MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors
Identifieur interne : 003D69 ( Main/Exploration ); précédent : 003D68; suivant : 003D70MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors
Auteurs : Marianne Berwick [États-Unis] ; Jamie Macarthur [États-Unis] ; Irene Orlow [États-Unis] ; Peter Kanetsky [États-Unis] ; Colin B. Begg [États-Unis] ; Li Luo [États-Unis] ; Anne Reiner [États-Unis] ; Ajay Sharma [États-Unis] ; Bruce K. Armstrong [Australie] ; Anne Kricker [Australie] ; Anne E. Cust [Australie] ; Loraine D. Marrett [Canada] ; Stephen B. Gruber [États-Unis] ; Hoda Anton-Culver [États-Unis] ; Roberto Zanetti [Italie] ; Stefano Rosso [Italie] ; Richard P. Gallagher [Canada] ; Terence Dwyer [France] ; Alison Venn [Australie] ; Klaus Busam [États-Unis] ; Lynn From [Canada] ; Kirsten White [États-Unis] ; Nancy E. Thomas [États-Unis]Source :
- Pigment Cell & Melanoma Research [ 1755-1471 ] ; 2014-05.
Abstract
A rare germline variant in the microphthalmia‐associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R ‘red hair variants’ and MITF E318K. Moreover, risk of melanoma among carriers with ‘low risk’ phenotypes was as great or greater than among those with ‘at risk’ phenotypes with few exceptions.
Url:
DOI: 10.1111/pcmr.12215
Affiliations:
- Australie, Canada, France, Italie, États-Unis
- Auvergne-Rhône-Alpes, Californie, Nouvelle-Galles du Sud, Pennsylvanie, Piémont, Rhône-Alpes, État de New York
- Los Angeles, Lyon, Philadelphie, Sydney, Turin
- Université de Sydney
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Begg</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Memorial Sloan‐Kettering Cancer Center, NY, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Luo, Li" sort="Luo, Li" uniqKey="Luo L" first="Li" last="Luo">Li Luo</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Internal Medicine and Dermatology, University of New Mexico, NM, Albuquerque</wicri:regionArea><wicri:noRegion>Albuquerque</wicri:noRegion></affiliation></author><author><name sortKey="Reiner, Anne" sort="Reiner, Anne" uniqKey="Reiner A" first="Anne" last="Reiner">Anne Reiner</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Memorial Sloan‐Kettering Cancer Center, NY, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Sharma, Ajay" sort="Sharma, Ajay" uniqKey="Sharma A" first="Ajay" last="Sharma">Ajay Sharma</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Memorial Sloan‐Kettering Cancer Center, NY, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Armstrong, Bruce K" sort="Armstrong, Bruce K" uniqKey="Armstrong B" first="Bruce K." last="Armstrong">Bruce K. Armstrong</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>School of Public Health, University of Sydney, NSW, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Kricker, Anne" sort="Kricker, Anne" uniqKey="Kricker A" first="Anne" last="Kricker">Anne Kricker</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>School of Public Health, University of Sydney, NSW, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E." last="Cust">Anne E. Cust</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>School of Public Health, University of Sydney, NSW, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region><settlement type="city">Sydney</settlement></placeName><orgName type="university">Université de Sydney</orgName></affiliation></author><author><name sortKey="Marrett, Loraine D" sort="Marrett, Loraine D" uniqKey="Marrett L" first="Loraine D." last="Marrett">Loraine D. Marrett</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Cancercare Ontario, ON, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Gruber, Stephen B" sort="Gruber, Stephen B" uniqKey="Gruber S" first="Stephen B." last="Gruber">Stephen B. Gruber</name><affiliation wicri:level="3"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Keck School of Medicine, University of Southern California Norris Comprehensive Cancer Center, University of Southern California, CA, Los Angeles</wicri:regionArea><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Anton Ulver, Hoda" sort="Anton Ulver, Hoda" uniqKey="Anton Ulver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology, University of California, CA, Irvine</wicri:regionArea><wicri:noRegion>Irvine</wicri:noRegion></affiliation></author><author><name sortKey="Zanetti, Roberto" sort="Zanetti, Roberto" uniqKey="Zanetti R" first="Roberto" last="Zanetti">Roberto Zanetti</name><affiliation wicri:level="3"><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="Rosso, Stefano" sort="Rosso, Stefano" uniqKey="Rosso S" first="Stefano" last="Rosso">Stefano Rosso</name><affiliation wicri:level="3"><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="Gallagher, Richard P" sort="Gallagher, Richard P" uniqKey="Gallagher R" first="Richard P." last="Gallagher">Richard P. Gallagher</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>British Columbia Cancer Research Center, BC, Vancouver</wicri:regionArea><wicri:noRegion>Vancouver</wicri:noRegion></affiliation></author><author><name sortKey="Dwyer, Terence" sort="Dwyer, Terence" uniqKey="Dwyer T" first="Terence" last="Dwyer">Terence Dwyer</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>International Agency for Cancer Research, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Menzies Centre for Population Health, University of Tasmania, Tas, Hobart</wicri:regionArea><wicri:noRegion>Hobart</wicri:noRegion></affiliation></author><author><name sortKey="Busam, Klaus" sort="Busam, Klaus" uniqKey="Busam K" first="Klaus" last="Busam">Klaus Busam</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Memorial Sloan‐Kettering Cancer Center, NY, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="From, Lynn" sort="From, Lynn" uniqKey="From L" first="Lynn" last="From">Lynn From</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Womens College Hospital, ON, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="White, Kirsten" sort="White, Kirsten" uniqKey="White K" first="Kirsten" last="White">Kirsten White</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Internal Medicine and Dermatology, University of New Mexico, NM, Albuquerque</wicri:regionArea><wicri:noRegion>Albuquerque</wicri:noRegion></affiliation></author><author><name sortKey="Thomas, Nancy E" sort="Thomas, Nancy E" uniqKey="Thomas N" first="Nancy E." last="Thomas">Nancy E. Thomas</name><affiliation wicri:level="1"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Dermatology, Epidemiology and Lineberger Comprehensive Cancer Center, University of North Carolina, NC, Chapel Hill</wicri:regionArea><wicri:noRegion>Chapel Hill</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Pigment Cell & Melanoma Research</title><title level="j" type="alt">PIGMENT CELL AND MELANOMA RESEARCH</title><idno type="ISSN">1755-1471</idno><idno type="eISSN">1755-148X</idno><imprint><biblScope unit="vol">27</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="485">485</biblScope><biblScope unit="page" to="488">488</biblScope><biblScope unit="page-count">4</biblScope><date type="published" when="2014-05">2014-05</date></imprint><idno type="ISSN">1755-1471</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1755-1471</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">A rare germline variant in the microphthalmia‐associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction, <0.01). There was no evidence of interaction between MC1R ‘red hair variants’ and MITF E318K. Moreover, risk of melanoma among carriers with ‘low risk’ phenotypes was as great or greater than among those with ‘at risk’ phenotypes with few exceptions.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Italie</li><li>États-Unis</li></country><region><li>Auvergne-Rhône-Alpes</li><li>Californie</li><li>Nouvelle-Galles du Sud</li><li>Pennsylvanie</li><li>Piémont</li><li>Rhône-Alpes</li><li>État de New York</li></region><settlement><li>Los Angeles</li><li>Lyon</li><li>Philadelphie</li><li>Sydney</li><li>Turin</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="États-Unis"><noRegion><name sortKey="Berwick, Marianne" sort="Berwick, Marianne" uniqKey="Berwick M" first="Marianne" last="Berwick">Marianne Berwick</name></noRegion><name sortKey="Anton Ulver, Hoda" sort="Anton Ulver, Hoda" uniqKey="Anton Ulver H" first="Hoda" last="Anton-Culver">Hoda Anton-Culver</name><name sortKey="Begg, Colin B" sort="Begg, Colin B" uniqKey="Begg C" first="Colin B." last="Begg">Colin B. Begg</name><name sortKey="Berwick, Marianne" sort="Berwick, Marianne" uniqKey="Berwick M" first="Marianne" last="Berwick">Marianne Berwick</name><name sortKey="Busam, Klaus" sort="Busam, Klaus" uniqKey="Busam K" first="Klaus" last="Busam">Klaus Busam</name><name sortKey="Gruber, Stephen B" sort="Gruber, Stephen B" uniqKey="Gruber S" first="Stephen B." last="Gruber">Stephen B. Gruber</name><name sortKey="Kanetsky, Peter" sort="Kanetsky, Peter" uniqKey="Kanetsky P" first="Peter" last="Kanetsky">Peter Kanetsky</name><name sortKey="Luo, Li" sort="Luo, Li" uniqKey="Luo L" first="Li" last="Luo">Li Luo</name><name sortKey="Macarthur, Jamie" sort="Macarthur, Jamie" uniqKey="Macarthur J" first="Jamie" last="Macarthur">Jamie Macarthur</name><name sortKey="Orlow, Irene" sort="Orlow, Irene" uniqKey="Orlow I" first="Irene" last="Orlow">Irene Orlow</name><name sortKey="Reiner, Anne" sort="Reiner, Anne" uniqKey="Reiner A" first="Anne" last="Reiner">Anne Reiner</name><name sortKey="Sharma, Ajay" sort="Sharma, Ajay" uniqKey="Sharma A" first="Ajay" last="Sharma">Ajay Sharma</name><name sortKey="Thomas, Nancy E" sort="Thomas, Nancy E" uniqKey="Thomas N" first="Nancy E." last="Thomas">Nancy E. Thomas</name><name sortKey="White, Kirsten" sort="White, Kirsten" uniqKey="White K" first="Kirsten" last="White">Kirsten White</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Armstrong, Bruce K" sort="Armstrong, Bruce K" uniqKey="Armstrong B" first="Bruce K." last="Armstrong">Bruce K. Armstrong</name></region><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E." last="Cust">Anne E. Cust</name><name sortKey="Kricker, Anne" sort="Kricker, Anne" uniqKey="Kricker A" first="Anne" last="Kricker">Anne Kricker</name><name sortKey="Venn, Alison" sort="Venn, Alison" uniqKey="Venn A" first="Alison" last="Venn">Alison Venn</name></country><country name="Canada"><noRegion><name sortKey="Marrett, Loraine D" sort="Marrett, Loraine D" uniqKey="Marrett L" first="Loraine D." last="Marrett">Loraine D. Marrett</name></noRegion><name sortKey="From, Lynn" sort="From, Lynn" uniqKey="From L" first="Lynn" last="From">Lynn From</name><name sortKey="Gallagher, Richard P" sort="Gallagher, Richard P" uniqKey="Gallagher R" first="Richard P." last="Gallagher">Richard P. Gallagher</name></country><country name="Italie"><region name="Piémont"><name sortKey="Zanetti, Roberto" sort="Zanetti, Roberto" uniqKey="Zanetti R" first="Roberto" last="Zanetti">Roberto Zanetti</name></region><name sortKey="Rosso, Stefano" sort="Rosso, Stefano" uniqKey="Rosso S" first="Stefano" last="Rosso">Stefano Rosso</name></country><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Dwyer, Terence" sort="Dwyer, Terence" uniqKey="Dwyer T" first="Terence" last="Dwyer">Terence Dwyer</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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