A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 (original) (raw)

References

1. Lichtenstein, P. et al. Environmental and heritable factors in the causation of cancer–analyses of cohorts of twins from Sweden, Denmark and Finland. N. Engl. J. Med. 343, 78–85 (2000).
   Article CAS PubMed Google Scholar
2. Aaltonen, L., Johns, L., Jarvinen, H., Mecklin, J.P. & Houlston, R. Explaining the familial colorectal cancer risk associated with mismatch repair (MMR)-deficient and MMR-stable tumors. Clin. Cancer Res. 13, 356–361 (2007).
   Article CAS PubMed Google Scholar
3. Amundadottir, L.T. et al. A common variant associated with prostate cancer in European and African populations. Nat. Genet. 38, 652–658 (2006).
   Article CAS PubMed Google Scholar
4. Gudmundsson, J. et al. Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24. Nat. Genet. 39, 631–637 (2007).
   Article CAS PubMed Google Scholar
5. Haiman, C.A. et al. Multiple regions within 8q24 independently affect risk for prostate cancer. Nat. Genet. 39, 638–644 (2007).
   Article CAS PubMed PubMed Central Google Scholar
6. Yeager, M. et al. Genome-wide association study of prostate cancer identifies a second risk locus at 8q24. Nat. Genet. 39, 645–649 (2007).
   Article CAS PubMed Google Scholar
7. Pan, G.J., Chang, Z.Y., Scholer, H.R. & Pei, D. Stem cell pluripotency and transcription factor Oct4. Cell Res. 12, 321–329 (2002).
   Article PubMed Google Scholar
8. Logan, R. et al. Aspirin for the prevention of recurrent colorectal adenomas - results of the UKCAP trial. Gut 55 Suppl 2, a90 (2006).
   Google Scholar
9. UK Flexible Sigmoidoscopy Screening Trial Investigators. Single flexible sigmoidoscopy screening to prevent colorectal cancer: baseline findings of a UK multicentre randomized trial. Lancet 359, 1291–1300 (2002).
10. International Classification of Diseases, 9th revision (World Health Organization, Geneva, 1977).
11. Zhou, X.P. et al. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosom. Cancer 21, 101–117 (1998).
    Article CAS PubMed Google Scholar
12. Boland, C.R. et al. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 58, 5248–5257 (1998).
    CAS PubMed Google Scholar
13. Petitti, D. Meta-Analysis Decision Analysis and Cost-Effectiveness Analysis (Oxford Univ. Press, New York, 1994).
    Google Scholar
14. Higgins, J.P. & Thompson, S.G. Quantifying heterogeneity in a meta-analysis. Stat. Med. 21, 1539–1558 (2002).
    Article PubMed Google Scholar
15. Cox, A. et al. A common coding variant in CASP8 is associated with breast cancer risk. Nat. Genet. 39, 352–358 (2007).
    Article CAS PubMed Google Scholar
16. Johns, L.E. & Houlston, R.S. A systematic review and meta-analysis of familial colorectal cancer risk. Am. J. Gastroenterol. 96, 2992–3003 (2001).
    Article CAS PubMed Google Scholar

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Acknowledgements

We thank all the affected and control individuals for their participation, and we thank C. Thirlwell, K. Monahan, A. Walther, J. Harvey, H. Schaschl, C. Cummings, E Volikos, G. Clark and colleagues. This work was principally supported by a grant from Cancer Research UK. Additional grant support was provided by CORE, the European Union (CCPRB LSHC-CT-2004-503465), the Bobby Moore Fund and the Thomas Falknor Fund. P.B. and G.S. are funded by Leukaemia Research. R. Hubner is in receipt of a Clinical Training Fellowship from Cancer Research UK.

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Author notes

1. Emily Webb, Luis Carvajal-Carmona, Peter Broderick, Zoe Kemp and Sarah Spain: These authors contributed equally to this work.

Authors and Affiliations

1. Molecular and Population Genetics Laboratory, Cancer Research UK, London, WC2A 3PX, UK
   Ian Tomlinson, Luis Carvajal-Carmona, Zoe Kemp, Sarah Spain, Maggie Gorman, Ella Barclay, Lynn Martin, Emma Jaeger, Andrew Rowan & Kimberley Howarth
2. Institute of Cancer, Bart's and the London Medical School, Queen Mary College, University of London, UK
   Ian Tomlinson & Andrew Silver
3. Section of Cancer Genetics, Institute of Cancer Research, Sutton, SM2 5NG, UK
   Emily Webb, Peter Broderick, Steven Penegar, Ian Chandler, Wendy Wood, Steven Lubbe, Gabrielle Sellick, Richard Hubner, Ruth Wild, Sarah Fielding & Richard Houlston
4. Colorectal Cancer Unit, Cancer Research UK, St Mark's Hospital, Harrow, HA1 3UJ, UK
   Wendy Atkin
5. Division of Epidemiology and Public Health, University of Nottingham, Medical School, Queen's Medical Centre, Nottingham, NG7 2UH, UK
   Kenneth Muir & Richard Logan
6. Department of Clinical Pharmacology, Oxford University, Radcliffe Infirmary, Oxford, OX2 6HA, UK
   David Kerr & Elaine Johnstone
7. Cancer and Immunogenetics Laboratory, Weatherall Institute for Molecular Medicine, Oxford University, Oxford, OX3 9DS, UK
   Oliver Sieber
8. Birmingham Clinical Trials Unit, University of Birmingham, Birmingham, B15 2RR, UK
   Richard Gray
9. Family Cancer Clinic, Cancer Research UK, St Mark's Hospital, Harrow, HA1 3UJ, UK
   Huw Thomas
10. Non-Communicable Disease Epidemiology Unit, London School of Hygiene and Tropical Medicine, London, WC1E 7HT, UK
    Julian Peto
11. Section of Epidemiology, Institute of Cancer Research, Surrey, SM2 5NG, UK
    Julian Peto
12. Bioinformatics and Biostatistics, Cancer Research UK, London, WC2A 3PX, UK
    Jean-Baptiste Cazier

Authors

1. Ian Tomlinson
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2. Emily Webb
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3. Luis Carvajal-Carmona
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4. Peter Broderick
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5. Zoe Kemp
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6. Sarah Spain
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7. Steven Penegar
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8. Ian Chandler
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9. Maggie Gorman
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10. Wendy Wood
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11. Ella Barclay
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12. Steven Lubbe
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13. Lynn Martin
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14. Gabrielle Sellick
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15. Emma Jaeger
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16. Richard Hubner
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17. Ruth Wild
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18. Andrew Rowan
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19. Sarah Fielding
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20. Kimberley Howarth
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21. Andrew Silver
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22. Wendy Atkin
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23. Kenneth Muir
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24. Richard Logan
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25. David Kerr
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26. Elaine Johnstone
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27. Oliver Sieber
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28. Richard Gray
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29. Huw Thomas
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30. Julian Peto
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31. Jean-Baptiste Cazier
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32. Richard Houlston
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Consortia

the CORGI Consortium

Contributions

A complete list of members of the CORGI Consortium is given in the Supplementary Note online. R. Houlston and I.T. designed the study and obtained financial support. Additional authors contributed as follows: Z.K., S.S., S.P. supervision of patient recruitment; G.S., J.P., R.G., S.S., L.M., R. Hubner M.G. and W.W., sample collection; S.P., Z.K., M.G., S.L., S.F., R.W., P.B. and I.C., sample preparation; W.A., A.S., D.K., H.T. and members of the CORGI consortium (available on request), sample acquisition and provision; L.C.-C. and P.B., coordination of genotyping; L.C.-C., E.J., A.R., S.S. and K.H., genotyping; E.W. and J.-B.C., data manipulation and statistical analyses; A.R., expression studies and O.S., 8q amplicon analysis. R. Houlston and I.T. drafted the manuscript with substantial contributions from E.W. All authors contributed to the final paper.

Corresponding authors

Correspondence toIan Tomlinson or Richard Houlston.

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Competing interests

The authors declare no competing financial interests.

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Tomlinson, I., Webb, E., Carvajal-Carmona, L. et al. A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21.Nat Genet 39, 984–988 (2007). https://doi.org/10.1038/ng2085

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• Received: 29 March 2007
• Accepted: 01 June 2007
• Published: 08 July 2007
• Issue Date: August 2007
• DOI: https://doi.org/10.1038/ng2085