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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Localization of a Novel Melanoma Susceptibility Locus to 1p22</title><author><name sortKey="Gillanders, Elizabeth" sort="Gillanders, Elizabeth" uniqKey="Gillanders E" first="Elizabeth" last="Gillanders">Elizabeth Gillanders</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hank Juo, Suh Hang" sort="Hank Juo, Suh Hang" uniqKey="Hank Juo S" first="Suh-Hang" last="Hank Juo">Suh-Hang Hank Juo</name><affiliation><nlm:aff>NONE</nlm:aff></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="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff></affiliation></author><author><name sortKey="Jones, Marypat" sort="Jones, Marypat" uniqKey="Jones M" first="Marypat" last="Jones">Marypat Jones</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Nancarrow, Derek" sort="Nancarrow, Derek" uniqKey="Nancarrow D" first="Derek" last="Nancarrow">Derek Nancarrow</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Freas Lutz, Diana" sort="Freas Lutz, Diana" uniqKey="Freas Lutz D" first="Diana" last="Freas-Lutz">Diana Freas-Lutz</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Sood, Raman" sort="Sood, Raman" uniqKey="Sood R" first="Raman" last="Sood">Raman Sood</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Park, Naeun" sort="Park, Naeun" uniqKey="Park N" first="Naeun" last="Park">Naeun Park</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Columbia Genome Center and Department of Epidemiology, Columbia University, New York;</nlm:aff></affiliation></author><author><name sortKey="Faruque, Mezbah" sort="Faruque, Mezbah" uniqKey="Faruque M" first="Mezbah" last="Faruque">Mezbah Faruque</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Markey, Carol" sort="Markey, Carol" uniqKey="Markey C" first="Carol" last="Markey">Carol Markey</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></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="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff></affiliation></author><author><name sortKey="Palmer, Jane" sort="Palmer, Jane" uniqKey="Palmer J" first="Jane" last="Palmer">Jane Palmer</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff></affiliation></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D. Timothy" last="Bishop">D. Timothy Bishop</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A." last="Tucker">Margaret A. Tucker</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda;</nlm:aff></affiliation></author><author><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Institut Gustave Rousy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Department of Oncology-Pathology, Karolinska Hospital, Stockholm;</nlm:aff></affiliation></author><author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff></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><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, United Kingdom;</nlm:aff></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><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda;</nlm:aff></affiliation></author><author><name sortKey="Bailey Wilson, Joan E" sort="Bailey Wilson, Joan E" uniqKey="Bailey Wilson J" first="Joan E." last="Bailey-Wilson">Joan E. Bailey-Wilson</name><affiliation><nlm:aff wicri:cut="; and" id="N0x9295a80.0x8c336d0">Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore</nlm:aff></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="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff></affiliation></author><author><name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Trent, Jeffrey" sort="Trent, Jeffrey" uniqKey="Trent J" first="Jeffrey" last="Trent">Jeffrey Trent</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">12844286</idno><idno type="pmc">1180369</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180369</idno><idno type="RBID">PMC:1180369</idno><date when="2003">2003</date><idno type="wicri:Area/Pmc/Corpus">000033</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000033</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Localization of a Novel Melanoma Susceptibility Locus to 1p22</title><author><name sortKey="Gillanders, Elizabeth" sort="Gillanders, Elizabeth" uniqKey="Gillanders E" first="Elizabeth" last="Gillanders">Elizabeth Gillanders</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author><author><name sortKey="Hank Juo, Suh Hang" sort="Hank Juo, Suh Hang" uniqKey="Hank Juo S" first="Suh-Hang" last="Hank Juo">Suh-Hang Hank Juo</name><affiliation><nlm:aff>NONE</nlm:aff></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="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff></affiliation></author><author><name sortKey="Jones, Marypat" sort="Jones, Marypat" uniqKey="Jones M" first="Marypat" last="Jones">Marypat Jones</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Nancarrow, Derek" sort="Nancarrow, Derek" uniqKey="Nancarrow D" first="Derek" last="Nancarrow">Derek Nancarrow</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Freas Lutz, Diana" sort="Freas Lutz, Diana" uniqKey="Freas Lutz D" first="Diana" last="Freas-Lutz">Diana Freas-Lutz</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Sood, Raman" sort="Sood, Raman" uniqKey="Sood R" first="Raman" last="Sood">Raman Sood</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Park, Naeun" sort="Park, Naeun" uniqKey="Park N" first="Naeun" last="Park">Naeun Park</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Columbia Genome Center and Department of Epidemiology, Columbia University, New York;</nlm:aff></affiliation></author><author><name sortKey="Faruque, Mezbah" sort="Faruque, Mezbah" uniqKey="Faruque M" first="Mezbah" last="Faruque">Mezbah Faruque</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></affiliation></author><author><name sortKey="Markey, Carol" sort="Markey, Carol" uniqKey="Markey C" first="Carol" last="Markey">Carol Markey</name><affiliation><nlm:aff wicri:cut=", and" id="N0x9295a80.0x8c336d0">Cancer Genetics Branch, National Human Genome Research Institute</nlm:aff></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="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff></affiliation></author><author><name sortKey="Palmer, Jane" sort="Palmer, Jane" uniqKey="Palmer J" first="Jane" last="Palmer">Jane Palmer</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff></affiliation></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D. Timothy" last="Bishop">D. Timothy Bishop</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, United Kingdom;</nlm:aff></affiliation></author><author><name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A." last="Tucker">Margaret A. Tucker</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda;</nlm:aff></affiliation></author><author><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Institut Gustave Rousy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Department of Oncology-Pathology, Karolinska Hospital, Stockholm;</nlm:aff></affiliation></author><author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff></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><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, United Kingdom;</nlm:aff></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><nlm:aff id="N0x9295a80.0x8c336d0">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda;</nlm:aff></affiliation></author><author><name sortKey="Bailey Wilson, Joan E" sort="Bailey Wilson, Joan E" uniqKey="Bailey Wilson J" first="Joan E." last="Bailey-Wilson">Joan E. Bailey-Wilson</name><affiliation><nlm:aff wicri:cut="; and" id="N0x9295a80.0x8c336d0">Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore</nlm:aff></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="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff></affiliation></author><author><name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</name><affiliation><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff></affiliation></author><author><name sortKey="Trent, Jeffrey" sort="Trent, Jeffrey" uniqKey="Trent J" first="Jeffrey" last="Trent">Jeffrey Trent</name><affiliation><nlm:aff>NONE</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2003">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, <italic>CDKN2A</italic> and <italic>CDK4,</italic> have been shown to confer an increased risk of CMM, they account for only 20%–25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which <italic>CDKN2A</italic> and <italic>CDK4</italic> involvement has been excluded. The highest two-point parametric LOD score (1.82; recombination fraction [θ] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (<inline-formula>θ=0</inline-formula>) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores >3 in this subset, with the highest parametric LOD score, 4.95 (<inline-formula>θ=0</inline-formula>) (nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="publisher-id">AJHG</journal-id><journal-title>American Journal of Human Genetics</journal-title><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>The American Society of Human Genetics</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">12844286</article-id><article-id pub-id-type="pmc">1180369</article-id><article-id pub-id-type="publisher-id">35058</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject></subj-group></article-categories><title-group><article-title>Localization of a Novel Melanoma Susceptibility Locus to 1p22</article-title><alt-title>Localization of a Novel Melanoma Locus</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Gillanders</surname><given-names>Elizabeth</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1,</xref><xref ref-type="fn" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Hank Juo</surname><given-names>Suh-Hang</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">3,11,</xref><xref ref-type="fn" rid="FN1">*</xref></contrib><contrib contrib-type="author"><name><surname>Holland</surname><given-names>Elizabeth A.</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">4</xref></contrib><contrib contrib-type="author"><name><surname>Jones</surname><given-names>MaryPat</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1</xref></contrib><contrib contrib-type="author"><name><surname>Nancarrow</surname><given-names>Derek</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">5</xref></contrib><contrib contrib-type="author"><name><surname>Freas-Lutz</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1</xref></contrib><contrib contrib-type="author"><name><surname>Sood</surname><given-names>Raman</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1</xref></contrib><contrib contrib-type="author"><name><surname>Park</surname><given-names>Naeun</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">3</xref></contrib><contrib contrib-type="author"><name><surname>Faruque</surname><given-names>Mezbah</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1</xref></contrib><contrib contrib-type="author"><name><surname>Markey</surname><given-names>Carol</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1</xref></contrib><contrib contrib-type="author"><name><surname>Kefford</surname><given-names>Richard F.</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">4</xref></contrib><contrib contrib-type="author"><name><surname>Palmer</surname><given-names>Jane</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">5</xref></contrib><contrib contrib-type="author"><name><surname>Bergman</surname><given-names>Wilma</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">6</xref></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>D. Timothy</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">7</xref></contrib><contrib contrib-type="author"><name><surname>Tucker</surname><given-names>Margaret A.</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">2</xref></contrib><contrib contrib-type="author"><name><surname>Bressac-de Paillerets</surname><given-names>Brigitte</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">8</xref></contrib><contrib contrib-type="author"><name><surname>Hansson</surname><given-names>Johan</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">9</xref></contrib><contrib contrib-type="author"><collab>The Lund Melanoma Study Group</collab><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">10</xref></contrib><contrib contrib-type="author"><name><surname>Stark</surname><given-names>Mitchell</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">5</xref></contrib><contrib contrib-type="author"><name><surname>Gruis</surname><given-names>Nelleke</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">6</xref></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>Julia Newton</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">7</xref></contrib><contrib contrib-type="author"><name><surname>Goldstein</surname><given-names>Alisa M.</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">2</xref></contrib><contrib contrib-type="author"><name><surname>Bailey-Wilson</surname><given-names>Joan E.</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">11</xref></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>Graham J.</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">4</xref></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Nicholas</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">5</xref></contrib><contrib contrib-type="author"><name><surname>Trent</surname><given-names>Jeffrey</given-names></name><xref ref-type="aff" rid="N0x9295a80.0x8c336d0">1,12</xref></contrib><contrib contrib-type="author"><collab>The Melanoma Genetics Consortium</collab><xref ref-type="fn" rid="FN2">†</xref></contrib></contrib-group><aff id="N0x9295a80.0x8c336d0"><sup>1</sup>Cancer Genetics Branch, National Human Genome Research Institute, and<sup>2</sup>Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda;<sup>3</sup>Columbia Genome Center and Department of Epidemiology, Columbia University, New York;<sup>4</sup>Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;<sup>5</sup>Queensland Cancer Fund Research Unit, Brisbane, Australia;<sup>6</sup>Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;<sup>7</sup>Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, United Kingdom;<sup>8</sup>Institut Gustave Rousy, Villejuif, France;<sup>9</sup>Department of Oncology-Pathology, Karolinska Hospital, Stockholm;<sup>10</sup>Lund Cancer Center Department of Oncology, University Hospital, Lund, Sweden;<sup>11</sup>Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore; and<sup>12</sup>Translational Genomics Research Institute, Phoenix</aff><author-notes><corresp>Address for correspondence and reprints: Dr. Jeffrey Trent, Translational Genomics Research Institute, 400 North Fifth Street, Suite 1600, Phoenix, AZ 85004. E-mail: <email>jtrent@tgen.org</email></corresp><fn id="FN1"><label>*</label><p>Authors contributed equally to the work.</p></fn><fn id="FN2"><label>†</label><p>Members of the consortium are listed in the Acknowledgments section.</p></fn></author-notes><pub-date pub-type="ppub"><month>8</month><year>2003</year></pub-date><pub-date pub-type="epub"><day>3</day><month>7</month><year>2003</year></pub-date><volume>73</volume><issue>2</issue><fpage>301</fpage><lpage>313</lpage><history><date date-type="received"><day>7</day><month>3</month><year>2003</year></date><date date-type="accepted"><day>20</day><month>5</month><year>2003</year></date></history><copyright-statement>© 2003 by The American Society of Human Genetics. All rights reserved.</copyright-statement><copyright-year>2003</copyright-year><self-uri>12844286</self-uri><abstract><p>Over the past 20 years, the incidence of cutaneous malignant melanoma (CMM) has increased dramatically worldwide. A positive family history of the disease is among the most established risk factors for CMM; it is estimated that 10% of CMM cases result from an inherited predisposition. Although mutations in two genes, <italic>CDKN2A</italic> and <italic>CDK4,</italic> have been shown to confer an increased risk of CMM, they account for only 20%–25% of families with multiple cases of CMM. Therefore, to localize additional loci involved in melanoma susceptibility, we have performed a genomewide scan for linkage in 49 Australian pedigrees containing at least three CMM cases, in which <italic>CDKN2A</italic> and <italic>CDK4</italic> involvement has been excluded. The highest two-point parametric LOD score (1.82; recombination fraction [θ] 0.2) was obtained at D1S2726, which maps to the short arm of chromosome 1 (1p22). A parametric LOD score of 4.65 (<inline-formula>θ=0</inline-formula>) and a nonparametric LOD score of 4.19 were found at D1S2779 in nine families selected for early age at onset. Additional typing yielded seven adjacent markers with LOD scores >3 in this subset, with the highest parametric LOD score, 4.95 (<inline-formula>θ=0</inline-formula>) (nonparametric LOD score 5.37), at D1S2776. Analysis of 33 additional multiplex families with CMM from several continents provided further evidence for linkage to the 1p22 region, again strongest in families with the earliest mean age at diagnosis. A nonparametric ordered sequential analysis was used, based on the average age at diagnosis in each family. The highest LOD score, 6.43, was obtained at D1S2779 and occurred when the 15 families with the earliest ages at onset were included. These data provide significant evidence of a novel susceptibility gene for CMM located within chromosome band 1p22.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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