A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer | Zendy

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

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

Author(s) -

Christopher A. Haiman,

Gary K. Chen,

Celine M. Vachon,

Federico Canzian,

Alison M. Dunning,

Robert C. Millikan,

Xianshu Wang,

Foluso O. Ademuyiwa,

Shahana Ahmed,

Christine B. Ambrosone,

Laura Baglietto,

Rosemary L. 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 Carpenter,

Jenny ChangClaude,

Stephen J. Chanock,

Daniel I. Chasman,

Christine L. Clarke,

Angela Cox,

Simon S. Cross,

Sandra L. Deming,

Robert B. Diasio,

Meletios Α. Dimopoulos,

W. Ryan Driver,

Thomas Dünnebier,

Lorraine Durcan,

Diana Eccles,

Christopher K. Edlund,

Arif B. Ekici,

Peter A. Fasching,

Heather Spencer Feigelson,

Dieter FleschJanys,

Florentia Fostira,

Asta Försti,

George Fountzilas,

Susan M. Gerty,

Graham G. Giles,

Andrew K. Godwin,

Paul J. 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 JukkolaVuorinen,

Rudolf Kaaks,

YonDschun Ko,

Laurence N. Kolonel,

Irene Konstantopoulou,

Veli-Matti Kosma,

Swati Kulkarni,

Diether Lambrechts,

Adam M. Lee,

Loı̈c Le Marchand,

Timothy G. Lesnick,

Jianjun Liu,

Sara Lindström,

Graham J. Mann,

Sara Margolin,

Nicholas G. Martin,

Penelope Miron,

Grant W. Montgomery,

Heli Nevanlinna,

Stephan Nickels,

Sarah J. Nyante,

Curtis Olswold,

Julie R. Palmer,

Harsh B. Pathak,

Dimitrios Pectasides,

Charles M. Perou,

Julian Peto,

Paul D.P. Pharoah,

Loreall Pooler,

Michael F. Press,

Katri Pylkäs,

Timothy R. Rebbeck,

Jorge L. RodriguezGil,

Lynn Rosenberg,

Eric A. Ross,

Thomas Rüdiger,

Isabel dosSantosSilva,

Elinor J. Sawyer,

Marjanka K. Schmidt,

Rüdiger SchulzWendtland,

Fredrick R. Schumacher,

Gianluca Severi,

Xin Sheng,

Lisa B. Signorello,

HansPeter Sinn,

Kristen N. Stevens,

Melissa C. Southey,

William Tapper,

Ian Tomlinson,

Frans B.L. Hogervorst,

Els Wauters,

Joellen Weaver,

Hans Wildiers,

Robert Winqvist,

David Van Den Berg,

Peggy Wan,

Lucy Xia,

Drakoulis Yannoukakos,

Wei Zheng,

Regina G. Ziegler,

Afshan Siddiq,

Susan L. Slager,

Daniel O. Stram,

Douglas F. Easton,

Peter Kraft,

Brian E. Henderson,

Fergus J. Couch

Publication year - 2011

Publication title -

nature genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 18.861

H-Index - 573

eISSN - 1546-1718

pISSN - 1061-4036

DOI - 10.1038/ng.985

Subject(s) - breast cancer , locus (genetics) , estrogen receptor , biology , genome wide association study , allele , triple negative breast cancer , odds ratio , genetics , oncology , genotype , cancer , medicine , single nucleotide polymorphism , gene

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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