Brief Communication abstract

Nature Genetics 40, 838 - 840 (2008)
Published online: 18 May 2008 | doi:10.1038/ng.163

Common sequence variants on 20q11.22 confer melanoma susceptibility

Kevin M Brown1,23, Stuart MacGregor2,23, Grant W Montgomery2, David W Craig3, Zhen Zhen Zhao2, Kelly Iyadurai1, Anjali K Henders2, Nils Homer4, Megan J Campbell2, Mitchell Stark2, Shane Thomas2, Helen Schmid5, Elizabeth A Holland5, Elizabeth M Gillanders6, David L Duffy2, Judith A Maskiell7, Jodie Jetann8, Megan Ferguson8, Dietrich A Stephan3, Anne E Cust7, David Whiteman2, Adele Green2, Håkan Olsson9,21,22, Susana Puig10,22, Paola Ghiorzo11,22, Johan Hansson12,22, Florence Demenais13,22, Alisa M Goldstein14, Nelleke A Gruis15,22, David E Elder16,22, Julia Newton Bishop17,22, Richard F Kefford5, Graham G Giles18, Bruce K Armstrong19, Joanne F Aitken8, John L Hopper7, Nicholas G Martin2, Jeffrey M Trent20, Graham J Mann5 & Nicholas K Hayward2


We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 times 10-15). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.

  1. Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA.
  2. The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, Queensland 4029, Australia.
  3. Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA.
  4. University of California Los Angeles, Los Angeles, California 90095, USA.
  5. Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, New South Wales 2145, Australia.
  6. Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, Maryland 21224, USA.
  7. Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, Melbourne, Victoria 3052, Australia.
  8. Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, Queensland 4004, Australia.
  9. Lund Cancer Center Department of Oncology, University Hospital, SE-22185 Lund, Sweden.
  10. Dermatology Department, Melanoma Unit, Hospital Clínic, Institut de Investigació Biomèdica August Pi Suñe, Universitat de Barcelona, 08036 Barcelona, Spain.
  11. Department of Oncology, Biology, and Genetics, University of Genova, 16132 Genova, Italy.
  12. Department of Oncology-Pathology, Karolinska Institute and Karolinska University Hospital, Solna, S-171 76 Stockholm, Sweden.
  13. INSERM, U794, Fondation Jean-Dausset–CEPH, 75010 Paris, France.
  14. Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20892, USA.
  15. Department of Dermatology, Leiden University Medical Center, 2333 AL Leiden, The Netherlands.
  16. Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.
  17. Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Leeds LS9 7TF, UK.
  18. Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton, Victoria 3053, Australia.
  19. School of Public Health, University of Sydney, Sydney, New South Wales 2006, Australia.
  20. Genetic Basis of Human Disease Division, The Translational Genomics Research Institute, Phoenix, Arizona 85028, USA.
  21. On behalf of the Lund Melanoma Group.
  22. On behalf of the International Melanoma Genetics Consortium (GenoMEL).
  23. These authors contributed equally to this work.

Correspondence to: Stuart MacGregor2,23 e-mail:


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