Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions
Identifieur interne : 003939 ( Main/Exploration ); précédent : 003938; suivant : 003940Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions
Auteurs : Jennifer H. Barrett [Royaume-Uni] ; John C. Taylor [Royaume-Uni] ; Chloe Bright [Royaume-Uni] ; Mark Harland [Royaume-Uni] ; Alison M. Dunning [Royaume-Uni] ; Lars A. Akslen [Norvège] ; Per A. Andresen [Norvège] ; Marie-Françoise Avril [France] ; Esther Azizi [Israël] ; Giovanna Bianchi Scarrà [Italie] ; Myriam Brossard [France] ; Kevin M. Brown [États-Unis] ; Tadeusz D Bniak [Pologne] ; David E. Elder [États-Unis] ; Eitan Friedman [Israël] ; Paola Ghiorzo [Italie] ; Elizabeth M. Gillanders [États-Unis] ; Nelleke A. Gruis [Pays-Bas] ; Johan Hansson [Suède] ; Per Helsing [Norvège] ; Marko Ho Evar [Slovénie] ; Veronica Höiom [Suède] ; Christian Ingvar [Suède] ; Maria Teresa Landi [États-Unis] ; Julie Lang [Royaume-Uni] ; G Mark Lathrop [Canada, France] ; Jan Lubi Ski [Pologne] ; Rona M. Mackie [Royaume-Uni] ; Anders Molven [Norvège] ; Srdjan Novakovi [Slovénie] ; H Kan Olsson ; Susana Puig [Espagne] ; Joan Anton Puig-Butille [Espagne] ; Nienke Van Der Stoep [Pays-Bas] ; Remco Van Doorn [Pays-Bas] ; Wilbert Van Workum [Pays-Bas] ; Alisa M. Goldstein [États-Unis] ; Peter A. Kanetsky [États-Unis] ; Paul D P. Pharoah [Royaume-Uni] ; Florence Demenais [France] ; Nicholas K. Hayward [Australie] ; Julia A. Newton Bishop [Royaume-Uni] ; D Timothy Bishop [Royaume-Uni] ; Mark M. Iles [Royaume-Uni]Source :
- International Journal of Cancer. Journal International du Cancer [ 0020-7136 ] ; 2014.
Abstract
At least 17 genomic regions are established as harboring melanoma susceptibility variants, in most instances with genome-wide levels of significance and replication in independent samples. Based on genome-wide single nucleotide polymorphism (SNP) data augmented by imputation to the 1,000 Genomes reference panel, we have fine mapped these regions in over 5,000 individuals with melanoma (mainly from the GenoMEL consortium) and over 7,000 ethnically matched controls. A penalized regression approach was used to discover those SNP markers that most parsimoniously explain the observed association in each genomic region. For the majority of the regions, the signal is best explained by a single SNP, which sometimes, as in the tyrosinase region, is a known functional variant. However in five regions the explanation is more complex. At the
Url:
DOI: 10.1002/ijc.29099
PubMed: 25077817
PubMed Central: 4328144
Affiliations:
- Australie, Canada, Espagne, France, Israël, Italie, Norvège, Pays-Bas, Pologne, Royaume-Uni, Slovénie, Suède, États-Unis
- Floride, Maryland, Pennsylvanie, Svealand, Østlandet
- Oslo, Stockholm
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Le document en format XML
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Brown</name><affiliation wicri:level="2"><nlm:aff id="au13"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution><addr-line>Bethesda, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="D Bniak, Tadeusz" sort="D Bniak, Tadeusz" uniqKey="D Bniak T" first="Tadeusz" last="D Bniak">Tadeusz D Bniak</name><affiliation wicri:level="1"><nlm:aff id="au14"><institution>International Hereditary Cancer Center, Pomeranian Medical University</institution><addr-line>Szczecin, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Szczecin</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="2"><nlm:aff id="au15"><institution>Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania</institution><addr-line>Philadelphia, PA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation wicri:level="1"><nlm:aff id="au8"><institution>Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University</institution><addr-line>Tel Aviv, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Tel Aviv</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="au9"><institution>Department of Internal Medicine and Medical Specialties, University of Genoa</institution><addr-line>Genoa, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Genoa</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au10"><institution>Laboratory of Genetics of Rare Hereditary Cancers, IRCCS AOU San Martino-IST</institution><addr-line>Genoa, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Genoa</wicri:regionArea></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="2"><nlm:aff id="au16"><institution>Epidemiology and Genomics Research Program, Division of Cancer control and Population Sciences, National Human Genome Research Institute, National Institutes of Health</institution><addr-line>Baltimore, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Baltimore</wicri:cityArea></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="au17"><institution>Department of Dermatology, Leiden University Medical Centre</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</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="3"><nlm:aff id="au18"><institution>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital</institution><addr-line>Solna, S-171 76, Stockholm, Sweden</addr-line></nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Solna, S-171 76, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Helsing, Per" sort="Helsing, Per" uniqKey="Helsing P" first="Per" last="Helsing">Per Helsing</name><affiliation wicri:level="3"><nlm:aff id="au19"><institution>Department of Dermatology, Oslo University Hospital</institution><addr-line>Rikshospitalet, N-0027, Oslo, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Rikshospitalet, N-0027, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Ho Evar, Marko" sort="Ho Evar, Marko" uniqKey="Ho Evar M" first="Marko" last="Ho Evar">Marko Ho Evar</name><affiliation wicri:level="1"><nlm:aff id="au20"><institution>Department of Surgical Oncology, Institute of Oncology Ljubljana</institution><addr-line>Zaloška 2, 1000, Ljubljana, Slovenia</addr-line></nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Zaloška 2, 1000, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><affiliation wicri:level="3"><nlm:aff id="au18"><institution>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital</institution><addr-line>Solna, S-171 76, Stockholm, Sweden</addr-line></nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Solna, S-171 76, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name><affiliation wicri:level="1"><nlm:aff id="au21"><institution>Department of Surgery, Clinical Sciences, Lund University</institution><addr-line>Lund, Sweden</addr-line></nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Lund</wicri:regionArea></affiliation></author><author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name><affiliation wicri:level="2"><nlm:aff id="au13"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution><addr-line>Bethesda, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name><affiliation wicri:level="1"><nlm:aff id="au22"><institution>Department of Medical Genetics, University of Glasgow</institution><addr-line>Glasgow, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Lathrop, G Mark" sort="Lathrop, G Mark" uniqKey="Lathrop G" first="G Mark" last="Lathrop">G Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="au23"><institution>McGill University and Genome Quebec Innovation Centre</institution><addr-line>Montreal, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au24"><institution>Commissariat à l'Energie Atomique (CEA), Institut de Génomique, Centre National de Génotypage</institution><addr-line>Evry, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Evry</wicri:regionArea></affiliation></author><author><name sortKey="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name><affiliation wicri:level="1"><nlm:aff id="au14"><institution>International Hereditary Cancer Center, Pomeranian Medical University</institution><addr-line>Szczecin, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Szczecin</wicri:regionArea></affiliation></author><author><name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M" last="Mackie">Rona M. Mackie</name><affiliation wicri:level="1"><nlm:aff id="au25"><institution>Department of Public Health</institution><addr-line>Glasgow, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Glasgow</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au26"><institution>Department of Medical Genetics</institution><addr-line>Glasgow, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Molven, Anders" sort="Molven, Anders" uniqKey="Molven A" first="Anders" last="Molven">Anders Molven</name><affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Pathology, Haukeland University Hospital</institution><addr-line>Bergen, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Bergen</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au27"><institution>Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen</institution><addr-line>Bergen, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Bergen</wicri:regionArea></affiliation></author><author><name sortKey="Novakovi, Srdjan" sort="Novakovi, Srdjan" uniqKey="Novakovi S" first="Srdjan" last="Novakovi">Srdjan Novakovi</name><affiliation wicri:level="1"><nlm:aff id="au28"><institution>Department of Molecular Diagnostics, Institute of Oncology Ljubljana</institution><addr-line>Zaloška 2, 1000, Ljubljana, Slovenia</addr-line></nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Zaloška 2, 1000, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></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="au29"><institution>Department of Oncology, Clinical Sciences, Lund University</institution><addr-line>Sweden</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au30"><institution>Department of Cancer Epidemiology, Clinical Sciences, Lund University</institution><addr-line>Sweden</addr-line></nlm:aff></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="au31"><institution>Melanoma Unit, Dermatology Department, Hospital Clinic, Institut de Investigacó Biomèdica August Pi Suñe, Universitat de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au32"><institution>CIBER de Enfermedades Raras, Instituto de Salud Carlos III</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Puig Butille, Joan Anton" sort="Puig Butille, Joan Anton" uniqKey="Puig Butille J" first="Joan Anton" last="Puig-Butille">Joan Anton Puig-Butille</name><affiliation wicri:level="1"><nlm:aff id="au31"><institution>Melanoma Unit, Dermatology Department, Hospital Clinic, Institut de Investigacó Biomèdica August Pi Suñe, Universitat de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au32"><institution>CIBER de Enfermedades Raras, Instituto de Salud Carlos III</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Stoep, Nienke" sort="Van Der Stoep, Nienke" uniqKey="Van Der Stoep N" first="Nienke" last="Van Der Stoep">Nienke Van Der Stoep</name><affiliation wicri:level="1"><nlm:aff id="au33"><institution>Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name><affiliation wicri:level="1"><nlm:aff id="au17"><institution>Department of Dermatology, Leiden University Medical Centre</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Van Workum, Wilbert" sort="Van Workum, Wilbert" uniqKey="Van Workum W" first="Wilbert" last="Van Workum">Wilbert Van Workum</name><affiliation wicri:level="1"><nlm:aff id="au34"><institution>ServiceXS B.V.</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</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="2"><nlm:aff id="au13"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution><addr-line>Bethesda, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name><affiliation wicri:level="2"><nlm:aff id="au35"><institution>Department of Cancer Epidemiology, Moffitt Cancer Center</institution><addr-line>Tampa, FL</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Tampa</wicri:cityArea></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D P" last="Pharoah">Paul D P. Pharoah</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Department of Oncology, University of Cambridge</institution><addr-line>Cambridge, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au36"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory</institution><addr-line>Cambridge, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge</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="au11"><institution>INSERM, UMR-946, Genetic Variation and Human Diseases Unit</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au12"><institution>Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></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 wicri:level="1"><nlm:aff id="au37"><institution>Oncogenomics, QIMR Berghofer Medical Research Institute</institution><addr-line>Brisbane, QLD, 4029, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Brisbane, QLD, 4029</wicri:regionArea><wicri:noRegion>4029</wicri:noRegion></affiliation></author><author><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton Bishop">Julia A. Newton Bishop</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></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"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25077817</idno><idno type="pmc">4328144</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4328144</idno><idno type="RBID">PMC:4328144</idno><idno type="doi">10.1002/ijc.29099</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">002595</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002595</idno><idno type="wicri:Area/Pmc/Curation">002445</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">002445</idno><idno type="wicri:Area/Pmc/Checkpoint">001588</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">001588</idno><idno type="wicri:Area/Ncbi/Merge">001C73</idno><idno type="wicri:Area/Ncbi/Curation">001C73</idno><idno type="wicri:Area/Ncbi/Checkpoint">001C73</idno><idno type="wicri:doubleKey">0020-7136:2014:Barrett J:fine:mapping:of</idno><idno type="wicri:Area/Main/Merge">003976</idno><idno type="wicri:Area/Main/Curation">003939</idno><idno type="wicri:Area/Main/Exploration">003939</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions</title><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Taylor, John C" sort="Taylor, John C" uniqKey="Taylor J" first="John C" last="Taylor">John C. Taylor</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Bright, Chloe" sort="Bright, Chloe" uniqKey="Bright C" first="Chloe" last="Bright">Chloe Bright</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M" last="Dunning">Alison M. Dunning</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Department of Oncology, University of Cambridge</institution><addr-line>Cambridge, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge</wicri:regionArea></affiliation></author><author><name sortKey="Akslen, Lars A" sort="Akslen, Lars A" uniqKey="Akslen L" first="Lars A" last="Akslen">Lars A. Akslen</name><affiliation wicri:level="1"><nlm:aff id="au3"><institution>Centre for Cancer Biomarkers CCBIO, Department of Clinical Medicine, University of Bergen</institution><addr-line>Bergen, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Bergen</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Pathology, Haukeland University Hospital</institution><addr-line>Bergen, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Bergen</wicri:regionArea></affiliation></author><author><name sortKey="Andresen, Per A" sort="Andresen, Per A" uniqKey="Andresen P" first="Per A" last="Andresen">Per A. Andresen</name><affiliation wicri:level="3"><nlm:aff id="au5"><institution>Department of Pathology, Molecular Pathology, Oslo University Hospital</institution><addr-line>Rikshospitalet, Oslo, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Rikshospitalet, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name><affiliation wicri:level="1"><nlm:aff id="au6"><institution>Assistance Publique–Hôpitaux de Paris, Hôpital Cochin, Service de Dermatologie, Université Paris Descartes</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></affiliation></author><author><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name><affiliation wicri:level="1"><nlm:aff id="au7"><institution>Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine</institution><addr-line>Tel Aviv, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Tel Aviv</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au8"><institution>Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University</institution><addr-line>Tel Aviv, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Tel Aviv</wicri:regionArea></affiliation></author><author><name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi Scarrà">Giovanna Bianchi Scarrà</name><affiliation wicri:level="1"><nlm:aff id="au9"><institution>Department of Internal Medicine and Medical Specialties, University of Genoa</institution><addr-line>Genoa, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Genoa</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au10"><institution>Laboratory of Genetics of Rare Hereditary Cancers, IRCCS AOU San Martino-IST</institution><addr-line>Genoa, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Genoa</wicri:regionArea></affiliation></author><author><name sortKey="Brossard, Myriam" sort="Brossard, Myriam" uniqKey="Brossard M" first="Myriam" last="Brossard">Myriam Brossard</name><affiliation wicri:level="1"><nlm:aff id="au11"><institution>INSERM, UMR-946, Genetic Variation and Human Diseases Unit</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au12"><institution>Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></affiliation></author><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="2"><nlm:aff id="au13"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution><addr-line>Bethesda, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="D Bniak, Tadeusz" sort="D Bniak, Tadeusz" uniqKey="D Bniak T" first="Tadeusz" last="D Bniak">Tadeusz D Bniak</name><affiliation wicri:level="1"><nlm:aff id="au14"><institution>International Hereditary Cancer Center, Pomeranian Medical University</institution><addr-line>Szczecin, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Szczecin</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="2"><nlm:aff id="au15"><institution>Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania</institution><addr-line>Philadelphia, PA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Philadelphia</wicri:cityArea></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation wicri:level="1"><nlm:aff id="au8"><institution>Oncogenetics Unit, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University</institution><addr-line>Tel Aviv, Israel</addr-line></nlm:aff><country xml:lang="fr">Israël</country><wicri:regionArea>Tel Aviv</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="au9"><institution>Department of Internal Medicine and Medical Specialties, University of Genoa</institution><addr-line>Genoa, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Genoa</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au10"><institution>Laboratory of Genetics of Rare Hereditary Cancers, IRCCS AOU San Martino-IST</institution><addr-line>Genoa, Italy</addr-line></nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Genoa</wicri:regionArea></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="2"><nlm:aff id="au16"><institution>Epidemiology and Genomics Research Program, Division of Cancer control and Population Sciences, National Human Genome Research Institute, National Institutes of Health</institution><addr-line>Baltimore, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Baltimore</wicri:cityArea></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="au17"><institution>Department of Dermatology, Leiden University Medical Centre</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</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="3"><nlm:aff id="au18"><institution>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital</institution><addr-line>Solna, S-171 76, Stockholm, Sweden</addr-line></nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Solna, S-171 76, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Helsing, Per" sort="Helsing, Per" uniqKey="Helsing P" first="Per" last="Helsing">Per Helsing</name><affiliation wicri:level="3"><nlm:aff id="au19"><institution>Department of Dermatology, Oslo University Hospital</institution><addr-line>Rikshospitalet, N-0027, Oslo, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Rikshospitalet, N-0027, Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Ho Evar, Marko" sort="Ho Evar, Marko" uniqKey="Ho Evar M" first="Marko" last="Ho Evar">Marko Ho Evar</name><affiliation wicri:level="1"><nlm:aff id="au20"><institution>Department of Surgical Oncology, Institute of Oncology Ljubljana</institution><addr-line>Zaloška 2, 1000, Ljubljana, Slovenia</addr-line></nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Zaloška 2, 1000, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><affiliation wicri:level="3"><nlm:aff id="au18"><institution>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital</institution><addr-line>Solna, S-171 76, Stockholm, Sweden</addr-line></nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Solna, S-171 76, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></affiliation></author><author><name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name><affiliation wicri:level="1"><nlm:aff id="au21"><institution>Department of Surgery, Clinical Sciences, Lund University</institution><addr-line>Lund, Sweden</addr-line></nlm:aff><country xml:lang="fr">Suède</country><wicri:regionArea>Lund</wicri:regionArea></affiliation></author><author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name><affiliation wicri:level="2"><nlm:aff id="au13"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution><addr-line>Bethesda, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name><affiliation wicri:level="1"><nlm:aff id="au22"><institution>Department of Medical Genetics, University of Glasgow</institution><addr-line>Glasgow, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Lathrop, G Mark" sort="Lathrop, G Mark" uniqKey="Lathrop G" first="G Mark" last="Lathrop">G Mark Lathrop</name><affiliation wicri:level="1"><nlm:aff id="au23"><institution>McGill University and Genome Quebec Innovation Centre</institution><addr-line>Montreal, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au24"><institution>Commissariat à l'Energie Atomique (CEA), Institut de Génomique, Centre National de Génotypage</institution><addr-line>Evry, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Evry</wicri:regionArea></affiliation></author><author><name sortKey="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name><affiliation wicri:level="1"><nlm:aff id="au14"><institution>International Hereditary Cancer Center, Pomeranian Medical University</institution><addr-line>Szczecin, Poland</addr-line></nlm:aff><country xml:lang="fr">Pologne</country><wicri:regionArea>Szczecin</wicri:regionArea></affiliation></author><author><name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M" last="Mackie">Rona M. Mackie</name><affiliation wicri:level="1"><nlm:aff id="au25"><institution>Department of Public Health</institution><addr-line>Glasgow, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Glasgow</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au26"><institution>Department of Medical Genetics</institution><addr-line>Glasgow, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Molven, Anders" sort="Molven, Anders" uniqKey="Molven A" first="Anders" last="Molven">Anders Molven</name><affiliation wicri:level="1"><nlm:aff id="au4"><institution>Department of Pathology, Haukeland University Hospital</institution><addr-line>Bergen, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Bergen</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au27"><institution>Gade Laboratory for Pathology, Department of Clinical Medicine, University of Bergen</institution><addr-line>Bergen, Norway</addr-line></nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Bergen</wicri:regionArea></affiliation></author><author><name sortKey="Novakovi, Srdjan" sort="Novakovi, Srdjan" uniqKey="Novakovi S" first="Srdjan" last="Novakovi">Srdjan Novakovi</name><affiliation wicri:level="1"><nlm:aff id="au28"><institution>Department of Molecular Diagnostics, Institute of Oncology Ljubljana</institution><addr-line>Zaloška 2, 1000, Ljubljana, Slovenia</addr-line></nlm:aff><country xml:lang="fr">Slovénie</country><wicri:regionArea>Zaloška 2, 1000, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></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="au29"><institution>Department of Oncology, Clinical Sciences, Lund University</institution><addr-line>Sweden</addr-line></nlm:aff></affiliation><affiliation><nlm:aff id="au30"><institution>Department of Cancer Epidemiology, Clinical Sciences, Lund University</institution><addr-line>Sweden</addr-line></nlm:aff></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="au31"><institution>Melanoma Unit, Dermatology Department, Hospital Clinic, Institut de Investigacó Biomèdica August Pi Suñe, Universitat de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au32"><institution>CIBER de Enfermedades Raras, Instituto de Salud Carlos III</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Puig Butille, Joan Anton" sort="Puig Butille, Joan Anton" uniqKey="Puig Butille J" first="Joan Anton" last="Puig-Butille">Joan Anton Puig-Butille</name><affiliation wicri:level="1"><nlm:aff id="au31"><institution>Melanoma Unit, Dermatology Department, Hospital Clinic, Institut de Investigacó Biomèdica August Pi Suñe, Universitat de Barcelona</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au32"><institution>CIBER de Enfermedades Raras, Instituto de Salud Carlos III</institution><addr-line>Barcelona, Spain</addr-line></nlm:aff><country xml:lang="fr">Espagne</country><wicri:regionArea>Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Van Der Stoep, Nienke" sort="Van Der Stoep, Nienke" uniqKey="Van Der Stoep N" first="Nienke" last="Van Der Stoep">Nienke Van Der Stoep</name><affiliation wicri:level="1"><nlm:aff id="au33"><institution>Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name><affiliation wicri:level="1"><nlm:aff id="au17"><institution>Department of Dermatology, Leiden University Medical Centre</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</wicri:regionArea></affiliation></author><author><name sortKey="Van Workum, Wilbert" sort="Van Workum, Wilbert" uniqKey="Van Workum W" first="Wilbert" last="Van Workum">Wilbert Van Workum</name><affiliation wicri:level="1"><nlm:aff id="au34"><institution>ServiceXS B.V.</institution><addr-line>Leiden, The Netherlands</addr-line></nlm:aff><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Leiden</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="2"><nlm:aff id="au13"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health</institution><addr-line>Bethesda, MD</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>Bethesda</wicri:cityArea></affiliation></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name><affiliation wicri:level="2"><nlm:aff id="au35"><institution>Department of Cancer Epidemiology, Moffitt Cancer Center</institution><addr-line>Tampa, FL</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Tampa</wicri:cityArea></affiliation></author><author><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D P" last="Pharoah">Paul D P. Pharoah</name><affiliation wicri:level="1"><nlm:aff id="au2"><institution>Department of Oncology, University of Cambridge</institution><addr-line>Cambridge, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au36"><institution>Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Strangeways Research Laboratory</institution><addr-line>Cambridge, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cambridge</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="au11"><institution>INSERM, UMR-946, Genetic Variation and Human Diseases Unit</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></affiliation><affiliation wicri:level="1"><nlm:aff id="au12"><institution>Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d'Hématologie</institution><addr-line>Paris, France</addr-line></nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Paris</wicri:regionArea></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 wicri:level="1"><nlm:aff id="au37"><institution>Oncogenomics, QIMR Berghofer Medical Research Institute</institution><addr-line>Brisbane, QLD, 4029, Australia</addr-line></nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Brisbane, QLD, 4029</wicri:regionArea><wicri:noRegion>4029</wicri:noRegion></affiliation></author><author><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton Bishop">Julia A. Newton Bishop</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></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"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author><author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name><affiliation wicri:level="1"><nlm:aff id="au1"><institution>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, University of Leeds</institution><addr-line>Leeds, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Leeds</wicri:regionArea></affiliation></author></analytic><series><title level="j">International Journal of Cancer. Journal International du Cancer</title><idno type="ISSN">0020-7136</idno><idno type="eISSN">1097-0215</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>At least 17 genomic regions are established as harboring melanoma susceptibility variants, in most instances with genome-wide levels of significance and replication in independent samples. Based on genome-wide single nucleotide polymorphism (SNP) data augmented by imputation to the 1,000 Genomes reference panel, we have fine mapped these regions in over 5,000 individuals with melanoma (mainly from the GenoMEL consortium) and over 7,000 ethnically matched controls. A penalized regression approach was used to discover those SNP markers that most parsimoniously explain the observed association in each genomic region. For the majority of the regions, the signal is best explained by a single SNP, which sometimes, as in the tyrosinase region, is a known functional variant. However in five regions the explanation is more complex. At the <italic>CDKN2A</italic> locus, for example, there is strong evidence that not only multiple SNPs but also multiple genes are involved. Our results illustrate the variability in the biology underlying genome-wide susceptibility loci and make steps toward accounting for some of the “missing heritability.”</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Welter, D" uniqKey="Welter D">D Welter</name></author><author><name sortKey="Macarthur, J" uniqKey="Macarthur J">J Macarthur</name></author><author><name sortKey="Morales, J" uniqKey="Morales J">J Morales</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bojesen, Se" uniqKey="Bojesen S">SE Bojesen</name></author><author><name sortKey="Pooley, Ka" uniqKey="Pooley K">KA Pooley</name></author><author><name sortKey="Johnatty, Se" uniqKey="Johnatty S">SE Johnatty</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Amos, Ci" uniqKey="Amos C">CI Amos</name></author><author><name sortKey="Wang, Le" uniqKey="Wang L">LE Wang</name></author><author><name 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sortKey="Bhatia, G" uniqKey="Bhatia G">G Bhatia</name></author><author><name sortKey="Zaitlen, N" uniqKey="Zaitlen N">N Zaitlen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Edwards, Sl" uniqKey="Edwards S">SL Edwards</name></author><author><name sortKey="Beesley, J" uniqKey="Beesley J">J Beesley</name></author><author><name sortKey="French, Jd" uniqKey="French J">JD French</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>Espagne</li><li>France</li><li>Israël</li><li>Italie</li><li>Norvège</li><li>Pays-Bas</li><li>Pologne</li><li>Royaume-Uni</li><li>Slovénie</li><li>Suède</li><li>États-Unis</li></country><region><li>Floride</li><li>Maryland</li><li>Pennsylvanie</li><li>Svealand</li><li>Østlandet</li></region><settlement><li>Oslo</li><li>Stockholm</li></settlement></list><tree><noCountry><name sortKey="Olsson, H Kan" sort="Olsson, H Kan" uniqKey="Olsson H" first="H Kan" last="Olsson">H Kan Olsson</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name></noRegion><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name><name sortKey="Bright, Chloe" sort="Bright, Chloe" uniqKey="Bright C" first="Chloe" last="Bright">Chloe Bright</name><name sortKey="Dunning, Alison M" sort="Dunning, Alison M" uniqKey="Dunning A" first="Alison M" last="Dunning">Alison M. Dunning</name><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name><name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M" last="Mackie">Rona M. Mackie</name><name sortKey="Mackie, Rona M" sort="Mackie, Rona M" uniqKey="Mackie R" first="Rona M" last="Mackie">Rona M. Mackie</name><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton Bishop">Julia A. Newton Bishop</name><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D P" last="Pharoah">Paul D P. Pharoah</name><name sortKey="Pharoah, Paul D P" sort="Pharoah, Paul D P" uniqKey="Pharoah P" first="Paul D P" last="Pharoah">Paul D P. Pharoah</name><name sortKey="Taylor, John C" sort="Taylor, John C" uniqKey="Taylor J" first="John C" last="Taylor">John C. Taylor</name></country><country name="Norvège"><noRegion><name sortKey="Akslen, Lars A" sort="Akslen, Lars A" uniqKey="Akslen L" first="Lars A" last="Akslen">Lars A. Akslen</name></noRegion><name sortKey="Akslen, Lars A" sort="Akslen, Lars A" uniqKey="Akslen L" first="Lars A" last="Akslen">Lars A. Akslen</name><name sortKey="Andresen, Per A" sort="Andresen, Per A" uniqKey="Andresen P" first="Per A" last="Andresen">Per A. Andresen</name><name sortKey="Helsing, Per" sort="Helsing, Per" uniqKey="Helsing P" first="Per" last="Helsing">Per Helsing</name><name sortKey="Molven, Anders" sort="Molven, Anders" uniqKey="Molven A" first="Anders" last="Molven">Anders Molven</name><name sortKey="Molven, Anders" sort="Molven, Anders" uniqKey="Molven A" first="Anders" last="Molven">Anders Molven</name></country><country name="France"><noRegion><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name></noRegion><name sortKey="Brossard, Myriam" sort="Brossard, Myriam" uniqKey="Brossard M" first="Myriam" last="Brossard">Myriam Brossard</name><name sortKey="Brossard, Myriam" sort="Brossard, Myriam" uniqKey="Brossard M" first="Myriam" last="Brossard">Myriam Brossard</name><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name><name sortKey="Lathrop, G Mark" sort="Lathrop, G Mark" uniqKey="Lathrop G" first="G Mark" last="Lathrop">G Mark Lathrop</name></country><country name="Israël"><noRegion><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name></noRegion><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name></country><country name="Italie"><noRegion><name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi Scarrà">Giovanna Bianchi Scarrà</name></noRegion><name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi Scarrà">Giovanna Bianchi Scarrà</name><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Brown, Kevin M" sort="Brown, Kevin M" uniqKey="Brown K" first="Kevin M" last="Brown">Kevin M. Brown</name></region><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E" last="Elder">David E. Elder</name><name sortKey="Gillanders, Elizabeth M" sort="Gillanders, Elizabeth M" uniqKey="Gillanders E" first="Elizabeth M" last="Gillanders">Elizabeth M. 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="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name></country><country name="Pologne"><noRegion><name sortKey="D Bniak, Tadeusz" sort="D Bniak, Tadeusz" uniqKey="D Bniak T" first="Tadeusz" last="D Bniak">Tadeusz D Bniak</name></noRegion><name sortKey="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name></country><country name="Pays-Bas"><noRegion><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name></noRegion><name sortKey="Van Der Stoep, Nienke" sort="Van Der Stoep, Nienke" uniqKey="Van Der Stoep N" first="Nienke" last="Van Der Stoep">Nienke Van Der Stoep</name><name sortKey="Van Doorn, Remco" sort="Van Doorn, Remco" uniqKey="Van Doorn R" first="Remco" last="Van Doorn">Remco Van Doorn</name><name sortKey="Van Workum, Wilbert" sort="Van Workum, Wilbert" uniqKey="Van Workum W" first="Wilbert" last="Van Workum">Wilbert Van Workum</name></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><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name></country><country name="Slovénie"><noRegion><name sortKey="Ho Evar, Marko" sort="Ho Evar, Marko" uniqKey="Ho Evar M" first="Marko" last="Ho Evar">Marko Ho Evar</name></noRegion><name sortKey="Novakovi, Srdjan" sort="Novakovi, Srdjan" uniqKey="Novakovi S" first="Srdjan" last="Novakovi">Srdjan Novakovi</name></country><country name="Canada"><noRegion><name sortKey="Lathrop, G Mark" sort="Lathrop, G Mark" uniqKey="Lathrop G" first="G Mark" last="Lathrop">G Mark Lathrop</name></noRegion></country><country name="Espagne"><noRegion><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name></noRegion><name sortKey="Puig Butille, Joan Anton" sort="Puig Butille, Joan Anton" uniqKey="Puig Butille J" first="Joan Anton" last="Puig-Butille">Joan Anton Puig-Butille</name><name sortKey="Puig Butille, Joan Anton" sort="Puig Butille, Joan Anton" uniqKey="Puig Butille J" first="Joan Anton" last="Puig-Butille">Joan Anton Puig-Butille</name><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name></country><country name="Australie"><noRegion><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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