A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-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 Duennebier; Lorraine Durcan; Diana Eccles; Christopher K. Edlund; Arif B. Ekici; Peter A. Fasching; Heather S. Feigelson; Dieter Flesch-Janys; Florentia Fostira; Asta Foersti; 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; Loic 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 Pylkas; Timothy R. Rebbeck; Jorge L. Rodriguez-Gil; Lynn Rosenberg; Eric Ross; Thomas Ruediger; Isabel dos Santos Silva; Elinor Sawyer; Marjanka K. Schmidt; Ruediger 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; Gene Environm Interaction Breast C

doi:10.1038/ng.985

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

Journal article

Peer reviewed

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-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, …

Nature genetics, Vol.43(12), pp.1210-U61

2011-12-01

DOI: https://doi.org/10.1038/ng.985

PMCID: PMC3279120

PMID: 22037553

Abstract

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

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 x 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 x 10(-9)), particularly in younger women (<50 years of age) (OR = 1.48, P = 1.9 x 10(-9)). Our results identify a genetic locus associated with estrogen receptor negative breast cancer subtypes in multiple populations.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.189 Genome Studies; 1.189.597 BRCA1
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
Creators: Christopher A. Haiman - University of Southern California
Gary K. Chen - University of Southern California
Celine M. Vachon - Mayo Clinic
Federico Canzian - German Cancer Research Center
Alison Dunning - Strangeways Lab, Ctr Canc Genet Epidemiol, Cambridge, England
Robert C. Millikan - University of North Carolina at Chapel Hill
Xianshu Wang - Mayo Clinic
Foluso Ademuyiwa - Roswell Park Cancer Institute
Shahana Ahmed - Strangeways Lab, Ctr Canc Genet Epidemiol, Cambridge, England
Christine B. Ambrosone - Roswell Park Cancer Institute
Laura Baglietto - University of Melbourne
Rosemary Balleine - Westmead Hospital
Elisa V. Bandera - Rutgers, The State University of New Jersey
Matthias W. Beckmann - Friedrich-Alexander-Universität Erlangen-Nürnberg
Christine D. Berg - National Institutes of Health
Leslie Bernstein - City Of Hope National Medical Center
Carl Blomqvist - University of Helsinki
William J. Blot - Vanderbilt University
Hiltrud Brauch - University of Tübingen
Julie E. Buring - Harvard University
Lisa A. Carey - University of North Carolina at Chapel Hill
Jane E. Carpenter - University of Sydney
Jenny Chang-Claude - German Cancer Research Center
Stephen J. Chanock - National Institutes of Health
Daniel I. Chasman - Harvard University
Christine L. Clarke - University of Sydney
Angela Cox - University of Sheffield
Simon S. Cross - University of Sheffield
Sandra L. Deming - Vanderbilt University
Robert B. Diasio - Mayo Clinic
Athanasios M. Dimopoulos - National and Kapodistrian University of Athens
W. Ryan Driver - American Cancer Society
Thomas Duennebier
Lorraine Durcan - Princess Anne Hospital
Diana Eccles - Princess Anne Hospital
Christopher K. Edlund - University of Southern California
Arif B. Ekici - Friedrich-Alexander-Universität Erlangen-Nürnberg
Peter A. Fasching - University of California, Los Angeles
Heather S. Feigelson - Kaiser Permanente
Dieter Flesch-Janys - Universität Hamburg
Florentia Fostira - National Centre of Scientific Research "Demokritos"
Asta Foersti - Heidelberg
George Fountzilas - Aristotle University of Thessaloniki
Susan M. Gerty - Princess Anne Hospital
Graham G. Giles - University of Melbourne
Andrew K. Godwin - University of Kansas
Paul Goodfellow - Washington University in St. Louis
Nikki Graham - Princess Anne Hospital
Dario Greco - University of Helsinki
Ute Hamann - German Cancer Research Center
Susan E. Hankinson - Harvard University
Arndt Hartmann - Friedrich-Alexander-Universität Erlangen-Nürnberg
Rebecca Hein - German Cancer Research Center
Judith Heinz - Universität Hamburg
Andrea Holbrook - University of Southern California
Robert N. Hoover - National Institutes of Health
Jennifer J. Hu - University of Miami
David J. Hunter - Harvard University
Sue A. Ingles - University of Southern California
Astrid Irwanto - Agency for Science, Technology and Research
Jennifer Ivanovich - Washington University in St. Louis
Esther M. John - Stanford University
Nicola Johnson - Breakthrough
Arja Jukkola-Vuorinen - University of Oulu
Rudolf Kaaks - German Cancer Research Center
Yon-Dschun Ko - Evangel Kliniken Johanniter & Waldkrankenhaus Bon, Dept Internal Med, Bonn, Germany
Laurence N. Kolonel - University of Hawaiʻi at Mānoa
Irene Konstantopoulou - National Centre of Scientific Research "Demokritos"
Veli-Matti Kosma - University of Eastern Finland
Swati Kulkarni - Roswell Park Cancer Institute
Diether Lambrechts - KU Leuven
Adam M. Lee - Mayo Clinic in Florida
Loic Le Marchand - University of Hawaiʻi at Mānoa
Timothy Lesnick - Mayo Clinic
Jianjun Liu - Agency for Science, Technology and Research
Sara Lindstrom - Harvard University
Arto Mannermaa - University of Eastern Finland
Sara Margolin - Karolinska Institutet
Nicholas G. Martin - QIMR Berghofer Medical Research Institute
Penelope Miron - Harvard University
Grant W. Montgomery - QIMR Berghofer Medical Research Institute
Heli Nevanlinna - University of Helsinki
Stephan Nickels - German Cancer Research Center
Sarah Nyante - University of North Carolina at Chapel Hill
Curtis Olswold - Mayo Clinic
Julie Palmer - Boston University
Harsh Pathak - Fox Chase Cancer Center
Dimitrios Pectasides - Hippokrateion Hosp, Dept Internal Med, Oncol Sect, Athens, Greece
Charles M. Perou - University of North Carolina at Chapel Hill
Julian Peto - University of Oulu
Paul D. P. Pharoah - Strangeways Lab, Ctr Canc Genet Epidemiol, Cambridge, England
Loreall C. Pooler - University of Southern California
Michael F. Press - University of Southern California
Katri Pylkas - University of Oulu
Timothy R. Rebbeck - University of Pennsylvania
Jorge L. Rodriguez-Gil - University of Miami
Lynn Rosenberg - Boston University
Eric Ross - Fox Chase Cancer Center
Thomas Ruediger - Stadt Klinikum Karlsruhe, Inst Pathol, Karlsruhe, Germany
Isabel dos Santos Silva - Supreme Council Of Health
Elinor Sawyer - Guy's and St Thomas' NHS Foundation Trust
Marjanka K. Schmidt - Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Div Epidemiol, Amsterdam, Netherlands
Ruediger Schulz-Wendtland - Univ Erlangen Nurnberg, Inst Pathol, Univ Hosp Erlangen, Erlangen, Germany
Fredrick Schumacher - University of Southern California
Gianluca Severi - University of Melbourne
Xin Sheng - University of Southern California
Lisa B. Signorello - Vanderbilt University
Hans-Peter Sinn - Heidelberg University
Kristen N. Stevens - Mayo Clinic
Melissa C. Southey - University of Melbourne
William J. Tapper - Princess Anne Hospital
Ian Tomlinson - University of Oxford
Frans B. L. Hogervorst - Antoni van Leeuwenhoek Hosp, Netherlands Canc Inst, Family Canc Clin, Amsterdam, Netherlands
Els Wauters - KU Leuven
JoEllen Weaver - Fox Chase Cancer Center
Hans Wildiers - KU Leuven
Robert Winqvist - University of Oulu
David Van Den Berg - University of Southern California
Peggy Wan - University of Southern California
Lucy Y. Xia - University of Southern California
Drakoulis Yannoukakos - National Centre of Scientific Research "Demokritos"
Wei Zheng - Vanderbilt University
Regina G. Ziegler - National Institutes of Health
Afshan Siddiq - Imperial College London
Susan L. Slager - Mayo Clinic in Florida
Daniel O. Stram - University of Southern California
Douglas Easton - Strangeways Lab, Ctr Canc Genet Epidemiol, Cambridge, England
Peter Kraft - Harvard University
Brian E. Henderson - University of Southern California
Fergus J. Couch - Mayo Clinic
Gene Environm Interaction Breast C
Publication Details: Nature genetics, Vol.43(12), pp.1210-U61
Publisher: Springer Nature
Number of pages: 6
Grant note: P30ES010126 / NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Environmental Health Sciences (NIEHS) Norris Foundation CA128978; CA122340; CA148065 / US National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA Komen Foundation for the Cure; Susan G. Komen Breast Cancer Foundation 03/DHCS/03/G121/51 / National Institute for Health Research; National Institute for Health Research (NIHR) Breast Cancer Research Foundation R01CA122340 / NATIONAL CANCER INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Cancer Institute (NCI) 10118 / Cancer Research UK Mayo Clinic College of Medicine W81XWH-08-1-0383 / US Department of Defense; United States Department of Defense
Academic Unit: Miller School of Medicine; UMMG Department of Public Health Sciences Research
Language: English
Resource Type: Journal article
PMID: 22037553
PMCID: PMC3279120
Record Identifier: 991031725566802976