A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma

Satoru Yokoyama, Susan L. Woods, Glen M. Boyle, Lauren G. Aoude, Stuart MacGregor, Victoria Zismann, Michael Gartside, Anne E. Cust, Rizwan Haq, Mark Harland, John C. Taylor, David L. Duffy, Kelly Holohan, Ken Dutton-Regester, Jane M. Palmer, Vanessa Bonazzi, Mitchell S. Stark, Judith Symmons, Matthew H. Law, Christopher Schmidt, Cathy Lanagan, Linda O’Connor, Elizabeth A. Holland, Helen Schmid, Judith A. Maskiell, Jodie Jetann, Megan Ferguson, Mark A. Jenkins, Richard F. Kefford, Graham G. Giles, Bruce K. Armstrong, Joanne F. Aitken, John L. Hopper, David C. Whiteman, Paul D. Pharoah, Douglas F. Easton, Alison M. Dunning, Julia A. Newton-Bishop, Grant W. Montgomery, Nicholas G. Martin, Graham J. Mann, D. Timothy Bishop, Hensin Tsao, Jeffrey M. Trent, David E. Fisher, Nicholas K. Hayward and Kevin M. Brown ()
Additional contact information
Satoru Yokoyama: Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School
Susan L. Woods: Queensland Institute of Medical Research
Glen M. Boyle: Queensland Institute of Medical Research
Lauren G. Aoude: Queensland Institute of Medical Research
Stuart MacGregor: Queensland Institute of Medical Research
Victoria Zismann: Translational Genomics Research Institute
Michael Gartside: Queensland Institute of Medical Research
Anne E. Cust: Cancer Epidemiology and Services Research, Sydney School of Public Health, Sydney Medical School, The University of Sydney
Rizwan Haq: Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School
Mark Harland: Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James’s University Hospital
John C. Taylor: Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James’s University Hospital
David L. Duffy: Queensland Institute of Medical Research
Kelly Holohan: Queensland Institute of Medical Research
Ken Dutton-Regester: Queensland Institute of Medical Research
Jane M. Palmer: Queensland Institute of Medical Research
Vanessa Bonazzi: Queensland Institute of Medical Research
Mitchell S. Stark: Queensland Institute of Medical Research
Judith Symmons: Queensland Institute of Medical Research
Matthew H. Law: Queensland Institute of Medical Research
Christopher Schmidt: Queensland Institute of Medical Research
Cathy Lanagan: Queensland Institute of Medical Research
Linda O’Connor: Queensland Institute of Medical Research
Elizabeth A. Holland: Westmead Institute of Cancer Research, University of Sydney at Westmead Millennium Institute and Melanoma Institute Australia
Helen Schmid: Westmead Institute of Cancer Research, University of Sydney at Westmead Millennium Institute and Melanoma Institute Australia
Judith A. Maskiell: Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne
Jodie Jetann: Viertel Centre for Research in Cancer Control, The Cancer Council Queensland
Megan Ferguson: Viertel Centre for Research in Cancer Control, The Cancer Council Queensland
Mark A. Jenkins: Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne
Richard F. Kefford: Westmead Institute of Cancer Research, University of Sydney at Westmead Millennium Institute and Melanoma Institute Australia
Graham G. Giles: Cancer Epidemiology Centre, The Cancer Council Victoria
Bruce K. Armstrong: Cancer Epidemiology and Services Research, Sydney School of Public Health, Sydney Medical School, The University of Sydney
Joanne F. Aitken: Viertel Centre for Research in Cancer Control, The Cancer Council Queensland
John L. Hopper: Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne
David C. Whiteman: Queensland Institute of Medical Research
Paul D. Pharoah: University of Cambridge, Cambridge CB1 8RN
Douglas F. Easton: University of Cambridge, Cambridge CB1 8RN
Alison M. Dunning: University of Cambridge, Cambridge CB1 8RN
Julia A. Newton-Bishop: Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James’s University Hospital
Grant W. Montgomery: Queensland Institute of Medical Research
Nicholas G. Martin: Queensland Institute of Medical Research
Graham J. Mann: Westmead Institute of Cancer Research, University of Sydney at Westmead Millennium Institute and Melanoma Institute Australia
D. Timothy Bishop: Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James’s University Hospital
Hensin Tsao: Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School
Jeffrey M. Trent: Translational Genomics Research Institute
David E. Fisher: Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School
Nicholas K. Hayward: Queensland Institute of Medical Research
Kevin M. Brown: Translational Genomics Research Institute

Nature, 2011, vol. 480, issue 7375, 99-103

Abstract: Whole-genome sequencing identifies a novel germline variant in the oncogene MITF, which is associated with the development of melanoma.

Date: 2011
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DOI: 10.1038/nature10630

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