, HS, Flesch-Janys, D, Fostira, F, Försti, A, Fountzilas, G, Gerty, SM, Giles, GG, Godwin, AK, Goodfellow, P, Graham, N, Greco, D, Hamann, U, Hankinson, SE, Hartmann, A, Hein, R, Heinz, J, Holbrook, A, Hoover, RN, Hu, JJ, Hunter, DJ, Ingles, SA, Irwanto, A, Ivanovich, J, John, EM, Johnson, N, Jukkola-Vuorinen, A, Kaaks, R, Ko, YD, Kolonel, LN, Konstantopoulou, I, Kosma, VM, Kulkarni, S, Lambrechts, D, Lee, AM, Marchand, LL, Lesnick, T, Liu, J, Lindstrom, S, Mannermaa, A, Margolin, S, Martin, NG, Miron, P, Montgomery, GW, Nevanlinna, H, Nickels, S, Nyante, S, Olswold, C, Palmer, J, Pathak, H, Pectasides, D, Perou, CM, Peto, J, Pharoah, PDP, Pooler, LC, Press, MF, Pylkäs, K, Rebbeck, TR, Rodriguez-Gil, JL, Rosenberg, L, Ross, E, Rüdiger, T, Silva, IDS, Sawyer, E, Schmidt, MK, Schulz-Wendtland, R, Schumacher, F, Severi, G, Sheng, X, Signorello, LB, Sinn, HP, Stevens, KN, Southey, MC, Tapper, WJ, Tomlinson, I, Hogervorst, FBL, Wauters, E, Weaver, J, Wildiers, H, Winqvist, R, Berg, DVD, Wan, P, Xia, LY, Yannoukakos, D, Zheng, W, Ziegler, RG, Siddiq, A, Slager, SL, Stram, DO, Easton, D, Kraft, P, Henderson, BE & Couch, FJ 2011, 'A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"negative breast cancer', Nature Genetics, vol. 43, no. 12, pp. 1210-1214. https://doi.org/10.1038/ng.985
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. ; 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. / A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"negative breast cancer. In: Nature Genetics. 2011 ; Vol. 43, No. 12. pp. 1210-1214.
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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.",
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T1 - A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"negative breast cancer

AU - Haiman, Christopher A.

AU - Chen, Gary K.

AU - Vachon, Celine M

AU - Canzian, Federico

AU - Dunning, Alison

AU - Millikan, Robert C.

AU - Wang, Xianshu

AU - Ademuyiwa, Foluso

AU - Ahmed, Shahana

AU - Ambrosone, Christine B.

AU - Baglietto, Laura

AU - Balleine, Rosemary

AU - Bandera, Elisa V.

AU - Beckmann, Matthias W.

AU - Berg, Christine D.

AU - Bernstein, Leslie

AU - Blomqvist, Carl

AU - Blot, William J.

AU - Brauch, Hiltrud

AU - Buring, Julie E.

AU - Carey, Lisa A.

AU - Carpenter, Jane E.

AU - Chang-Claude, Jenny

AU - Chanock, Stephen J.

AU - Chasman, Daniel I.

AU - Clarke, Christine L.

AU - Cox, Angela

AU - Cross, Simon S.

AU - Deming, Sandra L.

AU - Diasio, Robert B

AU - Dimopoulos, Athanasios M.

AU - Driver, W. Ryan

AU - Dünnebier, Thomas

AU - Durcan, Lorraine

AU - Eccles, Diana

AU - Edlund, Christopher K.

AU - Ekici, Arif B.

AU - Fasching, Peter A.

AU - Feigelson, Heather S.

AU - Flesch-Janys, Dieter

AU - Fostira, Florentia

AU - Försti, Asta

AU - Fountzilas, George

AU - Gerty, Susan M.

AU - Giles, Graham G.

AU - Godwin, Andrew K.

AU - Goodfellow, Paul

AU - Graham, Nikki

AU - Greco, Dario

AU - Hamann, Ute

AU - Hankinson, Susan E.

AU - Hartmann, Arndt

AU - Hein, Rebecca

AU - Heinz, Judith

AU - Holbrook, Andrea

AU - Hoover, Robert N.

AU - Hu, Jennifer J.

AU - Hunter, David J.

AU - Ingles, Sue A.

AU - Irwanto, Astrid

AU - Ivanovich, Jennifer

AU - John, Esther M.

AU - Johnson, Nicola

AU - Jukkola-Vuorinen, Arja

AU - Kaaks, Rudolf

AU - Ko, Yon Dschun

AU - Kolonel, Laurence N.

AU - Konstantopoulou, Irene

AU - Kosma, Veli Matti

AU - Kulkarni, Swati

AU - Lambrechts, Diether

AU - Lee, Adam M.

AU - Marchand, Loïc Le

AU - Lesnick, Timothy

AU - Liu, Jianjun

AU - Lindstrom, Sara

AU - Mannermaa, Arto

AU - Margolin, Sara

AU - Martin, Nicholas G.

AU - Miron, Penelope

AU - Montgomery, Grant W.

AU - Nevanlinna, Heli

AU - Nickels, Stephan

AU - Nyante, Sarah

AU - Olswold, Curtis

AU - Palmer, Julie

AU - Pathak, Harsh

AU - Pectasides, Dimitrios

AU - Perou, Charles M.

AU - Peto, Julian

AU - Pharoah, Paul D P

AU - Pooler, Loreall C.

AU - Press, Michael F.

AU - Pylkäs, Katri

AU - Rebbeck, Timothy R.

AU - Rodriguez-Gil, Jorge L.

AU - Rosenberg, Lynn

AU - Ross, Eric

AU - Rüdiger, Thomas

AU - Silva, Isabel Dos Santos

AU - Sawyer, Elinor

AU - Schmidt, Marjanka K.

AU - Schulz-Wendtland, Rüdiger

AU - Schumacher, Fredrick

AU - Severi, Gianluca

AU - Sheng, Xin

AU - Signorello, Lisa B.

AU - Sinn, Hans Peter

AU - Stevens, Kristen N.

AU - Southey, Melissa C.

AU - Tapper, William J.

AU - Tomlinson, Ian

AU - Hogervorst, Frans B L

AU - Wauters, Els

AU - Weaver, Joellen

AU - Wildiers, Hans

AU - Winqvist, Robert

AU - Berg, David Van Den

AU - Wan, Peggy

AU - Xia, Lucy Y.

AU - Yannoukakos, Drakoulis

AU - Zheng, Wei

AU - Ziegler, Regina G.

AU - Siddiq, Afshan

AU - Slager, Susan L

AU - Stram, Daniel O.

AU - Easton, Douglas

AU - Kraft, Peter

AU - Henderson, Brian E.

AU - Couch, Fergus J

PY - 2011/12

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N2 - 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.

AB - 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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