Localization of a Novel Melanoma Susceptibility Locus to 1p22
Identifieur interne : 000081 ( Ncbi/Checkpoint ); précédent : 000080; suivant : 000082Localization of a Novel Melanoma Susceptibility Locus to 1p22
Auteurs : Elizabeth Gillanders ; Suh-Hang Hank Juo ; Elizabeth A. Holland [Australie] ; Marypat Jones ; Derek Nancarrow [Australie] ; Diana Freas-Lutz ; Raman Sood ; Naeun Park [États-Unis] ; Mezbah Faruque ; Carol Markey ; Richard F. Kefford [Australie] ; Jane Palmer [Australie] ; Wilma Bergman [Pays-Bas] ; D. Timothy Bishop [Royaume-Uni] ; Margaret A. Tucker ; Brigitte Bressac-De Paillerets [France] ; Johan Hansson [Suède] ; Mitchell Stark [Australie] ; Nelleke Gruis [Pays-Bas] ; Julia Newton Bishop [Royaume-Uni] ; Alisa M. Goldstein ; Joan E. Bailey-Wilson [États-Unis] ; Graham J. Mann [Australie] ; Nicholas Hayward [Australie] ; Jeffrey TrentSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2003.
Abstract
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,
Url:
PubMed: 12844286
PubMed Central: 1180369
Affiliations:
- Australie, France, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Hollande-Méridionale, Maryland, Nouvelle-Galles du Sud, Svealand, État de New York
- Baltimore, Leyde, Stockholm, Sydney
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000033
- to stream Pmc, to step Curation: 000033
- to stream Pmc, to step Checkpoint: 002D07
- to stream Ncbi, to step Merge: 000081
- to stream Ncbi, to step Curation: 000081
Links to Exploration step
PMC:1180369Le document en format XML
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Localization of a Novel Melanoma Susceptibility Locus to 1p22</title>
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</affiliation>
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<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>
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</affiliation>
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<author><name sortKey="Holland, Elizabeth A" sort="Holland, Elizabeth A" uniqKey="Holland E" first="Elizabeth A." last="Holland">Elizabeth A. Holland</name>
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<country>Australie</country>
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<wicri:noCountry code="subfield">National Human Genome Research Institute</wicri:noCountry>
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<author><name sortKey="Nancarrow, Derek" sort="Nancarrow, Derek" uniqKey="Nancarrow D" first="Derek" last="Nancarrow">Derek Nancarrow</name>
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<author><name sortKey="Park, Naeun" sort="Park, Naeun" uniqKey="Park N" first="Naeun" last="Park">Naeun Park</name>
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<author><name sortKey="Markey, Carol" sort="Markey, Carol" uniqKey="Markey C" first="Carol" last="Markey">Carol Markey</name>
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<wicri:noCountry code="subfield">National Human Genome Research Institute</wicri:noCountry>
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<author><name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F." last="Kefford">Richard F. Kefford</name>
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<author><name sortKey="Palmer, Jane" sort="Palmer, Jane" uniqKey="Palmer J" first="Jane" last="Palmer">Jane Palmer</name>
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<author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name>
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<author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D. Timothy" last="Bishop">D. Timothy Bishop</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<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>
<wicri:noCountry code="subfield">Bethesda</wicri:noCountry>
</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 wicri:level="1"><nlm:aff id="N0x9295a80.0x8c336d0">Institut Gustave Rousy, Villejuif, France;</nlm:aff>
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</affiliation>
</author>
<author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
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<country>Suède</country>
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</placeName>
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<author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name>
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<wicri:noRegion>Brisbane</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name>
<affiliation wicri:level="3"><nlm:aff id="N0x9295a80.0x8c336d0">Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands;</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</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="N0x9295a80.0x8c336d0">Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds, United Kingdom;</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Genetic Epidemiology Division, Cancer Research UK Clinical Centre, Leeds</wicri:regionArea>
<wicri:noRegion>Leeds</wicri:noRegion>
</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>
<wicri:noCountry code="subfield">Bethesda</wicri:noCountry>
</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 wicri:level="3"><nlm:aff wicri:cut="; and" id="N0x9295a80.0x8c336d0">Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore</nlm:aff>
<country>États-Unis</country>
<placeName><settlement type="city">Baltimore</settlement>
<region type="state">Maryland</region>
</placeName>
<wicri:orgArea>Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health</wicri:orgArea>
</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 wicri:level="3"><nlm:aff id="N0x9295a80.0x8c336d0">Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, Sydney;</nlm:aff>
<country>Australie</country>
<placeName><settlement type="city">Sydney</settlement>
<region type="état">Nouvelle-Galles du Sud</region>
</placeName>
<wicri:orgArea>Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</name>
<affiliation wicri:level="1"><nlm:aff id="N0x9295a80.0x8c336d0">Queensland Cancer Fund Research Unit, Brisbane, Australia;</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Cancer Fund Research Unit, Brisbane</wicri:regionArea>
<wicri:noRegion>Brisbane</wicri:noRegion>
</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>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region><li>Hollande-Méridionale</li>
<li>Maryland</li>
<li>Nouvelle-Galles du Sud</li>
<li>Svealand</li>
<li>État de New York</li>
</region>
<settlement><li>Baltimore</li>
<li>Leyde</li>
<li>Stockholm</li>
<li>Sydney</li>
</settlement>
</list>
<tree><noCountry><name sortKey="Faruque, Mezbah" sort="Faruque, Mezbah" uniqKey="Faruque M" first="Mezbah" last="Faruque">Mezbah Faruque</name>
<name sortKey="Freas Lutz, Diana" sort="Freas Lutz, Diana" uniqKey="Freas Lutz D" first="Diana" last="Freas-Lutz">Diana Freas-Lutz</name>
<name sortKey="Gillanders, Elizabeth" sort="Gillanders, Elizabeth" uniqKey="Gillanders E" first="Elizabeth" last="Gillanders">Elizabeth Gillanders</name>
<name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M." last="Goldstein">Alisa M. Goldstein</name>
<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>
<name sortKey="Jones, Marypat" sort="Jones, Marypat" uniqKey="Jones M" first="Marypat" last="Jones">Marypat Jones</name>
<name sortKey="Markey, Carol" sort="Markey, Carol" uniqKey="Markey C" first="Carol" last="Markey">Carol Markey</name>
<name sortKey="Sood, Raman" sort="Sood, Raman" uniqKey="Sood R" first="Raman" last="Sood">Raman Sood</name>
<name sortKey="Trent, Jeffrey" sort="Trent, Jeffrey" uniqKey="Trent J" first="Jeffrey" last="Trent">Jeffrey Trent</name>
<name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A." last="Tucker">Margaret A. Tucker</name>
</noCountry>
<country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Holland, Elizabeth A" sort="Holland, Elizabeth A" uniqKey="Holland E" first="Elizabeth A." last="Holland">Elizabeth A. Holland</name>
</region>
<name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</name>
<name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F." last="Kefford">Richard F. Kefford</name>
<name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J." last="Mann">Graham J. Mann</name>
<name sortKey="Nancarrow, Derek" sort="Nancarrow, Derek" uniqKey="Nancarrow D" first="Derek" last="Nancarrow">Derek Nancarrow</name>
<name sortKey="Palmer, Jane" sort="Palmer, Jane" uniqKey="Palmer J" first="Jane" last="Palmer">Jane Palmer</name>
<name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name>
</country>
<country name="États-Unis"><region name="État de New York"><name sortKey="Park, Naeun" sort="Park, Naeun" uniqKey="Park N" first="Naeun" last="Park">Naeun Park</name>
</region>
<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>
</country>
<country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name>
</region>
<name sortKey="Gruis, Nelleke" sort="Gruis, Nelleke" uniqKey="Gruis N" first="Nelleke" last="Gruis">Nelleke Gruis</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D. Timothy" last="Bishop">D. Timothy Bishop</name>
</noRegion>
<name sortKey="Bishop, Julia Newton" sort="Bishop, Julia Newton" uniqKey="Bishop J" first="Julia Newton" last="Bishop">Julia Newton Bishop</name>
</country>
<country name="France"><noRegion><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>
</noRegion>
</country>
<country name="Suède"><region name="Svealand"><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
</region>
</country>
</tree>
</affiliations>
</record>
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