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

References

1. Carey, L.A. et al. Race, breast cancer subtypes, and survival in the Carolina Breast Cancer Study. J. Am. Med. Assoc. 295, 2492–2502 (2006).
   Article CAS Google Scholar
2. Huo, D. et al. Population differences in breast cancer: survey in indigenous African women reveals over-representation of triple-negative breast cancer. J. Clin. Oncol. 27, 4515–4521 (2009).
   Article CAS Google Scholar
3. Sørlie, T. et al. Gene expression patterns of breast carcinomas distinguish tumor subclasses with clinical implications. Proc. Natl. Acad. Sci. USA 98, 10869–10874 (2001).
   Article Google Scholar
4. Antoniou, A.C. et al. A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat. Genet. 42, 885–892 (2010).
   Article CAS Google Scholar
5. Easton, D.F. et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447, 1087–1093 (2007).
   Article CAS Google Scholar
6. Haiman, C.A. et al. A common genetic risk factor for colorectal and prostate cancer. Nat. Genet. 39, 954–956 (2007).
   Article CAS Google Scholar
7. Kiemeney, L.A. et al. Sequence variant on 8q24 confers susceptibility to urinary bladder cancer. Nat. Genet. 40, 1307–1312 (2008).
   Article CAS Google Scholar
8. Purdue, M.P. et al. Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat. Genet. 43, 60–65 (2011).
   Article CAS Google Scholar
9. Thomas, G. et al. Multiple loci identified in a genome-wide association study of prostate cancer. Nat. Genet. 40, 310–315 (2008).
   Article CAS Google Scholar
10. Turnbull, C. et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat. Genet. 42, 504–507 (2010).
    Article CAS Google Scholar
11. Baird, D.M. Variation at the TERT locus and predisposition for cancer. Expert Rev. Mol. Med. 12, e16 (2010).
    Article Google Scholar
12. Johnatty, S.E. et al. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility “hot-spot”. PLoS Genet. 6, e1001016 (2010).
    Article Google Scholar
13. McKay, J.D. et al. Lung cancer susceptibility locus at 5p15.33. Nat. Genet. 40, 1404–1406 (2008).
    Article CAS Google Scholar
14. Shete, S. et al. Genome-wide association study identifies five susceptibility loci for glioma. Nat. Genet. 41, 899–904 (2009).
    Article CAS Google Scholar
15. Bolton, K.L. et al. Common variants at 19p13 are associated with susceptibility to ovarian cancer. Nat. Genet. 42, 880–884 (2010).
    Article CAS Google Scholar

Download references

Acknowledgements

This work was supported by a US Department of Defense Breast Cancer Research Program Era of Hope Scholar Award to C.A.H. (W81XWH-08-1-0383), the Norris Foundation, the Mayo Clinic College of Medicine, Komen Foundation for the Cure, the Breast Cancer Research Foundation and US National Institutes of Health grants CA128978, CA122340 and CA148065. Study specific acknowledgments are listed in the Supplementary Note.

Author information

Authors and Affiliations

1. Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, California, USA
   Christopher A Haiman, Gary K Chen, Christopher K Edlund, Andrea Holbrook, Sue A Ingles, Loreall C Pooler, Fredrick Schumacher, Xin Sheng, David Van Den Berg, Peggy Wan, Lucy Y Xia, Daniel O Stram & Brian E Henderson
2. Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, USA
   Celine M Vachon, Timothy Lesnick, Curtis Olswold, Kristen N Stevens, Susan L Slager & Fergus J Couch
3. Genomic Epidemiology Group, DKFZ, Heidelberg, Germany
   Federico Canzian
4. Centre for Cancer Genetic Epidemiology, Strangeways Laboratory, Worts Causeway, Cambridge, UK
   Alison Dunning, Shahana Ahmed, Paul D P Pharoah & Douglas Easton
5. Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA
   Robert C Millikan & Sarah Nyante
6. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA
   Xianshu Wang & Fergus J Couch
7. Department of Medicine, Roswell Park Cancer Institute, Buffalo, New York, USA
   Foluso Ademuyiwa
8. Department of Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York, USA
   Christine B Ambrosone
9. Cancer Epidemiology Centre, The Cancer Council Victoria & Centre for Molecular, Environmental, Genetic, and Analytic Epidemiology, The University of Melbourne, Victoria, Australia.,
   Laura Baglietto, Graham G Giles & Gianluca Severi
10. Department of Translational Oncology, Westmead Hospital, Western Sydney Local Health Network, Westmead, New South Wales, Australia
    Rosemary Balleine
11. The Cancer Institute of New Jersey, New Brunswick, New Jersey, USA
    Elisa V Bandera
12. Department of Gynecology and Obstetrics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
    Matthias W Beckmann & Peter A Fasching
13. Division of Cancer Prevention, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Christine D Berg
14. Division of Cancer Etiology, Department of Population Science, Beckman Research Institute, City of Hope, California, USA
    Leslie Bernstein
15. Department of Oncology, Helsinki University Central Hospital, Helsinki, Finland
    Carl Blomqvist
16. Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center and Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee, USA
    William J Blot, Sandra L Deming, Lisa B Signorello & Wei Zheng
17. International Epidemiology Institute, Rockville, Maryland, USA
    William J Blot & Lisa B Signorello
18. Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart, Germany
    Hiltrud Brauch
19. University of Tübingen, Tübingen, Germany
    Hiltrud Brauch
20. Division of Preventive Medicine, Brigham and Women's Hospital, Boston, Massachusetts, USA
    Julie E Buring & Daniel I Chasman
21. Department of Medicine, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina, USA
    Lisa A Carey
22. Australian Breast Cancer Tissue Bank, University of Sydney at the Westmead Millennium Institute, Westmead, New South Wales, Australia
    Jane E Carpenter & Christine L Clarke
23. Division of Cancer Epidemiology, German Cancer Research Center, Heidelberg, Germany
    Jenny Chang-Claude, Rebecca Hein & Stephan Nickels
24. Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Stephen J Chanock, Robert N Hoover & Regina G Ziegler
25. Department of Oncology, Institute for Cancer Studies, Faculty of Medicine, Dentistry & Health, University of Sheffield, Sheffield, UK
    Angela Cox
26. Department of Neuroscience, Academic Unit of Pathology, Faculty of Medicine, Dentistry & Health, University of Sheffield, Sheffield, UK
    Simon S Cross
27. Department of Pharmacology, Mayo Clinic, Rochester, Minnesota, USA
    Robert B Diasio & Adam M Lee
28. Department of Clinical Therapeutics, “Alexandra” Hospital, University of Athens School of Medicine, Athens, Greece
    Athanasios M Dimopoulos
29. Epidemiology Research Program, American Cancer Society, Atlanta, Georgia, USA
    W Ryan Driver
30. Molecular Genetics of Breast Cancer, DKFZ, Heidelberg, Germany
    Thomas Dünnebier & Ute Hamann
31. Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
    Lorraine Durcan, Diana Eccles, Susan M Gerty, Nikki Graham & William J Tapper
32. Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany
    Arif B Ekici
33. Department of Medicine, Division of Hematology and Oncology, David Geffen School of Medicine, University of California–Los Angeles, Los Angeles, California, USA
    Peter A Fasching
34. Kaiser Permanente Colorado, Denver, Colorado, USA
    Heather S Feigelson
35. Institute for Medical Biometrics and Epidemiology, University Clinic Hamburg-Eppendorf, Hamburg, Germany
    Dieter Flesch-Janys & Judith Heinz
36. Molecular Diagnostics Laboratory Institute of Radioisotopes and Radiodiagnostic Products, National Centre for Scientific Research “Demokritos”, Athens, Greece
    Florentia Fostira, Irene Konstantopoulou & Drakoulis Yannoukakos
37. Division of Molecular Genetic Epidemiology, DKFZ, Heidelberg, Germany
    Asta Försti
38. Center for Primary Health Care Research, University of Lund, Malmö, Sweden
    Asta Försti
39. Department of Medical Oncology, Aristotle University of Thessaloniki, Papageorgiou Hospital, Thessaloniki, Greece
    George Fountzilas
40. Department of Pathology and Laboratory Medicine, Kansas University Medical Center, Lawrence, Kansas, USA
    Andrew K Godwin
41. Washington University School of Medicine, Barnes-Jewish Hospital and Siteman Cancer Center, St. Louis, Missouri, USA
    Paul Goodfellow & Jennifer Ivanovich
42. Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, Finland
    Dario Greco & Heli Nevanlinna
43. Department of Medicine, Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Susan E Hankinson
44. Department of Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
    Susan E Hankinson, David J Hunter, Sara Lindstrom & Peter Kraft
45. Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander University of Erlangen-Nuremberg, Erlangen, Germany
    Arndt Hartmann & Rüdiger Schulz-Wendtland
46. Sylvester Comprehensive Cancer Center and Department of Epidemiology and Public Health, University of Miami Miller School of Medicine, Miami, Florida, USA
    Jennifer J Hu & Jorge L Rodriguez-Gil
47. Program in Molecular and Genetic Epidemiology, Harvard School of Public Health, Boston, Massachusetts, USA
    David J Hunter, Sara Lindstrom & Peter Kraft
48. Human Genetics Division, Genome Institute of Singapore, Singapore
    Astrid Irwanto & Jianjun Liu
49. Cancer Prevention Institute of California, Fremont, California
    Esther M John
50. Stanford University School of Medicine and Stanford Cancer Center, Stanford, California, USA
    Esther M John
51. Breakthrough Breast Cancer Research Centre, The Institute of Cancer Research, London, UK
    Nicola Johnson
52. Department of Oncology, Oulu University Hospital, University of Oulu, Oulu, Finland
    Arja Jukkola-Vuorinen
53. Division of Cancer Epidemiology, DKFZ, Heidelberg, Germany
    Rudolf Kaaks
54. Department of Internal Medicine, Evangelische Kliniken Johanniter- und Waldkrankenhaus Bonn gGmbH, Bonn, Germany
    Yon-Dschun Ko
55. Epidemiology Program, Cancer Research Center, University of Hawaii, Honolulu, Hawaii, USA
    Laurence N Kolonel & Loïc Le Marchand
56. Department of Pathology, Imaging Centre, Kuopio University Hospital, Kuopio, Finland
    Veli-Matti Kosma
57. Department of Surgical Oncology, Roswell Park Cancer Institute, Buffalo, New York, USA
    Swati Kulkarni
58. Vesalius Research Center, Vlaams Instituut voor Biotechnologie, Leuven, Belgium
    Diether Lambrechts & Els Wauters
59. Vesalius Research Center, University of Leuven, Leuven, Belgium
    Diether Lambrechts & Els Wauters
60. Department of Pathology, Institute of Clinical Medicine, University of Eastern Finland Biocenter Kuopio, Kuopio, Finland
    Arto Mannermaa
61. Department of Pathology, Imaging Centre, Kuopio University Hospital, Kuopio, Finland
    Arto Mannermaa
62. Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden
    Sara Margolin
63. Queensland Institute of Medical Research (QIMR) Genome-Wide Association Study Collective, Brisbane, Queensland, Australia
    Nicholas G Martin & Grant W Montgomery
64. Dana-Farber Cancer Institute, Boston, Massachusetts, USA
    Penelope Miron
65. Slone Epidemiology Center at Boston University, Boston, Massachusetts, USA
    Julie Palmer & Lynn Rosenberg
66. Department of Medical Oncology, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
    Harsh Pathak & JoEllen Weaver
67. Department of Internal Medicine, Oncology Section, “Hippokration” Hospital, Athens, Greece
    Dimitrios Pectasides
68. Departments of Genetics and Pathology, Lineberger Comprehensive Cancer Center, The University of North Carolina, Chapel Hill, North Carolina, USA
    Charles M Perou
69. Department of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, UK
    Julian Peto & Isabel dos Santos Silva
70. Department of Pathology, Keck School of Medicine and Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, California
    Michael F Press
71. Department of Clinical Genetics and Biocenter Oulu, Laboratory of Cancer Genetics, University of Oulu, Oulu University Hospital, Oulu, Finland
    Katri Pylkäs & Robert Winqvist
72. University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Timothy R Rebbeck
73. Department of Biostatistics, Fox Chase Cancer Center, Philadelphia, Pennsylvania, USA
    Eric Ross
74. Institute of Pathology, Städtisches Klinikum Karlsruhe, Karlsruhe, Germany
    Thomas Rüdiger
75. National Institute for Health Research Comprehensive Biomedical Research Centre, Guy's & St. Thomas' National Health Service Foundation Trust, London, UK
    Elinor Sawyer
76. Division of Experimental Therapy and Molecular Pathology and Division of Epidemiology, Netherlands Cancer Institute–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands
    Marjanka K Schmidt
77. Department of Pathology, University Hospital Heidelberg, Heidelberg, Germany
    Hans-Peter Sinn
78. Department of Pathology, Genetic Epidemiology Laboratory, The University of Melbourne, Melbourne, Victoria, Australia
    Melissa C Southey
79. Wellcome Trust Centre for Human Genetics and Oxford Biomedical Research Centre, University of Oxford, Oxford, UK
    Ian Tomlinson
80. Family Cancer Clinic, Netherlands Cancer Institut–Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands
    Frans B L Hogervorst
81. Multidisciplinary Breast Center, University Hospital Gasthuisberg, Leuven, Belgium
    Hans Wildiers
82. Imperial College, London, UK
    Afshan Siddiq
83. Department of Biostatistics, Harvard School of Public Health, Boston, Massachusetts, USA
    Peter Kraft

Authors

1. Christopher A Haiman
2. Gary K Chen
3. Celine M Vachon
4. Federico Canzian
5. Alison Dunning
6. Robert C Millikan
7. Xianshu Wang
8. Foluso Ademuyiwa
9. Shahana Ahmed
10. Christine B Ambrosone
11. Laura Baglietto
12. Rosemary Balleine
13. Elisa V Bandera
14. Matthias W Beckmann
15. Christine D Berg
16. Leslie Bernstein
17. Carl Blomqvist
18. William J Blot
19. Hiltrud Brauch
20. Julie E Buring
21. Lisa A Carey
22. Jane E Carpenter
23. Jenny Chang-Claude
24. Stephen J Chanock
25. Daniel I Chasman
26. Christine L Clarke
27. Angela Cox
28. Simon S Cross
29. Sandra L Deming
30. Robert B Diasio
31. Athanasios M Dimopoulos
32. W Ryan Driver
33. Thomas Dünnebier
34. Lorraine Durcan
35. Diana Eccles
36. Christopher K Edlund
37. Arif B Ekici
38. Peter A Fasching
39. Heather S Feigelson
40. Dieter Flesch-Janys
41. Florentia Fostira
42. Asta Försti
43. George Fountzilas
44. Susan M Gerty
45. Graham G Giles
46. Andrew K Godwin
47. Paul Goodfellow
48. Nikki Graham
49. Dario Greco
50. Ute Hamann
51. Susan E Hankinson
52. Arndt Hartmann
53. Rebecca Hein
54. Judith Heinz
55. Andrea Holbrook
56. Robert N Hoover
57. Jennifer J Hu
58. David J Hunter
59. Sue A Ingles
60. Astrid Irwanto
61. Jennifer Ivanovich
62. Esther M John
63. Nicola Johnson
64. Arja Jukkola-Vuorinen
65. Rudolf Kaaks
66. Yon-Dschun Ko
67. Laurence N Kolonel
68. Irene Konstantopoulou
69. Veli-Matti Kosma
70. Swati Kulkarni
71. Diether Lambrechts
72. Adam M Lee
73. Loïc Le Marchand
74. Timothy Lesnick
75. Jianjun Liu
76. Sara Lindstrom
77. Arto Mannermaa
78. Sara Margolin
79. Nicholas G Martin
80. Penelope Miron
81. Grant W Montgomery
82. Heli Nevanlinna
83. Stephan Nickels
84. Sarah Nyante
85. Curtis Olswold
86. Julie Palmer
87. Harsh Pathak
88. Dimitrios Pectasides
89. Charles M Perou
90. Julian Peto
91. Paul D P Pharoah
92. Loreall C Pooler
93. Michael F Press
94. Katri Pylkäs
95. Timothy R Rebbeck
96. Jorge L Rodriguez-Gil
97. Lynn Rosenberg
98. Eric Ross
99. Thomas Rüdiger
100. Isabel dos Santos Silva
101. Elinor Sawyer
102. Marjanka K Schmidt
103. Rüdiger Schulz-Wendtland
104. Fredrick Schumacher
105. Gianluca Severi
106. Xin Sheng
107. Lisa B Signorello
108. Hans-Peter Sinn
109. Kristen N Stevens
110. Melissa C Southey
111. William J Tapper
112. Ian Tomlinson
113. Frans B L Hogervorst
114. Els Wauters
115. JoEllen Weaver
116. Hans Wildiers
117. Robert Winqvist
118. David Van Den Berg
119. Peggy Wan
120. Lucy Y Xia
121. Drakoulis Yannoukakos
122. Wei Zheng
123. Regina G Ziegler
124. Afshan Siddiq
125. Susan L Slager
126. Daniel O Stram
127. Douglas Easton
128. Peter Kraft
129. Brian E Henderson
130. Fergus J Couch

Consortia

The Gene Environment Interaction and Breast Cancer in Germany (GENICA) Consortium

Contributions

Conceived of and designed the experiments: C.A.H. and F.J.C. Performed the experiments and analyzed the data: C.A.H., L.C.P., D.V.D.B., X.S., G.K.C., A. Holbrook, P.W., F.C., D.O.S., X.W., T.L., C.O., K.N.S., A.M.L., L.Y.X., S.L.S. and C.M.V. Contributed reagents, materials, analysis tools or comments on the manuscript: C.A.H., C.M.V., A.D., R.C.M., X.W., F.A., S.A., C.B.A., L. Baglietto, R.B., E.V.B., M.W.B., C.D.B., L. Bernstein, C.B., W.J.B., H.B., J.E.B., L.A.C., J.E.C., J.C.-C., S.J.C., D.I.C., C.L.C., A.C., S.S.C., S.L.D., R.B.D., A.M.D., W.R.D., T.D., L.D., D.E., C.K.E., A.B.E., P.A.F., H.S.F., D.F.-J., F.F., A.F., G.F., S.M.G., G.G.G., A.K.G., P.G., N.G., D.G., U.H., S.E.H., A. Hartmann, R.H., J.H., R.N.H., J.J.H., D.J.H., S.A.I., A.I., J.I., E.M.J., N.J., A.J.-V., R.K., Y.-D.K., L.N.K., I.K., V.-M.K., S.K., D.L., A.M.L., L.L.M., T.L., J.L., S.L., A.M., S.M., N.G.M., P.M., G.W.M., H.N., S. Nickels, S. Nyante, C.O., J. Palmer, H.P., D.P., C.M.P., J. Peto, P.D.P.P., L.C.P., M.F.P., K.P., T.R.R., J.L.R.-G., L.R., E.R., T.R., I.d.S.S., E.S., M.K.S., R.S.-W., F.S., G.S., X.S., L.B.S., H.-P.S., K.N.S., M.C.S., W.J.T., I.T., F.B.L.H., E.W., J.W., H.W., R.W., D.Y., W.Z., R.G.Z., A.S., S.L.S., D.O.S., D.E., P.K., B.E.H. and F.J.C. Wrote the paper: C.A.H. and F.J.C.

Corresponding authors

Correspondence toChristopher A Haiman or Fergus J Couch.

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Competing interests

The authors declare no competing financial interests.

Additional information

A full list of members is provided in the Supplementary Note.

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Haiman, C., Chen, G., Vachon, C. et al. A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor–negative breast cancer.Nat Genet 43, 1210–1214 (2011). https://doi.org/10.1038/ng.985

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• Received: 03 May 2011
• Accepted: 28 September 2011
• Published: 30 October 2011
• Issue date: December 2011
• DOI: https://doi.org/10.1038/ng.985