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. 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; 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

doi:10.1038/ng.985

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

Experimental and Clinical Pharmacology

Research output: Contribution to journal › Article › peer-review

252 Scopus citations

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 language	English (US)
Pages (from-to)	1210-1214
Number of pages	5
Journal	Nature Genetics
Volume	43
Issue number	12
DOIs	https://doi.org/10.1038/ng.985
State	Published - Dec 2011

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Haiman, C. A., Chen, G. K., Vachon, C. M., Canzian, F., Dunning, A., Millikan, R. C., Wang, X., Ademuyiwa, F., Ahmed, S., Ambrosone, C. B., Baglietto, L., Balleine, R., Bandera, E. V., Beckmann, M. W., Berg, C. D., Bernstein, L., Blomqvist, C., Blot, W. J., Brauch, H., ... Couch, F. J. (2011). A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€"negative breast cancer. Nature Genetics, 43(12), 1210-1214. https://doi.org/10.1038/ng.985

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

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title = "A common variant at the TERT-CLPTM1L locus is associated with estrogen receptorĝ€{"}negative breast cancer",

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.",

author = "Haiman, {Christopher A.} and Chen, {Gary K.} and Vachon, {Celine M.} and Federico Canzian and Alison Dunning and Millikan, {Robert C.} and Xianshu Wang and Foluso Ademuyiwa and Shahana Ahmed and Ambrosone, {Christine B.} and Laura Baglietto and Rosemary Balleine and Bandera, {Elisa V.} and Beckmann, {Matthias W.} and Berg, {Christine D.} and Leslie Bernstein and Carl Blomqvist and Blot, {William J.} and Hiltrud Brauch and Buring, {Julie E.} and Carey, {Lisa A.} and Carpenter, {Jane E.} and Jenny Chang-Claude and Chanock, {Stephen J.} and Chasman, {Daniel I.} and Clarke, {Christine L.} and Angela Cox and Cross, {Simon S.} and Deming, {Sandra L.} and Diasio, {Robert B.} and Dimopoulos, {Athanasios M.} and Driver, {W. Ryan} and Thomas D{\"u}nnebier and Lorraine Durcan and Diana Eccles and Edlund, {Christopher K.} and Ekici, {Arif B.} and Fasching, {Peter A.} and Feigelson, {Heather S.} and Dieter Flesch-Janys and Florentia Fostira and Asta F{\"o}rsti and George Fountzilas and Gerty, {Susan M.} and Giles, {Graham G.} and Godwin, {Andrew K.} and Paul Goodfellow and Nikki Graham and Dario Greco and Ute Hamann and Hankinson, {Susan E.} and Arndt Hartmann and Rebecca Hein and Judith Heinz and Andrea Holbrook and Hoover, {Robert N.} and Hu, {Jennifer J.} and Hunter, {David J.} and Ingles, {Sue A.} and Astrid Irwanto and Jennifer Ivanovich and John, {Esther M.} and Nicola Johnson and Arja Jukkola-Vuorinen and Rudolf Kaaks and Ko, {Yon Dschun} and Kolonel, {Laurence N.} and Irene Konstantopoulou and Kosma, {Veli Matti} and Swati Kulkarni and Diether Lambrechts and Lee, {Adam M.} and Marchand, {Lo{\"i}c Le} and Timothy Lesnick and Jianjun Liu and Sara Lindstrom and Arto Mannermaa and Sara Margolin and Martin, {Nicholas G.} and Penelope Miron and Montgomery, {Grant W.} and Heli Nevanlinna and Stephan Nickels and Sarah Nyante and Curtis Olswold and Julie Palmer and Harsh Pathak and Dimitrios Pectasides and Perou, {Charles M.} and Julian Peto and Pharoah, {Paul D P} and Pooler, {Loreall C.} and Press, {Michael F.} and Katri Pylk{\"a}s and Rebbeck, {Timothy R.} and Rodriguez-Gil, {Jorge L.} and Lynn Rosenberg and Eric Ross and Thomas R{\"u}diger and Silva, {Isabel Dos Santos} and Elinor Sawyer and Schmidt, {Marjanka K.} and R{\"u}diger Schulz-Wendtland and Fredrick Schumacher and Gianluca Severi and Xin Sheng and Signorello, {Lisa B.} and Sinn, {Hans Peter} and Stevens, {Kristen N.} and Southey, {Melissa C.} and Tapper, {William J.} and Ian Tomlinson and Hogervorst, {Frans B L} and Els Wauters and Joellen Weaver and Hans Wildiers and Robert Winqvist and Berg, {David Van Den} and Peggy Wan and Xia, {Lucy Y.} and Drakoulis Yannoukakos and Wei Zheng and Ziegler, {Regina G.} and Afshan Siddiq and Slager, {Susan L.} and Stram, {Daniel O.} and Douglas Easton and Peter Kraft and Henderson, {Brian E.} and Couch, {Fergus J.}",

year = "2011",

month = dec,

doi = "10.1038/ng.985",

language = "English (US)",

volume = "43",

pages = "1210--1214",

journal = "Nature Genetics",

issn = "1061-4036",

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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

Y1 - 2011/12

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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UR - http://www.scopus.com/inward/citedby.url?scp=82255183150&partnerID=8YFLogxK

U2 - 10.1038/ng.985

DO - 10.1038/ng.985

M3 - Article

C2 - 22037553

AN - SCOPUS:82255183150

SN - 1061-4036

VL - 43

SP - 1210

EP - 1214

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -

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

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