Localization of a novel melanoma susceptibility locus to 1p22
Identifieur interne : 00B136 ( Main/Exploration ); précédent : 00B135; suivant : 00B137Localization of a novel melanoma susceptibility locus to 1p22
Auteurs : Elizabeth Gillanders [États-Unis] ; Suh-Hang Hank Juo [États-Unis] ; Elizabeth A. Holland [Canada] ; Marypat Jones [États-Unis] ; Derek Nancarrow [Australie] ; Diana Freas-Lutz [États-Unis] ; Raman Sood [États-Unis] ; Naeun Park [États-Unis] ; Mezbah Faruque [États-Unis] ; Carol Markey [États-Unis] ; Richard F. Kefford [Canada] ; Jane Palmer [Australie] ; Wilma Bergman [Pays-Bas] ; D. Timothy Bishop [Royaume-Uni] ; Margaret A. Tucker [États-Unis] ; Brigitte Bressac-De Paillerets [France] ; Johan Hansson [Suède] ; Mitchell Stark [Australie] ; Nelleke Gruis [Pays-Bas] ; Julia Newton Bishop [Royaume-Uni] ; Alisa M. Goldstein [États-Unis] ; Joan E. Bailey-Wilson [États-Unis] ; Graham J. Mann [Canada] ; Nicholas Hayward [Australie] ; Jeffrey Trent [États-Unis]Source :
- American journal of human genetics [ 0002-9297 ] ; 2003.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
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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, CDKN2A and CDK4, 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 CDKN2A and CDK4 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 (θ = 0) 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 (θ = 0) (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.
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Affiliations:
- Australie, Canada, France, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Hollande-Méridionale, Maryland, Nouvelle-Galles du Sud, Svealand, État de New York
- Baltimore, Leyde, New York, Stockholm, Sydney
- Université Columbia
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Bailey-Wilson</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Baltimore</s2><s3>USA</s3><sZ>22 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Baltimore</settlement><region type="state">Maryland</region></placeName></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"><inist:fA14 i1="03"><s1>Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute</s1><s2>Sydney</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>11 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Queensland Cancer Fund Research Unit</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Queensland Cancer Fund Research Unit</wicri:noRegion></affiliation></author><author><name sortKey="Trent, Jeffrey" sort="Trent, Jeffrey" uniqKey="Trent J" first="Jeffrey" last="Trent">Jeffrey Trent</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Translational Genomics Research Institute</s1><s2>Phoenix</s2><s3>USA</s3><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Translational Genomics Research Institute</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">04-0074097</idno><date when="2003">2003</date><idno type="stanalyst">PASCAL 04-0074097 INIST</idno><idno type="RBID">Pascal:04-0074097</idno><idno type="wicri:Area/PascalFrancis/Corpus">005068</idno><idno type="wicri:Area/PascalFrancis/Curation">001046</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">004F12</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004F12</idno><idno type="wicri:doubleKey">0002-9297:2003:Gillanders E:localization:of:a</idno><idno type="wicri:Area/Main/Merge">00BE97</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180369</idno><idno type="RBID">PMC:1180369</idno><idno type="wicri:Area/Pmc/Corpus">000033</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000033</idno><idno type="wicri:Area/Pmc/Curation">000033</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000033</idno><idno type="wicri:Area/Pmc/Checkpoint">002D07</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002D07</idno><idno type="wicri:Area/Ncbi/Merge">000081</idno><idno type="wicri:Area/Ncbi/Curation">000081</idno><idno type="wicri:Area/Ncbi/Checkpoint">000081</idno><idno type="wicri:doubleKey">0002-9297:2003:Gillanders E:localization:of:a</idno><idno type="wicri:Area/Main/Merge">00BB74</idno><idno type="wicri:Area/Main/Curation">00B136</idno><idno type="wicri:Area/Main/Exploration">00B136</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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 wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Juo, Suh Hang Hank" sort="Juo, Suh Hang Hank" uniqKey="Juo S" first="Suh-Hang Hank" last="Juo">Suh-Hang Hank Juo</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Columbia Genome Center and Department of Epidemiology, Columbia University</s1><s2>New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></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 wicri:level="3"><inist:fA14 i1="03"><s1>Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute</s1><s2>Sydney</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>11 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Jones, Marypat" sort="Jones, Marypat" uniqKey="Jones M" first="Marypat" last="Jones">Marypat Jones</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Nancarrow, Derek" sort="Nancarrow, Derek" uniqKey="Nancarrow D" first="Derek" last="Nancarrow">Derek Nancarrow</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Queensland Cancer Fund Research Unit</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Queensland Cancer Fund Research Unit</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Sood, Raman" sort="Sood, Raman" uniqKey="Sood R" first="Raman" last="Sood">Raman Sood</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Park, Naeun" sort="Park, Naeun" uniqKey="Park N" first="Naeun" last="Park">Naeun Park</name><affiliation wicri:level="4"><inist:fA14 i1="02"><s1>Columbia Genome Center and Department of Epidemiology, Columbia University</s1><s2>New York</s2><s3>USA</s3><sZ>2 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Faruque, Mezbah" sort="Faruque, Mezbah" uniqKey="Faruque M" first="Mezbah" last="Faruque">Mezbah Faruque</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation></author><author><name sortKey="Markey, Carol" sort="Markey, Carol" uniqKey="Markey C" first="Carol" last="Markey">Carol Markey</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="03"><s1>Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute</s1><s2>Sydney</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>11 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Palmer, Jane" sort="Palmer, Jane" uniqKey="Palmer J" first="Jane" last="Palmer">Jane Palmer</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Queensland Cancer Fund Research Unit</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Queensland Cancer Fund Research Unit</wicri:noRegion></affiliation></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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 wicri:level="1"><inist:fA14 i1="06"><s1>Genetic Epidemiology Division, Cancer Research UK Clinical centre</s1><s2>Leeds</s2><s3>GBR</s3><sZ>14 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Leeds</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="07"><s1>Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>15 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></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"><inist:fA14 i1="08"><s1>Institut Gustave Rousy</s1><s2>Villejuif</s2><s3>FRA</s3><sZ>16 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Institut Gustave Rousy</wicri:noRegion><wicri:noRegion>Institut Gustave Rousy</wicri:noRegion></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Department of Oncology-Pathology, Karolinska Hospital</s1><s2>Stockholm</s2><s3>SWE</s3><sZ>17 aut.</sZ></inist:fA14><country>Suède</country><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Stark, Mitchell" sort="Stark, Mitchell" uniqKey="Stark M" first="Mitchell" last="Stark">Mitchell Stark</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Queensland Cancer Fund Research Unit</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Queensland Cancer Fund Research Unit</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"><inist:fA14 i1="05"><s1>Department of Dermatology and Center for Human and Clinical Genetics, Leiden University Medical Center</s1><s2>Leiden</s2><s3>NLD</s3><sZ>13 aut.</sZ><sZ>19 aut.</sZ></inist:fA14><country>Pays-Bas</country><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"><inist:fA14 i1="06"><s1>Genetic Epidemiology Division, Cancer Research UK Clinical centre</s1><s2>Leeds</s2><s3>GBR</s3><sZ>14 aut.</sZ><sZ>20 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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 wicri:level="1"><inist:fA14 i1="07"><s1>Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>15 aut.</sZ><sZ>21 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></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"><inist:fA14 i1="10"><s1>Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Baltimore</s2><s3>USA</s3><sZ>22 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Baltimore</settlement><region type="state">Maryland</region></placeName></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"><inist:fA14 i1="03"><s1>Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute</s1><s2>Sydney</s2><s3>CAN</s3><sZ>3 aut.</sZ><sZ>11 aut.</sZ><sZ>23 aut.</sZ></inist:fA14><country>Canada</country><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Queensland Cancer Fund Research Unit</s1><s2>Brisbane</s2><s3>AUS</s3><sZ>5 aut.</sZ><sZ>12 aut.</sZ><sZ>18 aut.</sZ><sZ>24 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Queensland Cancer Fund Research Unit</wicri:noRegion></affiliation></author><author><name sortKey="Trent, Jeffrey" sort="Trent, Jeffrey" uniqKey="Trent J" first="Jeffrey" last="Trent">Jeffrey Trent</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health</s1><s2>Bethesda</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>4 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Bethesda</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Translational Genomics Research Institute</s1><s2>Phoenix</s2><s3>USA</s3><sZ>25 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Translational Genomics Research Institute</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2003">2003</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome A1</term><term>Family study</term><term>Gene</term><term>Genetic determinism</term><term>Genetic linkage</term><term>Human</term><term>Malignant melanoma</term><term>Pathogenesis</term><term>Risk factor</term><term>Short arm</term><term>Skin</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Mélanome malin</term><term>Peau</term><term>Gène</term><term>Facteur risque</term><term>Déterminisme génétique</term><term>Pathogénie</term><term>Chromosome A1</term><term>Bras court</term><term>Homme</term><term>Etude familiale</term><term>Liaison génétique</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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, CDKN2A and CDK4, 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 CDKN2A and CDK4 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 (θ = 0) 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 (θ = 0) (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.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</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>New York</li><li>Stockholm</li><li>Sydney</li></settlement><orgName><li>Université Columbia</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Gillanders, Elizabeth" sort="Gillanders, Elizabeth" uniqKey="Gillanders E" first="Elizabeth" last="Gillanders">Elizabeth Gillanders</name></noRegion><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><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="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M." last="Goldstein">Alisa M. Goldstein</name><name sortKey="Jones, Marypat" sort="Jones, Marypat" uniqKey="Jones M" first="Marypat" last="Jones">Marypat Jones</name><name sortKey="Juo, Suh Hang Hank" sort="Juo, Suh Hang Hank" uniqKey="Juo S" first="Suh-Hang Hank" last="Juo">Suh-Hang Hank Juo</name><name sortKey="Markey, Carol" sort="Markey, Carol" uniqKey="Markey C" first="Carol" last="Markey">Carol Markey</name><name sortKey="Park, Naeun" sort="Park, Naeun" uniqKey="Park N" first="Naeun" last="Park">Naeun Park</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="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></country><country name="Canada"><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="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></country><country name="Australie"><noRegion><name sortKey="Nancarrow, Derek" sort="Nancarrow, Derek" uniqKey="Nancarrow D" first="Derek" last="Nancarrow">Derek Nancarrow</name></noRegion><name sortKey="Hayward, Nicholas" sort="Hayward, Nicholas" uniqKey="Hayward N" first="Nicholas" last="Hayward">Nicholas Hayward</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="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>Pour manipuler ce document sous Unix (Dilib)
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