Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
Identifieur interne : 000B47 ( Main/Exploration ); précédent : 000B46; suivant : 000B48Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.
Auteurs : Nicholas J. Taylor [États-Unis] ; Nandita Mitra [États-Unis] ; Alisa M. Goldstein [États-Unis] ; Margaret A. Tucker [États-Unis] ; Marie-Françoise Avril [France] ; Esther Azizi [Israël] ; Wilma Bergman [Pays-Bas] ; D Timothy Bishop [Royaume-Uni] ; Brigitte Bressac-De Paillerets [France] ; William Bruno [Italie] ; Donato Calista [Italie] ; Lisa A. Cannon-Albright [États-Unis] ; Francisco Cuellar [Espagne] ; Anne E. Cust [Australie] ; Florence Demenais [France] ; David E. Elder [États-Unis] ; Anne-Marie Gerdes [Danemark] ; Paola Ghiorzo [Royaume-Uni] ; Thais C. Grazziotin [Brésil] ; Johan Hansson [Suède] ; Mark Harland [Royaume-Uni] ; Nicholas K. Hayward [Australie] ; Marko Hocevar [Slovénie] ; Veronica Höiom [Suède] ; Christian Ingvar [Suède] ; Maria Teresa Landi [États-Unis] ; Gilles Landman [Brésil] ; Alejandra Larre-Borges [Uruguay] ; Sancy A. Leachman [États-Unis] ; Graham J. Mann [Australie] ; Eduardo Nagore [Espagne] ; H Kan Olsson [Suède] ; Jane M. Palmer [Australie] ; Barbara Peri [Slovénie] ; Dace Pjanova [Lettonie] ; Antonia Pritchard [Australie] ; Susana Puig [Espagne] ; Nienke Van Der Stoep [Pays-Bas] ; Karin A W. Wadt [Danemark] ; Linda Whitaker [Royaume-Uni] ; Xiaohong R. Yang [États-Unis] ; Julia A. Newton Bishop [Royaume-Uni] ; Nelleke A. Gruis [Pays-Bas] ; Peter A. Kanetsky [États-Unis]Source :
- The Journal of investigative dermatology [ 1523-1747 ] ; 2017.
Abstract
Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.
DOI: 10.1016/j.jid.2017.07.829
PubMed: 28830827
Affiliations:
- Australie, Brésil, Danemark, Espagne, France, Israël, Italie, Lettonie, Pays-Bas, Royaume-Uni, Slovénie, Suède, Uruguay, États-Unis
- Catalogne, Floride, Hollande-Méridionale, Hovedstaden, Maryland, Nouvelle-Galles du Sud, Oregon, Pennsylvanie, Rio Grande do Sul, Svealand, Texas, Utah, État de São Paulo, Île-de-France
- Barcelone, Copenhague, Leyde, Paris, Portland, Stockholm, Sydney, São Paulo
- Université Paris-Descartes, Université de Sydney, Université des sciences et de la médecine de l'Oregon
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Taylor</name><affiliation wicri:level="2"><nlm:affiliation>Department of Epidemiology and Biostatistics, Texas A&M Health Science Center, College Station, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Texas A&M Health Science Center, College Station, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Mitra, Nandita" sort="Mitra, Nandita" uniqKey="Mitra N" first="Nandita" last="Mitra">Nandita Mitra</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M" last="Goldstein">Alisa M. 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Cannon-Albright</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Genetic Epidemiology and Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Genetic Epidemiology and Biomedical Informatics, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Cuellar, Francisco" sort="Cuellar, Francisco" uniqKey="Cuellar F" first="Francisco" last="Cuellar">Francisco Cuellar</name><affiliation wicri:level="3"><nlm:affiliation>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E" last="Cust">Anne E. 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Elder</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></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:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Grazziotin, Thais C" sort="Grazziotin, Thais C" uniqKey="Grazziotin T" first="Thais C" last="Grazziotin">Thais C. Grazziotin</name><affiliation wicri:level="2"><nlm:affiliation>Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul</wicri:regionArea><placeName><region type="state">Rio Grande do Sul</region></placeName></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:affiliation>Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Oncology-Pathology, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></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:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></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:affiliation>QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>QIMR Berghofer Medical Research Institute, Herston, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Hocevar, Marko" sort="Hocevar, Marko" uniqKey="Hocevar M" first="Marko" last="Hocevar">Marko Hocevar</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Institute of Oncology Ljubljana, Zaloska, 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:affiliation>Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Oncology-Pathology, Karolinska Institutet, 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:affiliation>Departments of Clinical Sciences and Surgery, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Departments of Clinical Sciences and Surgery, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></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:affiliation>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Landman, Gilles" sort="Landman, Gilles" uniqKey="Landman G" first="Gilles" last="Landman">Gilles Landman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Larre Borges, Alejandra" sort="Larre Borges, Alejandra" uniqKey="Larre Borges A" first="Alejandra" last="Larre-Borges">Alejandra Larre-Borges</name><affiliation wicri:level="1"><nlm:affiliation>Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.</nlm:affiliation><country xml:lang="fr">Uruguay</country><wicri:regionArea>Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo</wicri:regionArea><wicri:noRegion>Montevideo</wicri:noRegion></affiliation></author><author><name sortKey="Leachman, Sancy A" sort="Leachman, Sancy A" uniqKey="Leachman S" first="Sancy A" last="Leachman">Sancy A. Leachman</name><affiliation wicri:level="4"><nlm:affiliation>Department of Dermatology, Oregon Health & Science University, Portland, Oregon, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Dermatology, Oregon Health & Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region><settlement type="city">Portland</settlement></placeName><orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName></affiliation></author><author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><affiliation wicri:level="1"><nlm:affiliation>Melanoma Institute Australia, Westmead, New South Wales, Australia; Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Melanoma Institute Australia, Westmead, New South Wales, Australia; Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Nagore, Eduardo" sort="Nagore, Eduardo" uniqKey="Nagore E" first="Eduardo" last="Nagore">Eduardo Nagore</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Instituto Valenciano de Oncologia, Valencia</wicri:regionArea><wicri:noRegion>Valencia</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 wicri:level="1"><nlm:affiliation>Departments of Clinical Sciences and Surgery, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Departments of Clinical Sciences and Surgery, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Palmer, Jane M" sort="Palmer, Jane M" uniqKey="Palmer J" first="Jane M" last="Palmer">Jane M. Palmer</name><affiliation wicri:level="1"><nlm:affiliation>QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>QIMR Berghofer Medical Research Institute, Herston, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Peri, Barbara" sort="Peri, Barbara" uniqKey="Peri B" first="Barbara" last="Peri">Barbara Peri</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Institute of Oncology Ljubljana, Zaloska, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Pjanova, Dace" sort="Pjanova, Dace" uniqKey="Pjanova D" first="Dace" last="Pjanova">Dace Pjanova</name><affiliation wicri:level="1"><nlm:affiliation>Latvian Biomedical Research and Study Centre, Riga, Latvia.</nlm:affiliation><country xml:lang="fr">Lettonie</country><wicri:regionArea>Latvian Biomedical Research and Study Centre, Riga</wicri:regionArea><wicri:noRegion>Riga</wicri:noRegion></affiliation></author><author><name sortKey="Pritchard, Antonia" sort="Pritchard, Antonia" uniqKey="Pritchard A" first="Antonia" last="Pritchard">Antonia Pritchard</name><affiliation wicri:level="1"><nlm:affiliation>QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>QIMR Berghofer Medical Research Institute, Herston, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name><affiliation wicri:level="3"><nlm:affiliation>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></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="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Wadt, Karin A W" sort="Wadt, Karin A W" uniqKey="Wadt K" first="Karin A W" last="Wadt">Karin A W. Wadt</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Whitaker, Linda" sort="Whitaker, Linda" uniqKey="Whitaker L" first="Linda" last="Whitaker">Linda Whitaker</name><affiliation wicri:level="1"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Yang, Xiaohong R" sort="Yang, Xiaohong R" uniqKey="Yang X" first="Xiaohong R" last="Yang">Xiaohong R. Yang</name><affiliation wicri:level="2"><nlm:affiliation>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></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="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</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:affiliation>Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA. Electronic address: peter.kanetsky@moffitt.org.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28830827</idno><idno type="pmid">28830827</idno><idno type="doi">10.1016/j.jid.2017.07.829</idno><idno type="wicri:Area/PubMed/Corpus">000780</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000780</idno><idno type="wicri:Area/PubMed/Curation">000777</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000777</idno><idno type="wicri:Area/PubMed/Checkpoint">000777</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000777</idno><idno type="wicri:Area/Ncbi/Merge">004D21</idno><idno type="wicri:Area/Ncbi/Curation">004D21</idno><idno type="wicri:Area/Ncbi/Checkpoint">004D21</idno><idno type="wicri:Area/Main/Merge">000B42</idno><idno type="wicri:Area/Main/Curation">000B47</idno><idno type="wicri:Area/Main/Exploration">000B47</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families.</title><author><name sortKey="Taylor, Nicholas J" sort="Taylor, Nicholas J" uniqKey="Taylor N" first="Nicholas J" last="Taylor">Nicholas J. Taylor</name><affiliation wicri:level="2"><nlm:affiliation>Department of Epidemiology and Biostatistics, Texas A&M Health Science Center, College Station, Texas, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Epidemiology and Biostatistics, Texas A&M Health Science Center, College Station, Texas</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Mitra, Nandita" sort="Mitra, Nandita" uniqKey="Mitra N" first="Nandita" last="Mitra">Nandita Mitra</name><affiliation wicri:level="2"><nlm:affiliation>Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></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:affiliation>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A" last="Tucker">Margaret A. Tucker</name><affiliation wicri:level="2"><nlm:affiliation>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</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="4"><nlm:affiliation>Assistance Publique-Hôpitaux de Paris, Hôpital Cochin et Université Paris Descartes, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique-Hôpitaux de Paris, Hôpital Cochin et Université Paris Descartes, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></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:affiliation>Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name><affiliation wicri:level="1"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><affiliation wicri:level="1"><nlm:affiliation>Gustave Roussy, Université Paris-Saclay, Département de Biologie et Pathologie Médicales, INSERM, U1186, Villejuif, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Gustave Roussy, Université Paris-Saclay, Département de Biologie et Pathologie Médicales, INSERM, U1186, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Bruno, William" sort="Bruno, William" uniqKey="Bruno W" first="William" last="Bruno">William Bruno</name><affiliation wicri:level="1"><nlm:affiliation>Department of Internal Medicine and Medical Specialties, University of Genoa and IRCCS AOU San Martino-IST Genoa, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine and Medical Specialties, University of Genoa and IRCCS AOU San Martino-IST Genoa</wicri:regionArea><wicri:noRegion>University of Genoa and IRCCS AOU San Martino-IST Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Calista, Donato" sort="Calista, Donato" uniqKey="Calista D" first="Donato" last="Calista">Donato Calista</name><affiliation wicri:level="1"><nlm:affiliation>Dermatology Unit, Maurizio Bufalini Hospital, Cesena, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Dermatology Unit, Maurizio Bufalini Hospital, Cesena</wicri:regionArea><wicri:noRegion>Cesena</wicri:noRegion></affiliation></author><author><name sortKey="Cannon Albright, Lisa A" sort="Cannon Albright, Lisa A" uniqKey="Cannon Albright L" first="Lisa A" last="Cannon-Albright">Lisa A. Cannon-Albright</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Genetic Epidemiology and Biomedical Informatics, University of Utah, Salt Lake City, Utah, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Genetic Epidemiology and Biomedical Informatics, University of Utah, Salt Lake City, Utah</wicri:regionArea><placeName><region type="state">Utah</region></placeName></affiliation></author><author><name sortKey="Cuellar, Francisco" sort="Cuellar, Francisco" uniqKey="Cuellar F" first="Francisco" last="Cuellar">Francisco Cuellar</name><affiliation wicri:level="3"><nlm:affiliation>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></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"><nlm:affiliation>Sydney School of Public Health, University of Sydney, Sydney, New South Wales, Australia; Melanoma Institute Australia, Westmead, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Sydney School of Public Health, University of Sydney, Sydney, New South Wales, Australia; Melanoma Institute Australia, Westmead, New South Wales</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name><affiliation wicri:level="3"><nlm:affiliation>Genetic Variation and Human Diseases Unit, UMR-946, INSERM, Université Paris Diderot, Université Sorbonne Paris Cité, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Genetic Variation and Human Diseases Unit, UMR-946, INSERM, Université Paris Diderot, Université Sorbonne Paris Cité, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></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:affiliation>Departments of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania</wicri:regionArea><placeName><region type="state">Pennsylvanie</region></placeName></affiliation></author><author><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></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:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Grazziotin, Thais C" sort="Grazziotin, Thais C" uniqKey="Grazziotin T" first="Thais C" last="Grazziotin">Thais C. Grazziotin</name><affiliation wicri:level="2"><nlm:affiliation>Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Rio Grande do Sul</wicri:regionArea><placeName><region type="state">Rio Grande do Sul</region></placeName></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:affiliation>Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Oncology-Pathology, Karolinska Institutet, Stockholm</wicri:regionArea><placeName><settlement type="city">Stockholm</settlement><region nuts="2">Svealand</region></placeName></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:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></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:affiliation>QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>QIMR Berghofer Medical Research Institute, Herston, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Hocevar, Marko" sort="Hocevar, Marko" uniqKey="Hocevar M" first="Marko" last="Hocevar">Marko Hocevar</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Institute of Oncology Ljubljana, Zaloska, 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:affiliation>Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Department of Oncology-Pathology, Karolinska Institutet, 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:affiliation>Departments of Clinical Sciences and Surgery, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Departments of Clinical Sciences and Surgery, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></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:affiliation>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Landman, Gilles" sort="Landman, Gilles" uniqKey="Landman G" first="Gilles" last="Landman">Gilles Landman</name><affiliation wicri:level="3"><nlm:affiliation>Department of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo, Brazil.</nlm:affiliation><country xml:lang="fr">Brésil</country><wicri:regionArea>Department of Pathology, Escola Paulista de Medicina, UNIFESP, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Larre Borges, Alejandra" sort="Larre Borges, Alejandra" uniqKey="Larre Borges A" first="Alejandra" last="Larre-Borges">Alejandra Larre-Borges</name><affiliation wicri:level="1"><nlm:affiliation>Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo, Uruguay.</nlm:affiliation><country xml:lang="fr">Uruguay</country><wicri:regionArea>Unidad de Lesiones Pigmentadas, Cátedra de Dermatología, Hospital de Clínicas, Universidad de la República, Montevideo</wicri:regionArea><wicri:noRegion>Montevideo</wicri:noRegion></affiliation></author><author><name sortKey="Leachman, Sancy A" sort="Leachman, Sancy A" uniqKey="Leachman S" first="Sancy A" last="Leachman">Sancy A. Leachman</name><affiliation wicri:level="4"><nlm:affiliation>Department of Dermatology, Oregon Health & Science University, Portland, Oregon, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Dermatology, Oregon Health & Science University, Portland, Oregon</wicri:regionArea><placeName><region type="state">Oregon</region><settlement type="city">Portland</settlement></placeName><orgName type="university">Université des sciences et de la médecine de l'Oregon</orgName></affiliation></author><author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><affiliation wicri:level="1"><nlm:affiliation>Melanoma Institute Australia, Westmead, New South Wales, Australia; Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, New South Wales, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Melanoma Institute Australia, Westmead, New South Wales, Australia; Westmead Institute for Cancer Research, University of Sydney at Westmead Millennium Institute, New South Wales</wicri:regionArea><wicri:noRegion>New South Wales</wicri:noRegion></affiliation></author><author><name sortKey="Nagore, Eduardo" sort="Nagore, Eduardo" uniqKey="Nagore E" first="Eduardo" last="Nagore">Eduardo Nagore</name><affiliation wicri:level="1"><nlm:affiliation>Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Instituto Valenciano de Oncologia, Valencia</wicri:regionArea><wicri:noRegion>Valencia</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 wicri:level="1"><nlm:affiliation>Departments of Clinical Sciences and Surgery, Lund University, Lund, Sweden.</nlm:affiliation><country xml:lang="fr">Suède</country><wicri:regionArea>Departments of Clinical Sciences and Surgery, Lund University, Lund</wicri:regionArea><wicri:noRegion>Lund</wicri:noRegion></affiliation></author><author><name sortKey="Palmer, Jane M" sort="Palmer, Jane M" uniqKey="Palmer J" first="Jane M" last="Palmer">Jane M. Palmer</name><affiliation wicri:level="1"><nlm:affiliation>QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>QIMR Berghofer Medical Research Institute, Herston, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Peri, Barbara" sort="Peri, Barbara" uniqKey="Peri B" first="Barbara" last="Peri">Barbara Peri</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Oncology Ljubljana, Zaloska, Ljubljana, Slovenia.</nlm:affiliation><country xml:lang="fr">Slovénie</country><wicri:regionArea>Institute of Oncology Ljubljana, Zaloska, Ljubljana</wicri:regionArea><wicri:noRegion>Ljubljana</wicri:noRegion></affiliation></author><author><name sortKey="Pjanova, Dace" sort="Pjanova, Dace" uniqKey="Pjanova D" first="Dace" last="Pjanova">Dace Pjanova</name><affiliation wicri:level="1"><nlm:affiliation>Latvian Biomedical Research and Study Centre, Riga, Latvia.</nlm:affiliation><country xml:lang="fr">Lettonie</country><wicri:regionArea>Latvian Biomedical Research and Study Centre, Riga</wicri:regionArea><wicri:noRegion>Riga</wicri:noRegion></affiliation></author><author><name sortKey="Pritchard, Antonia" sort="Pritchard, Antonia" uniqKey="Pritchard A" first="Antonia" last="Pritchard">Antonia Pritchard</name><affiliation wicri:level="1"><nlm:affiliation>QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>QIMR Berghofer Medical Research Institute, Herston, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name><affiliation wicri:level="3"><nlm:affiliation>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona, Spain.</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain; CIBER de Enfermedades Raras, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></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="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Wadt, Karin A W" sort="Wadt, Karin A W" uniqKey="Wadt K" first="Karin A W" last="Wadt">Karin A W. Wadt</name><affiliation wicri:level="3"><nlm:affiliation>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Whitaker, Linda" sort="Whitaker, Linda" uniqKey="Whitaker L" first="Linda" last="Whitaker">Linda Whitaker</name><affiliation wicri:level="1"><nlm:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></affiliation></author><author><name sortKey="Yang, Xiaohong R" sort="Yang, Xiaohong R" uniqKey="Yang X" first="Xiaohong R" last="Yang">Xiaohong R. Yang</name><affiliation wicri:level="2"><nlm:affiliation>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Genetics Program, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></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:affiliation>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Cancer and Pathology, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds</wicri:regionArea><wicri:noRegion>Leeds</wicri:noRegion></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="3"><nlm:affiliation>Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands.</nlm:affiliation><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Department of Dermatology, Leiden University Medical Centre, Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</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:affiliation>Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida, USA. Electronic address: peter.kanetsky@moffitt.org.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Cancer Epidemiology, H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author></analytic><series><title level="j">The Journal of investigative dermatology</title><idno type="eISSN">1523-1747</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Germline mutations in CDKN2A are frequently identified among melanoma kindreds and are associated with increased atypical nevus counts. However, a clear relationship between pathogenic CDKN2A mutation carriage and other nevus phenotypes including counts of common acquired nevi has not yet been established. Using data from GenoMEL, we investigated the relationships between CDKN2A mutation carriage and 2-mm, 5-mm, and atypical nevus counts among blood-related members of melanoma families. Compared with individuals without a pathogenic mutation, those who carried one had an overall higher prevalence of atypical (odds ratio = 1.64; 95% confidence interval = 1.18-2.28) nevi but not 2-mm nevi (odds ratio = 1.06; 95% confidence interval = 0.92-1.21) or 5-mm nevi (odds ratio = 1.26; 95% confidence interval = 0.94-1.70). Stratification by case status showed more pronounced positive associations among non-case family members, who were nearly three times (odds ratio = 2.91; 95% confidence interval = 1.75-4.82) as likely to exhibit nevus counts at or above the median in all three nevus categories simultaneously when harboring a pathogenic mutation (vs. not harboring one). Our results support the hypothesis that unidentified nevogenic genes are co-inherited with CDKN2A and may influence carcinogenesis.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Brésil</li><li>Danemark</li><li>Espagne</li><li>France</li><li>Israël</li><li>Italie</li><li>Lettonie</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Slovénie</li><li>Suède</li><li>Uruguay</li><li>États-Unis</li></country><region><li>Catalogne</li><li>Floride</li><li>Hollande-Méridionale</li><li>Hovedstaden</li><li>Maryland</li><li>Nouvelle-Galles du Sud</li><li>Oregon</li><li>Pennsylvanie</li><li>Rio Grande do Sul</li><li>Svealand</li><li>Texas</li><li>Utah</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Barcelone</li><li>Copenhague</li><li>Leyde</li><li>Paris</li><li>Portland</li><li>Stockholm</li><li>Sydney</li><li>São Paulo</li></settlement><orgName><li>Université Paris-Descartes</li><li>Université de Sydney</li><li>Université des sciences et de la médecine de l'Oregon</li></orgName></list><tree><country name="États-Unis"><region name="Texas"><name sortKey="Taylor, Nicholas J" sort="Taylor, Nicholas J" uniqKey="Taylor N" first="Nicholas J" last="Taylor">Nicholas J. Taylor</name></region><name sortKey="Cannon Albright, Lisa A" sort="Cannon Albright, Lisa A" uniqKey="Cannon Albright L" first="Lisa A" last="Cannon-Albright">Lisa A. Cannon-Albright</name><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E" last="Elder">David E. Elder</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><name sortKey="Leachman, Sancy A" sort="Leachman, Sancy A" uniqKey="Leachman S" first="Sancy A" last="Leachman">Sancy A. Leachman</name><name sortKey="Mitra, Nandita" sort="Mitra, Nandita" uniqKey="Mitra N" first="Nandita" last="Mitra">Nandita Mitra</name><name sortKey="Tucker, Margaret A" sort="Tucker, Margaret A" uniqKey="Tucker M" first="Margaret A" last="Tucker">Margaret A. Tucker</name><name sortKey="Yang, Xiaohong R" sort="Yang, Xiaohong R" uniqKey="Yang X" first="Xiaohong R" last="Yang">Xiaohong R. Yang</name></country><country name="France"><region name="Île-de-France"><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Françoise" last="Avril">Marie-Françoise Avril</name></region><name sortKey="Bressac De Paillerets, Brigitte" sort="Bressac De Paillerets, Brigitte" uniqKey="Bressac De Paillerets B" first="Brigitte" last="Bressac-De Paillerets">Brigitte Bressac-De Paillerets</name><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name></country><country name="Israël"><noRegion><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name></noRegion></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name></region><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name><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></country><country name="Royaume-Uni"><noRegion><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name></noRegion><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</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="Whitaker, Linda" sort="Whitaker, Linda" uniqKey="Whitaker L" first="Linda" last="Whitaker">Linda Whitaker</name></country><country name="Italie"><noRegion><name sortKey="Bruno, William" sort="Bruno, William" uniqKey="Bruno W" first="William" last="Bruno">William Bruno</name></noRegion><name sortKey="Calista, Donato" sort="Calista, Donato" uniqKey="Calista D" first="Donato" last="Calista">Donato Calista</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Cuellar, Francisco" sort="Cuellar, Francisco" uniqKey="Cuellar F" first="Francisco" last="Cuellar">Francisco Cuellar</name></region><name sortKey="Nagore, Eduardo" sort="Nagore, Eduardo" uniqKey="Nagore E" first="Eduardo" last="Nagore">Eduardo Nagore</name><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E" last="Cust">Anne E. Cust</name></region><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><name sortKey="Palmer, Jane M" sort="Palmer, Jane M" uniqKey="Palmer J" first="Jane M" last="Palmer">Jane M. Palmer</name><name sortKey="Pritchard, Antonia" sort="Pritchard, Antonia" uniqKey="Pritchard A" first="Antonia" last="Pritchard">Antonia Pritchard</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Gerdes, Anne Marie" sort="Gerdes, Anne Marie" uniqKey="Gerdes A" first="Anne-Marie" last="Gerdes">Anne-Marie Gerdes</name></region><name sortKey="Wadt, Karin A W" sort="Wadt, Karin A W" uniqKey="Wadt K" first="Karin A W" last="Wadt">Karin A W. Wadt</name></country><country name="Brésil"><region name="Rio Grande do Sul"><name sortKey="Grazziotin, Thais C" sort="Grazziotin, Thais C" uniqKey="Grazziotin T" first="Thais C" last="Grazziotin">Thais C. Grazziotin</name></region><name sortKey="Landman, Gilles" sort="Landman, Gilles" uniqKey="Landman G" first="Gilles" last="Landman">Gilles Landman</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><name sortKey="Olsson, H Kan" sort="Olsson, H Kan" uniqKey="Olsson H" first="H Kan" last="Olsson">H Kan Olsson</name></country><country name="Slovénie"><noRegion><name sortKey="Hocevar, Marko" sort="Hocevar, Marko" uniqKey="Hocevar M" first="Marko" last="Hocevar">Marko Hocevar</name></noRegion><name sortKey="Peri, Barbara" sort="Peri, Barbara" uniqKey="Peri B" first="Barbara" last="Peri">Barbara Peri</name></country><country name="Uruguay"><noRegion><name sortKey="Larre Borges, Alejandra" sort="Larre Borges, Alejandra" uniqKey="Larre Borges A" first="Alejandra" last="Larre-Borges">Alejandra Larre-Borges</name></noRegion></country><country name="Lettonie"><noRegion><name sortKey="Pjanova, Dace" sort="Pjanova, Dace" uniqKey="Pjanova D" first="Dace" last="Pjanova">Dace Pjanova</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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