Common sequence variants on 20q11.22 confer melanoma susceptibility
Identifieur interne : 001343 ( Pmc/Curation ); précédent : 001342; suivant : 001344Common sequence variants on 20q11.22 confer melanoma susceptibility
Auteurs : Kevin M. Brown [États-Unis] ; Stuart Macgregor ; Grant W. Montgomery ; David W. Craig [États-Unis] ; Zhen Zhen Zhao ; Kelly Iyadurai [États-Unis] ; Anjali Henders ; Nils Homer [États-Unis] ; Megan Campbell ; Mitchell Stark ; Shane Thomas ; Helen Schmid ; Elizabeth A. Holland ; Elizabeth M. Gillanders [États-Unis] ; David L. Duffy ; Judith A. Maskiell [Australie] ; Jodie Jetann ; Megan Ferguson ; Dietrich A. Stephan [États-Unis] ; Anne E. Cust [Australie] ; David Whiteman ; Adele Green ; H Kan Olsson ; Susana Puig [Espagne] ; Paola Ghiorzo [Italie] ; Johan Hansson [Suède] ; Florence Demenais [France] ; Alisa M. Goldstein [États-Unis] ; Nelleke A. Gruis [Pays-Bas] ; David E. Elder [États-Unis] ; Julia Newton Bishop [Royaume-Uni] ; Richard F. Kefford ; Graham G. Giles ; Bruce K. Armstrong [Australie] ; Joanne F. Aitken ; John L. Hopper [Australie] ; Nicholas G. Martin ; Jeffrey M. Trent [États-Unis] ; Graham J. Mann ; Nicholas K. HaywardSource :
- Nature genetics [ 1061-4036 ] ; 2008.
Abstract
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totalling 2019 cases and 2105 controls. Using pooling we identified a novel melanoma risk locus on chromosome 20 (rs910873, rs1885120), with replication in two further samples (combined
Url:
DOI: 10.1038/ng.163
PubMed: 18488026
PubMed Central: 2755512
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Stuart Macgregor<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
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<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
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<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
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<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
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<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
<wicri:noCountry code="subfield">NSW 2145 Australia</wicri:noCountry>
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<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
<wicri:noCountry code="subfield">NSW 2145 Australia</wicri:noCountry>
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<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A8">Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4004 Australia</wicri:noCountry>
</affiliation>
<affiliation><nlm:aff id="A8">Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</nlm:aff>
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<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
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<affiliation><nlm:aff id="A9">Lund Cancer Center Department of Oncology, University Hospital, Lund, Sweden, on behalf of Lund Melanoma Group</nlm:aff>
<wicri:noCountry code="subfield">on behalf of Lund Melanoma Group</wicri:noCountry>
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<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
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<affiliation><nlm:aff id="A18">Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton Victoria 3053 Australia</nlm:aff>
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<affiliation><nlm:aff id="A8">Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</nlm:aff>
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Le document en format XML
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<author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A." last="Gruis">Nelleke A. Gruis</name>
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<author><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E." last="Elder">David E. Elder</name>
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<author><name sortKey="Bishop, Julia Newton" sort="Bishop, Julia Newton" uniqKey="Bishop J" first="Julia Newton" last="Bishop">Julia Newton Bishop</name>
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<author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
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<author><name sortKey="Armstrong, Bruce K" sort="Armstrong, Bruce K" uniqKey="Armstrong B" first="Bruce K." last="Armstrong">Bruce K. Armstrong</name>
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<author><name sortKey="Aitken, Joanne F" sort="Aitken, Joanne F" uniqKey="Aitken J" first="Joanne F." last="Aitken">Joanne F. Aitken</name>
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<author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
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<author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name>
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<author><name sortKey="Trent, Jeffrey M" sort="Trent, Jeffrey M" uniqKey="Trent J" first="Jeffrey M." last="Trent">Jeffrey M. Trent</name>
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<author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J." last="Mann">Graham J. Mann</name>
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<author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K." last="Hayward">Nicholas K. Hayward</name>
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<idno type="doi">10.1038/ng.163</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Common sequence variants on 20q11.22 confer melanoma susceptibility</title>
<author><name sortKey="Brown, Kevin M" sort="Brown, Kevin M" uniqKey="Brown K" first="Kevin M." last="Brown">Kevin M. Brown</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, AZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W." last="Montgomery">Grant W. Montgomery</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Craig, David W" sort="Craig, David W" uniqKey="Craig D" first="David W." last="Craig">David W. Craig</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Zhao, Zhen Zhen" sort="Zhao, Zhen Zhen" uniqKey="Zhao Z" first="Zhen Zhen" last="Zhao">Zhen Zhen Zhao</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Iyadurai, Kelly" sort="Iyadurai, Kelly" uniqKey="Iyadurai K" first="Kelly" last="Iyadurai">Kelly Iyadurai</name>
<affiliation wicri:level="1"><nlm:aff id="A1">Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, AZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Henders, Anjali" sort="Henders, Anjali" uniqKey="Henders A" first="Anjali" last="Henders">Anjali Henders</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Homer, Nils" sort="Homer, Nils" uniqKey="Homer N" first="Nils" last="Homer">Nils Homer</name>
<affiliation wicri:level="1"><nlm:aff id="A4">University of California, Los Angeles, Los Angeles, CA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of California, Los Angeles, Los Angeles, CA</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Campbell, Megan" sort="Campbell, Megan" uniqKey="Campbell M" first="Megan" last="Campbell">Megan Campbell</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Thomas, Shane" sort="Thomas, Shane" uniqKey="Thomas S" first="Shane" last="Thomas">Shane Thomas</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Schmid, Helen" sort="Schmid, Helen" uniqKey="Schmid H" first="Helen" last="Schmid">Helen Schmid</name>
<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
<wicri:noCountry code="subfield">NSW 2145 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Holland, Elizabeth A" sort="Holland, Elizabeth A" uniqKey="Holland E" first="Elizabeth A" last="Holland">Elizabeth A. Holland</name>
<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
<wicri:noCountry code="subfield">NSW 2145 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Gillanders, Elizabeth M" sort="Gillanders, Elizabeth M" uniqKey="Gillanders E" first="Elizabeth M." last="Gillanders">Elizabeth M. Gillanders</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Duffy, David L" sort="Duffy, David L" uniqKey="Duffy D" first="David L." last="Duffy">David L. Duffy</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Maskiell, Judith A" sort="Maskiell, Judith A" uniqKey="Maskiell J" first="Judith A." last="Maskiell">Judith A. Maskiell</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, VIC 3052 Australia</nlm:aff>
<orgName type="university">Université de Melbourne</orgName>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Jetann, Jodie" sort="Jetann, Jodie" uniqKey="Jetann J" first="Jodie" last="Jetann">Jodie Jetann</name>
<affiliation><nlm:aff id="A8">Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4004 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ferguson, Megan" sort="Ferguson, Megan" uniqKey="Ferguson M" first="Megan" last="Ferguson">Megan Ferguson</name>
<affiliation><nlm:aff id="A8">Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4004 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Stephan, Dietrich A" sort="Stephan, Dietrich A" uniqKey="Stephan D" first="Dietrich A." last="Stephan">Dietrich A. Stephan</name>
<affiliation wicri:level="1"><nlm:aff id="A3">Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E." last="Cust">Anne E. Cust</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, VIC 3052 Australia</nlm:aff>
<orgName type="university">Université de Melbourne</orgName>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Whiteman, David" sort="Whiteman, David" uniqKey="Whiteman D" first="David" last="Whiteman">David Whiteman</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Green, Adele" sort="Green, Adele" uniqKey="Green A" first="Adele" last="Green">Adele Green</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Olsson, H Kan" sort="Olsson, H Kan" uniqKey="Olsson H" first="H Kan" last="Olsson">H Kan Olsson</name>
<affiliation><nlm:aff id="A9">Lund Cancer Center Department of Oncology, University Hospital, Lund, Sweden, on behalf of Lund Melanoma Group</nlm:aff>
<wicri:noCountry code="subfield">on behalf of Lund Melanoma Group</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name>
<affiliation wicri:level="1"><nlm:aff id="A10">Dermatology Department, Melanoma Unit, Hospital Clínic, Institut de Investigació Biomèdica August Pi Suñe, Universitat de Barcelona, Barcelona, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Dermatology Department, Melanoma Unit, Hospital Clínic, Institut de Investigació Biomèdica August Pi Suñe, Universitat de Barcelona, Barcelona</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name>
<affiliation wicri:level="1"><nlm:aff id="A11">Department of Oncology, Biology, and Genetics, University of Genova, Genova, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Oncology, Biology, and Genetics, University of Genova, Genova</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Oncology-Pathology, Karolinska Institute and Karolinska University Hospital, Solna, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Oncology-Pathology, Karolinska Institute and Karolinska University Hospital, Solna, Stockholm</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name>
<affiliation wicri:level="1"><nlm:aff id="A13">INSERM, U794, Fondation Jean-Dausset-CEPH, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, U794, Fondation Jean-Dausset-CEPH, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M." last="Goldstein">Alisa M. Goldstein</name>
<affiliation wicri:level="1"><nlm:aff id="A14">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A." last="Gruis">Nelleke A. Gruis</name>
<affiliation wicri:level="1"><nlm:aff id="A15">Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E." last="Elder">David E. Elder</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Bishop, Julia Newton" sort="Bishop, Julia Newton" uniqKey="Bishop J" first="Julia Newton" last="Bishop">Julia Newton Bishop</name>
<affiliation wicri:level="1"><nlm:aff id="A17">Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F." last="Kefford">Richard F. Kefford</name>
<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
<wicri:noCountry code="subfield">NSW 2145 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G." last="Giles">Graham G. Giles</name>
<affiliation><nlm:aff id="A18">Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton Victoria 3053 Australia</nlm:aff>
<wicri:noCountry code="subfield">Carlton Victoria 3053 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Armstrong, Bruce K" sort="Armstrong, Bruce K" uniqKey="Armstrong B" first="Bruce K." last="Armstrong">Bruce K. Armstrong</name>
<affiliation wicri:level="4"><nlm:aff id="A19">School of Public Health, University of Sydney, NSW 2006 Australia</nlm:aff>
<orgName type="university">Université de Sydney</orgName>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Aitken, Joanne F" sort="Aitken, Joanne F" uniqKey="Aitken J" first="Joanne F." last="Aitken">Joanne F. Aitken</name>
<affiliation><nlm:aff id="A8">Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4004 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L." last="Hopper">John L. Hopper</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, VIC 3052 Australia</nlm:aff>
<orgName type="university">Université de Melbourne</orgName>
<country>Australie</country>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Trent, Jeffrey M" sort="Trent, Jeffrey M" uniqKey="Trent J" first="Jeffrey M." last="Trent">Jeffrey M. Trent</name>
<affiliation wicri:level="1"><nlm:aff id="A20">Genetic Basis of Human Disease Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Genetic Basis of Human Disease Division, The Translational Genomics Research Institute, Phoenix, AZ</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J." last="Mann">Graham J. Mann</name>
<affiliation><nlm:aff id="A5">Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</nlm:aff>
<wicri:noCountry code="subfield">NSW 2145 Australia</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K." last="Hayward">Nicholas K. Hayward</name>
<affiliation><nlm:aff id="A2">The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</nlm:aff>
<wicri:noCountry code="subfield">QLD 4029 Australia</wicri:noCountry>
</affiliation>
</author>
</analytic>
<series><title level="j">Nature genetics</title>
<idno type="ISSN">1061-4036</idno>
<idno type="eISSN">1546-1718</idno>
<imprint><date when="2008">2008</date>
</imprint>
</series>
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<front><div type="abstract" xml:lang="en"><p id="P3">We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totalling 2019 cases and 2105 controls. Using pooling we identified a novel melanoma risk locus on chromosome 20 (rs910873, rs1885120), with replication in two further samples (combined <italic>P</italic>
<1 × 10<sup>-15</sup>
). The odds ratio is 1.75 (1.53, 2.01), with evidence for stronger association in early onset cases.</p>
</div>
</front>
</TEI>
<pmc article-type="research-article" xml:lang="EN"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id>
<journal-id journal-id-type="pubmed-jr-id">2419</journal-id>
<journal-id journal-id-type="nlm-ta">Nat Genet</journal-id>
<journal-title>Nature genetics</journal-title>
<issn pub-type="ppub">1061-4036</issn>
<issn pub-type="epub">1546-1718</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">18488026</article-id>
<article-id pub-id-type="pmc">2755512</article-id>
<article-id pub-id-type="doi">10.1038/ng.163</article-id>
<article-id pub-id-type="manuscript">NIHMS130202</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Common sequence variants on 20q11.22 confer melanoma susceptibility</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Brown</surname>
<given-names>Kevin M.</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="author-notes" rid="FN1">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>MacGregor</surname>
<given-names>Stuart</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="author-notes" rid="FN1">21</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Montgomery</surname>
<given-names>Grant W.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Craig</surname>
<given-names>David W.</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Zhao</surname>
<given-names>Zhen Zhen</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Iyadurai</surname>
<given-names>Kelly</given-names>
</name>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Henders</surname>
<given-names>Anjali</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Homer</surname>
<given-names>Nils</given-names>
</name>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Campbell</surname>
<given-names>Megan</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stark</surname>
<given-names>Mitchell</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Thomas</surname>
<given-names>Shane</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Schmid</surname>
<given-names>Helen</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Holland</surname>
<given-names>Elizabeth A</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gillanders</surname>
<given-names>Elizabeth M.</given-names>
</name>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Duffy</surname>
<given-names>David L.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Maskiell</surname>
<given-names>Judith A.</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Jetann</surname>
<given-names>Jodie</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ferguson</surname>
<given-names>Megan</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Stephan</surname>
<given-names>Dietrich A.</given-names>
</name>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Cust</surname>
<given-names>Anne E.</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Whiteman</surname>
<given-names>David</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Green</surname>
<given-names>Adele</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Olsson</surname>
<given-names>Håkan</given-names>
</name>
<xref ref-type="aff" rid="A9">9</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Puig</surname>
<given-names>Susana</given-names>
</name>
<xref ref-type="aff" rid="A10">10</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Ghiorzo</surname>
<given-names>Paola</given-names>
</name>
<xref ref-type="aff" rid="A11">11</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hansson</surname>
<given-names>Johan</given-names>
</name>
<xref ref-type="aff" rid="A12">12</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Demenais</surname>
<given-names>Florence</given-names>
</name>
<xref ref-type="aff" rid="A13">13</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Goldstein</surname>
<given-names>Alisa M.</given-names>
</name>
<xref ref-type="aff" rid="A14">14</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Gruis</surname>
<given-names>Nelleke A.</given-names>
</name>
<xref ref-type="aff" rid="A15">15</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Elder</surname>
<given-names>David E.</given-names>
</name>
<xref ref-type="aff" rid="A16">16</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Bishop</surname>
<given-names>Julia Newton</given-names>
</name>
<xref ref-type="aff" rid="A17">17</xref>
<xref ref-type="author-notes" rid="FN2">22</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Kefford</surname>
<given-names>Richard F.</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Giles</surname>
<given-names>Graham G.</given-names>
</name>
<xref ref-type="aff" rid="A18">18</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Armstrong</surname>
<given-names>Bruce K.</given-names>
</name>
<xref ref-type="aff" rid="A19">19</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Aitken</surname>
<given-names>Joanne F.</given-names>
</name>
<xref ref-type="aff" rid="A8">8</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hopper</surname>
<given-names>John L.</given-names>
</name>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Martin</surname>
<given-names>Nicholas G.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Trent</surname>
<given-names>Jeffrey M.</given-names>
</name>
<xref ref-type="aff" rid="A20">20</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Mann</surname>
<given-names>Graham J.</given-names>
</name>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Hayward</surname>
<given-names>Nicholas K.</given-names>
</name>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Integrated Cancer Genomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</aff>
<aff id="A2"><label>2</label>
The Population Studies and Genetics Division, Queensland Institute of Medical Research, Brisbane, QLD 4029 Australia</aff>
<aff id="A3"><label>3</label>
Neurogenomics Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</aff>
<aff id="A4"><label>4</label>
University of California, Los Angeles, Los Angeles, CA, USA</aff>
<aff id="A5"><label>5</label>
Westmead Institute of Cancer Research and Sydney Melanoma Unit, University of Sydney at Westmead Millennium Institute, Westmead, NSW 2145 Australia</aff>
<aff id="A6"><label>6</label>
Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, USA</aff>
<aff id="A7"><label>7</label>
Centre for Molecular, Environmental, Genetic and Analytic Epidemiology, School of Population Health, University of Melbourne, VIC 3052 Australia</aff>
<aff id="A8"><label>8</label>
Viertel Centre for Research in Cancer Control, The Cancer Council Queensland, Brisbane, QLD 4004 Australia</aff>
<aff id="A9"><label>9</label>
Lund Cancer Center Department of Oncology, University Hospital, Lund, Sweden, on behalf of Lund Melanoma Group</aff>
<aff id="A10"><label>10</label>
Dermatology Department, Melanoma Unit, Hospital Clínic, Institut de Investigació Biomèdica August Pi Suñe, Universitat de Barcelona, Barcelona, Spain</aff>
<aff id="A11"><label>11</label>
Department of Oncology, Biology, and Genetics, University of Genova, Genova, Italy</aff>
<aff id="A12"><label>12</label>
Department of Oncology-Pathology, Karolinska Institute and Karolinska University Hospital, Solna, Stockholm, Sweden</aff>
<aff id="A13"><label>13</label>
INSERM, U794, Fondation Jean-Dausset-CEPH, Paris, France</aff>
<aff id="A14"><label>14</label>
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA</aff>
<aff id="A15"><label>15</label>
Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands</aff>
<aff id="A16"><label>16</label>
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA</aff>
<aff id="A17"><label>17</label>
Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, UK</aff>
<aff id="A18"><label>18</label>
Cancer Epidemiology Centre, The Cancer Council Victoria, Carlton Victoria 3053 Australia</aff>
<aff id="A19"><label>19</label>
School of Public Health, University of Sydney, NSW 2006 Australia</aff>
<aff id="A20"><label>20</label>
Genetic Basis of Human Disease Division, The Translational Genomics Research Institute, Phoenix, AZ, USA</aff>
<author-notes><corresp id="CR1">Correspondence should be addressed to S.M. (<email>Stuart.Macgregor@qimr.edu.au</email>
).</corresp>
<fn fn-type="equal" id="FN1"><label>21</label>
<p id="P1">these authors contributed equally to this work</p>
</fn>
<fn id="FN2"><label>22</label>
<p id="P2">on behalf of GenoMEL (the International Melanoma Genetics Consortium)</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>13</day>
<month>7</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="epub"><day>18</day>
<month>5</month>
<year>2008</year>
</pub-date>
<pub-date pub-type="ppub"><month>7</month>
<year>2008</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>2</day>
<month>10</month>
<year>2009</year>
</pub-date>
<volume>40</volume>
<issue>7</issue>
<fpage>838</fpage>
<lpage>840</lpage>
<related-article journal-id-type="nlm-ta" journal-id="Nat Genet" related-article-type="commentary" page="817" id="N0x1e2a340N0x291f6c8" xlink:href="18583973" ext-link-type="pubmed" vol="40"></related-article>
<abstract><p id="P3">We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totalling 2019 cases and 2105 controls. Using pooling we identified a novel melanoma risk locus on chromosome 20 (rs910873, rs1885120), with replication in two further samples (combined <italic>P</italic>
<1 × 10<sup>-15</sup>
). The odds ratio is 1.75 (1.53, 2.01), with evidence for stronger association in early onset cases.</p>
</abstract>
<contract-num rid="CA1">R01 CA088363-07</contract-num>
<contract-num rid="CA1">R01 CA083115-08</contract-num>
<contract-sponsor id="CA1">National Cancer Institute : NCI</contract-sponsor>
</article-meta>
</front>
</pmc>
</record>
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