MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project
Identifieur interne : 003278 ( Main/Merge ); précédent : 003277; suivant : 003279MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project
Auteurs : E. Tagliabue [Italie] ; M C Fargnoli [Italie] ; S. Gandini [Italie] ; P. Maisonneuve [Italie] ; F. Liu [Pays-Bas] ; M. Kayser [Pays-Bas] ; T. Nijsten [Pays-Bas] ; J. Han [États-Unis] ; R. Kumar [Allemagne] ; N A Gruis [Pays-Bas] ; L. Ferrucci [États-Unis] ; W. Branicki [Pologne] ; T. Dwyer [Australie] ; L. Blizzard [Australie] ; P. Helsing [Norvège] ; P. Autier [France] ; J C García-Borr N [Espagne] ; P A Kanetsky [États-Unis] ; M T Landi [États-Unis] ; J. Little [Canada] ; J. Newton-Bishop [Royaume-Uni] ; F. Sera [Royaume-Uni] ; S. Raimondi [Italie]Source :
- British Journal of Cancer [ 0007-0920 ] ; 2015.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Receptor, Melanocortin, Type 1.
- etiology : Skin Neoplasms.
- genetics : Carcinoma, Basal Cell, Carcinoma, Squamous Cell, Skin Neoplasms.
- Genetic Predisposition to Disease, Hair Color, Humans, Odds Ratio, Phenotype, Risk.
Abstract
The melanocortin-1-receptor (
Data on 3527 NMSC cases and 9391 controls were gathered through the M-SKIP Project, an international pooled-analysis on
Subjects carrying at least one
Our pooled-analysis highlighted a role of
Url:
DOI: 10.1038/bjc.2015.231
PubMed: 26103569
PubMed Central: 4506395
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PMC:4506395Le document en format XML
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gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project</title>
<author><name sortKey="Tagliabue, E" sort="Tagliabue, E" uniqKey="Tagliabue E" first="E" last="Tagliabue">E. Tagliabue</name>
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<author><name sortKey="Fargnoli, M C" sort="Fargnoli, M C" uniqKey="Fargnoli M" first="M C" last="Fargnoli">M C Fargnoli</name>
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<country xml:lang="fr">Italie</country>
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<author><name sortKey="Liu, F" sort="Liu, F" uniqKey="Liu F" first="F" last="Liu">F. Liu</name>
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, 3000 DR Rotterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Kayser, M" sort="Kayser, M" uniqKey="Kayser M" first="M" last="Kayser">M. Kayser</name>
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, 3000 DR Rotterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Nijsten, T" sort="Nijsten, T" uniqKey="Nijsten T" first="T" last="Nijsten">T. Nijsten</name>
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<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Han, J" sort="Han, J" uniqKey="Han J" first="J" last="Han">J. Han</name>
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, Boston, MA 02115,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Epidemiology, Harvard School of Public Health</institution>
, Boston, MA 02115,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Kumar, R" sort="Kumar, R" uniqKey="Kumar R" first="R" last="Kumar">R. Kumar</name>
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</nlm:aff>
<country xml:lang="fr">Allemagne</country>
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</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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, New Haven, CT 06520-8034,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</nlm:aff>
<country xml:lang="fr">Pologne</country>
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<author><name sortKey="Autier, P" sort="Autier, P" uniqKey="Autier P" first="P" last="Autier">P. Autier</name>
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</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Garcia Borr N, J C" sort="Garcia Borr N, J C" uniqKey="Garcia Borr N J" first="J C" last="García-Borr N">J C García-Borr N</name>
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, 30100 Murcia,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Kanetsky, P A" sort="Kanetsky, P A" uniqKey="Kanetsky P" first="P A" last="Kanetsky">P A Kanetsky</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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</nlm:aff>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>MC1R</italic>
gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project</title>
<author><name sortKey="Tagliabue, E" sort="Tagliabue, E" uniqKey="Tagliabue E" first="E" last="Tagliabue">E. Tagliabue</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Division of Epidemiology and Biostatistics, European Institute of Oncology</institution>
, Via Ripamonti 435, Milan 20141,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Fargnoli, M C" sort="Fargnoli, M C" uniqKey="Fargnoli M" first="M C" last="Fargnoli">M C Fargnoli</name>
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, 47100 L'Aquila,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Gandini, S" sort="Gandini, S" uniqKey="Gandini S" first="S" last="Gandini">S. Gandini</name>
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, Via Ripamonti 435, Milan 20141,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Maisonneuve, P" sort="Maisonneuve, P" uniqKey="Maisonneuve P" first="P" last="Maisonneuve">P. Maisonneuve</name>
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, Via Ripamonti 435, Milan 20141,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Liu, F" sort="Liu, F" uniqKey="Liu F" first="F" last="Liu">F. Liu</name>
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, 3000 DR Rotterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Kayser, M" sort="Kayser, M" uniqKey="Kayser M" first="M" last="Kayser">M. Kayser</name>
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, 3000 DR Rotterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Nijsten, T" sort="Nijsten, T" uniqKey="Nijsten T" first="T" last="Nijsten">T. Nijsten</name>
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, 3000 DR Rotterdam,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Han, J" sort="Han, J" uniqKey="Han J" first="J" last="Han">J. Han</name>
<affiliation wicri:level="1"><nlm:aff id="aff5"><institution>Department of Dermatology, Brigham and Women's Hospital and Harvard Medical School</institution>
, Boston, MA 02115,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff6"><institution>Channing Laboratory, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School</institution>
, Boston, MA 02115,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="aff7"><institution>Department of Epidemiology, Harvard School of Public Health</institution>
, Boston, MA 02115,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Kumar, R" sort="Kumar, R" uniqKey="Kumar R" first="R" last="Kumar">R. Kumar</name>
<affiliation wicri:level="1"><nlm:aff id="aff8"><institution>Division of Molecular Genetic Epidemiology, German Cancer Research Center</institution>
, D-69120 Heidelberg,<country>Germany</country>
</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Gruis, N A" sort="Gruis, N A" uniqKey="Gruis N" first="N A" last="Gruis">N A Gruis</name>
<affiliation wicri:level="1"><nlm:aff id="aff9"><institution>Department of Dermatology, Leiden University Medical Center</institution>
, 2300 RC Leiden,<country>The Netherlands</country>
</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Ferrucci, L" sort="Ferrucci, L" uniqKey="Ferrucci L" first="L" last="Ferrucci">L. Ferrucci</name>
<affiliation wicri:level="1"><nlm:aff id="aff10"><institution>Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale Cancer Center</institution>
, New Haven, CT 06520-8034,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
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<author><name sortKey="Branicki, W" sort="Branicki, W" uniqKey="Branicki W" first="W" last="Branicki">W. Branicki</name>
<affiliation wicri:level="1"><nlm:aff id="aff11"><institution>Institute of Forensic Research</institution>
, 31-033 Krakow,<country>Poland</country>
</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Dwyer, T" sort="Dwyer, T" uniqKey="Dwyer T" first="T" last="Dwyer">T. Dwyer</name>
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, Victoria 3052,<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
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<author><name sortKey="Blizzard, L" sort="Blizzard, L" uniqKey="Blizzard L" first="L" last="Blizzard">L. Blizzard</name>
<affiliation wicri:level="1"><nlm:aff id="aff13"><institution>Menzies Research Institute Tasmania, University of Tasmania</institution>
, Hobart, 7001<country>Australia</country>
</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Helsing, P" sort="Helsing, P" uniqKey="Helsing P" first="P" last="Helsing">P. Helsing</name>
<affiliation wicri:level="1"><nlm:aff id="aff14"><institution>Department of Pathology, Oslo University Hospital</institution>
, N-0027 Oslo,<country>Norway</country>
</nlm:aff>
<country xml:lang="fr">Norvège</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Autier, P" sort="Autier, P" uniqKey="Autier P" first="P" last="Autier">P. Autier</name>
<affiliation wicri:level="1"><nlm:aff id="aff15"><institution>International Prevention Research Institute</institution>
, Lyon 69006,<country>France</country>
</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Garcia Borr N, J C" sort="Garcia Borr N, J C" uniqKey="Garcia Borr N J" first="J C" last="García-Borr N">J C García-Borr N</name>
<affiliation wicri:level="1"><nlm:aff id="aff16"><institution>Department of Biochemistry, Molecular Biology and Immunology, University of Murcia</institution>
, 30100 Murcia,<country>Spain</country>
</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Kanetsky, P A" sort="Kanetsky, P A" uniqKey="Kanetsky P" first="P A" last="Kanetsky">P A Kanetsky</name>
<affiliation wicri:level="1"><nlm:aff id="aff17"><institution>Department of Cancer Epidemiology, Moffitt Cancer Center</institution>
, Tampa, FL 33612,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Landi, M T" sort="Landi, M T" uniqKey="Landi M" first="M T" last="Landi">M T Landi</name>
<affiliation wicri:level="1"><nlm:aff id="aff18"><institution>Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH</institution>
, Bethesda, MD 20892-7236,<country>USA</country>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Little, J" sort="Little, J" uniqKey="Little J" first="J" last="Little">J. Little</name>
<affiliation wicri:level="1"><nlm:aff id="aff19"><institution>School of Epidemiology, Public Health and Preventive Medicine, University of Ottawa</institution>
, Ottawa,<country>Canada</country>
ON K1N 6N5</nlm:aff>
<country xml:lang="fr">Canada</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Newton Bishop, J" sort="Newton Bishop, J" uniqKey="Newton Bishop J" first="J" last="Newton-Bishop">J. Newton-Bishop</name>
<affiliation wicri:level="1"><nlm:aff id="aff20"><institution>Section of Epidemiology and Biostatistics, Institute of Cancer and Pathology, University of Leeds</institution>
, Leeds LS9 7TF,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sera, F" sort="Sera, F" uniqKey="Sera F" first="F" last="Sera">F. Sera</name>
<affiliation wicri:level="1"><nlm:aff id="aff21"><institution>UCL Institute of Child Health</institution>
, London WC1N 1EH,<country>UK</country>
</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Raimondi, S" sort="Raimondi, S" uniqKey="Raimondi S" first="S" last="Raimondi">S. Raimondi</name>
<affiliation wicri:level="1"><nlm:aff id="aff1"><institution>Division of Epidemiology and Biostatistics, European Institute of Oncology</institution>
, Via Ripamonti 435, Milan 20141,<country>Italy</country>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea># see nlm:aff country strict</wicri:regionArea>
</affiliation>
</author>
</analytic>
<series><title level="j">British Journal of Cancer</title>
<idno type="ISSN">0007-0920</idno>
<idno type="eISSN">1532-1827</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Carcinoma, Basal Cell (genetics)</term>
<term>Carcinoma, Squamous Cell (genetics)</term>
<term>Genetic Predisposition to Disease</term>
<term>Hair Color</term>
<term>Humans</term>
<term>Odds Ratio</term>
<term>Phenotype</term>
<term>Receptor, Melanocortin, Type 1 (genetics)</term>
<term>Risk</term>
<term>Skin Neoplasms (etiology)</term>
<term>Skin Neoplasms (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Carcinome basocellulaire (génétique)</term>
<term>Carcinome épidermoïde (génétique)</term>
<term>Couleur des cheveux</term>
<term>Humains</term>
<term>Odds ratio</term>
<term>Phénotype</term>
<term>Prédisposition génétique à une maladie</term>
<term>Risque</term>
<term>Récepteur de la mélanocortine de type 1 (génétique)</term>
<term>Tumeurs cutanées (génétique)</term>
<term>Tumeurs cutanées (étiologie)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor, Melanocortin, Type 1</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Skin Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Carcinoma, Basal Cell</term>
<term>Carcinoma, Squamous Cell</term>
<term>Skin Neoplasms</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Carcinome basocellulaire</term>
<term>Carcinome épidermoïde</term>
<term>Récepteur de la mélanocortine de type 1</term>
<term>Tumeurs cutanées</term>
</keywords>
<keywords scheme="MESH" qualifier="étiologie" xml:lang="fr"><term>Tumeurs cutanées</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Hair Color</term>
<term>Humans</term>
<term>Odds Ratio</term>
<term>Phenotype</term>
<term>Risk</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Couleur des cheveux</term>
<term>Humains</term>
<term>Odds ratio</term>
<term>Phénotype</term>
<term>Prédisposition génétique à une maladie</term>
<term>Risque</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background:</title>
<p>The melanocortin-1-receptor (<italic>MC1R</italic>
) gene regulates human pigmentation and is highly polymorphic in populations of European origins. The aims of this study were to evaluate the association between <italic>MC1R</italic>
variants and the risk of non-melanoma skin cancer (NMSC), and to investigate whether risk estimates differed by phenotypic characteristics.</p>
</sec>
<sec><title>Methods:</title>
<p>Data on 3527 NMSC cases and 9391 controls were gathered through the M-SKIP Project, an international pooled-analysis on <italic>MC1R</italic>
, skin cancer and phenotypic characteristics. We calculated summary odds ratios (SOR) with random-effect models, and performed stratified analyses.</p>
</sec>
<sec><title>Results:</title>
<p>Subjects carrying at least one <italic>MC1R</italic>
variant had an increased risk of NMSC overall, basal cell carcinoma (BCC) and squamous cell carcinoma (SCC): SOR (95%CI) were 1.48 (1.24–1.76), 1.39 (1.15–1.69) and 1.61 (1.35–1.91), respectively. All of the investigated variants showed positive associations with NMSC, with consistent significant results obtained for V60L, D84E, V92M, R151C, R160W, R163Q and D294H: SOR (95%CI) ranged from 1.42 (1.19–1.70) for V60L to 2.66 (1.06–6.65) for D84E variant. In stratified analysis, there was no consistent pattern of association between <italic>MC1R</italic>
and NMSC by skin type, but we consistently observed higher SORs for subjects without red hair.</p>
</sec>
<sec><title>Conclusions:</title>
<p>Our pooled-analysis highlighted a role of <italic>MC1R</italic>
variants in NMSC development and suggested an effect modification by red hair colour phenotype.</p>
</sec>
</div>
</front>
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