AustralieFrV1, Main, Exploration, bibRecord, 002C42

Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma

Identifieur interne : 002C42 ( Main/Exploration ); précédent : 002C41; suivant : 002C43

Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma

Auteurs : Nicholas J. Taylor [États-Unis] ; Klaus J. Busam [États-Unis] ; Lynn From [Canada] ; Pamela A. Groben [États-Unis] ; Hoda Anton-Culver [États-Unis] ; Anne E. Cust [Australie] ; Colin B. Begg [États-Unis] ; Terence Dwyer [France] ; Richard P. Gallagher [Canada] ; Stephen B. Gruber [États-Unis] ; Irene Orlow [États-Unis] ; Stefano Rosso [Italie] ; Nancy E. Thomas [États-Unis] ; Roberto Zanetti [Italie] ; Timothy R. Rebbeck [États-Unis] ; Marianne Berwick [États-Unis] ; Peter A. Kanetsky [États-Unis]

Source :

PLoS ONE [ 1932-6203 ] ; 2015.

RBID : PMC:4366050

Descripteurs français

KwdFr :
- Facteurs de risque, Génotype, Humains, Mélanome (anatomopathologie), Mélanome (génétique), Pigmentation de la peau (génétique), Polymorphisme de nucléotide simple, Récepteur de la mélanocortine de type 1 (génétique), Tumeurs cutanées (anatomopathologie), Tumeurs cutanées (génétique), Études d'associations génétiques.
MESH :
- anatomopathologie : Mélanome, Tumeurs cutanées.
- génétique : Mélanome, Pigmentation de la peau, Récepteur de la mélanocortine de type 1, Tumeurs cutanées.
- Facteurs de risque, Génotype, Humains, Polymorphisme de nucléotide simple, Études d'associations génétiques.

English descriptors

KwdEn :
- Genetic Association Studies, Genotype, Humans, Melanoma (genetics), Melanoma (pathology), Polymorphism, Single Nucleotide, Receptor, Melanocortin, Type 1 (genetics), Risk Factors, Skin Neoplasms (genetics), Skin Neoplasms (pathology), Skin Pigmentation (genetics).
MESH :
- chemical , genetics : Receptor, Melanocortin, Type 1.
- genetics : Melanoma, Skin Neoplasms, Skin Pigmentation.
- pathology : Melanoma, Skin Neoplasms.
- Genetic Association Studies, Genotype, Humans, Polymorphism, Single Nucleotide, Risk Factors.

Abstract

Variation in the melanocortin-1receptor (MC1R) gene is associated with pigmentary phenotypes and risk of malignant melanoma. Few studies have reported on MC1R variation with respect to tumor characteristics, especially clinically important prognostic features. We examined associations between MC1R variants and histopathological melanoma characteristics. Study participants were enrolled from nine geographic regions in Australia, Canada, Italy and the United States and were genotyped for MC1R variants classified as high-risk [R] (D84E, R142H, R151C, R160W, and D294H, all nonsense and insertion/deletion) or low-risk [r] (all other nonsynonymous) variants. Tissue was available for 2,160 white participants of the Genes, Environment and Melanoma (GEM) Study with a first incident primary melanoma diagnosis, and underwent centralized pathologic review. No statistically significant associations were observed between MC1R variants and AJCC established prognostic tumor characteristics: Breslow thickness, presence of mitoses or presence of ulceration. However, MC1R was significantly associated with anatomic site of melanoma (p = 0.002) and a positive association was observed between carriage of more than one [R] variant and melanomas arising on the arms (OR = 2.39; 95% CI: 1.40, 4.09). We also observed statistically significant differences between sun-sensitive and sun-resistant individuals with respect to associations between MC1R genotype and AJCC prognostic tumor characteristics. Our results suggest inherited variation in MC1R may play an influential role in anatomic site presentation of melanomas and may differ with respect to skin pigmentation phenotype.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366050

DOI: 10.1371/journal.pone.0119920
PubMed: 25790105
PubMed Central: 4366050

Affiliations:

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Inherited Variation at <italic>MC1R</italic>
 and Histological Characteristics of Primary Melanoma</title>
<author><name sortKey="Taylor, Nicholas J" sort="Taylor, Nicholas J" uniqKey="Taylor N" first="Nicholas J." last="Taylor">Nicholas J. Taylor</name>
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<author><name sortKey="Gallagher, Richard P" sort="Gallagher, Richard P" uniqKey="Gallagher R" first="Richard P." last="Gallagher">Richard P. Gallagher</name>
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<author><name sortKey="Gruber, Stephen B" sort="Gruber, Stephen B" uniqKey="Gruber S" first="Stephen B." last="Gruber">Stephen B. Gruber</name>
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<author><name sortKey="Orlow, Irene" sort="Orlow, Irene" uniqKey="Orlow I" first="Irene" last="Orlow">Irene Orlow</name>
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</nlm:aff>
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<wicri:regionArea>Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
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<author><name sortKey="Rosso, Stefano" sort="Rosso, Stefano" uniqKey="Rosso S" first="Stefano" last="Rosso">Stefano Rosso</name>
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<author><name sortKey="Thomas, Nancy E" sort="Thomas, Nancy E" uniqKey="Thomas N" first="Nancy E." last="Thomas">Nancy E. Thomas</name>
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</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Dermatology, Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, North Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
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</author>
<author><name sortKey="Zanetti, Roberto" sort="Zanetti, Roberto" uniqKey="Zanetti R" first="Roberto" last="Zanetti">Roberto Zanetti</name>
<affiliation wicri:level="3"><nlm:aff id="aff011"><addr-line>Piedmont Tumor Registry, Turin, Italy</addr-line>
</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Piedmont Tumor Registry, Turin</wicri:regionArea>
<placeName><settlement type="city">Turin</settlement>
<region type="région" nuts="2">Piémont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Rebbeck, Timothy R" sort="Rebbeck, Timothy R" uniqKey="Rebbeck T" first="Timothy R." last="Rebbeck">Timothy R. Rebbeck</name>
<affiliation wicri:level="2"><nlm:aff id="aff013"><addr-line>Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="aff014"><addr-line>Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Berwick, Marianne" sort="Berwick, Marianne" uniqKey="Berwick M" first="Marianne" last="Berwick">Marianne Berwick</name>
<affiliation wicri:level="2"><nlm:aff id="aff015"><addr-line>Departments of Internal Medicine and Dermatology, University of New Mexico, Albuquerque, New Mexico, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Departments of Internal Medicine and Dermatology, University of New Mexico, Albuquerque, New Mexico</wicri:regionArea>
<placeName><region type="state">Nouveau-Mexique</region>
</placeName>
</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="aff001"><addr-line>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida, United States of America</addr-line>
</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">PLoS ONE</title>
<idno type="eISSN">1932-6203</idno>
<imprint><date when="2015">2015</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Genetic Association Studies</term>
<term>Genotype</term>
<term>Humans</term>
<term>Melanoma (genetics)</term>
<term>Melanoma (pathology)</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Receptor, Melanocortin, Type 1 (genetics)</term>
<term>Risk Factors</term>
<term>Skin Neoplasms (genetics)</term>
<term>Skin Neoplasms (pathology)</term>
<term>Skin Pigmentation (genetics)</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Facteurs de risque</term>
<term>Génotype</term>
<term>Humains</term>
<term>Mélanome (anatomopathologie)</term>
<term>Mélanome (génétique)</term>
<term>Pigmentation de la peau (génétique)</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Récepteur de la mélanocortine de type 1 (génétique)</term>
<term>Tumeurs cutanées (anatomopathologie)</term>
<term>Tumeurs cutanées (génétique)</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Receptor, Melanocortin, Type 1</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Mélanome</term>
<term>Tumeurs cutanées</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Melanoma</term>
<term>Skin Neoplasms</term>
<term>Skin Pigmentation</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Mélanome</term>
<term>Pigmentation de la peau</term>
<term>Récepteur de la mélanocortine de type 1</term>
<term>Tumeurs cutanées</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Melanoma</term>
<term>Skin Neoplasms</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Genetic Association Studies</term>
<term>Genotype</term>
<term>Humans</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Risk Factors</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Facteurs de risque</term>
<term>Génotype</term>
<term>Humains</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Études d'associations génétiques</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Variation in the melanocortin-1receptor (<italic>MC1R</italic>
) gene is associated with pigmentary phenotypes and risk of malignant melanoma. Few studies have reported on <italic>MC1R</italic>
 variation with respect to tumor characteristics, especially clinically important prognostic features. We examined associations between <italic>MC1R</italic>
 variants and histopathological melanoma characteristics. Study participants were enrolled from nine geographic regions in Australia, Canada, Italy and the United States and were genotyped for <italic>MC1R</italic>
 variants classified as high-risk [R] (D84E, R142H, R151C, R160W, and D294H, all nonsense and insertion/deletion) or low-risk [r] (all other nonsynonymous) variants. Tissue was available for 2,160 white participants of the Genes, Environment and Melanoma (GEM) Study with a first incident primary melanoma diagnosis, and underwent centralized pathologic review. No statistically significant associations were observed between <italic>MC1R</italic>
 variants and AJCC established prognostic tumor characteristics: Breslow thickness, presence of mitoses or presence of ulceration. However, <italic>MC1R</italic>
 was significantly associated with anatomic site of melanoma (p = 0.002) and a positive association was observed between carriage of more than one [R] variant and melanomas arising on the arms (OR = 2.39; 95% CI: 1.40, 4.09). We also observed statistically significant differences between sun-sensitive and sun-resistant individuals with respect to associations between <italic>MC1R</italic>
 genotype and AJCC prognostic tumor characteristics. Our results suggest inherited variation in <italic>MC1R</italic>
 may play an influential role in anatomic site presentation of melanomas and may differ with respect to skin pigmentation phenotype.</p>
</div>
</front>
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</author>
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   |texte=   Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma
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Serveur d'exploration sur les relations entre la France et l'Australie

Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma

Inherited Variation at MC1R and Histological Characteristics of Primary Melanoma

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	Serveur d'exploration sur les relations entre la France et l'Australie
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