Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

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dc.citation.issue12
dc.citation.volume137
dc.contributor.authorTaylor, Nicholas J.
dc.contributor.authorMitra, Nandita
dc.contributor.authorGoldstein, Alisa M.
dc.contributor.authorTucker, Margaret A.
dc.contributor.authorAvil, Marie-Francoise
dc.contributor.authorAzizi, Esther
dc.contributor.authorBergman, Wilma
dc.contributor.authorBishop, D. Timothy
dc.contributor.authorBressac-de Paillerets, Brigitte
dc.contributor.authorBruno, William
dc.contributor.authorCalista, Donato
dc.contributor.authorCannon-Albright, Lisa A.
dc.contributor.authorCuellar, Francisco
dc.contributor.authorCust, Anne E.
dc.contributor.authorDemenais, Florence
dc.contributor.authorElder, David E.
dc.contributor.authorGerdes, Anne-Marie
dc.contributor.authorGhiorzo, Paola
dc.contributor.authorGrazziotin, Thais C.
dc.contributor.authorHansson, Johan
dc.contributor.authorHarland, Mark
dc.contributor.authorHayward, Nicholas K.
dc.contributor.authorHocevar, Marko
dc.contributor.authorHoiom, Veronica
dc.contributor.authorIngvar, Christian
dc.contributor.authorLandi, Maria Teresa
dc.contributor.authorLandman, Gilles [UNIFESP]
dc.contributor.authorLarre-Borges, Alejandra
dc.contributor.authorLeachman, Sancy A.
dc.contributor.authorMann, Graham J.
dc.contributor.authorNagore, Eduardo
dc.contributor.authorOlsson, Hakan
dc.contributor.authorPalmer, Jane M.
dc.contributor.authorPeric, Barbara
dc.contributor.authorPjanova, Dace
dc.contributor.authorPritchard, Antonia
dc.contributor.authorPuig, Susana
dc.contributor.authorvan der Stoep, Nienke
dc.contributor.authorWadt, Karin A. W.
dc.contributor.authorWhitaker, Linda
dc.contributor.authorYang, Xiaohong R.
dc.contributor.authorBishop, Julia A. Newton
dc.contributor.authorGruis, Nelleke A.
dc.contributor.authorKanetsky, Peter A.
dc.coverageNew York
dc.date.accessioned2020-09-01T13:21:13Z
dc.date.available2020-09-01T13:21:13Z
dc.date.issued2017
dc.description.abstractGermline 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.en
dc.description.affiliationTexas A&M Hlth Sci Ctr, Dept Epidemiol & Biostat, College Stn, TX USA
dc.description.affiliationUniv Penn, Dept Biostat & Epidemiol, Philadelphia, PA USA
dc.description.affiliationNatl Canc Inst, Div Canc Epidemiol & Genet, Human Genet Program, Bethesda, MD USA
dc.description.affiliationHop Cochin, AP HP, Paris, France
dc.description.affiliationUniv Paris 05, Paris, France
dc.description.affiliationTel Aviv Univ, Sackler Fac Med, Sheba Med Ctr, Dept Dermatol, Tel Aviv, Israel
dc.description.affiliationLeiden Univ, Med Ctr, Dept Dermatol, Leiden, Netherlands
dc.description.affiliationSt James Univ Hosp, Canc Res UK Clin Ctr Leeds, Leeds Inst Canc & Pathol, Sect Epidemiol & Biostat, Leeds, W Yorkshire, England
dc.description.affiliationUniv Paris Saclay, Gustave Roussy, Dept Biol & Pathol Med, INSERM,U1186, Villejuif, France
dc.description.affiliationUniv Genoa, Dept Internal Med & Med Specialties, Genoa, Italy
dc.description.affiliationIRCCS, AOU San Martino IST, Genoa, Italy
dc.description.affiliationMaurizio Bufalini Hosp, Dermatol Unit, Cesena, Italy
dc.description.affiliationUniv Utah, Dept Genet Epidemiol, Salt Lake City, UT USA
dc.description.affiliationUniv Utah, Dept Biomed Informat, Salt Lake City, UT USA
dc.description.affiliationHosp Clin Barcelona, IDIBAPS, Dermatol Dept, Melanoma Unit, Barcelona, Spain
dc.description.affiliationCIBER Enfermedades Raras, Barcelona, Spain
dc.description.affiliationUniv Sydney, Sydney Sch Publ Hlth, Sydney, NSW, Australia
dc.description.affiliationMelanoma Inst Australia, Westmead, NSW, Australia
dc.description.affiliationUniv Paris Diderot, Univ Sorbonne Paris Cite, INSERM, Genet Variat & Human Dis Unit,UMR 946, Paris, France
dc.description.affiliationUniv Penn, Sch Med, Dept Pathol & Lab Med, Philadelphia, PA USA
dc.description.affiliationUniv Copenhagen Hosp, Dept Clin Genet, Copenhagen, Denmark
dc.description.affiliationUniv Fed Ciencias Sau Porto Alegre, Porto Alegre, RS, Brazil
dc.description.affiliationKarolinska Inst, Dept Oncol Pathol, Stockholm, Sweden
dc.description.affiliationQIMR Berghofer Med Res Inst, Herston, Qld, Australia
dc.description.affiliationInst Oncol Ljubljana, Ljubljana, Slovenia
dc.description.affiliationLund Univ, Dept Clin Sci, Lund, Sweden
dc.description.affiliationLund Univ, Dept Surg, Lund, Sweden
dc.description.affiliationUniv Fed Sao Paulo, Escola Paulista Med, Dept Pathol, Sao Paulo, Brazil
dc.description.affiliationUniv Republica, Hosp Clin, Unidad Lesiones Pigmentadas Catedra Dermatol, Montevideo, Uruguay
dc.description.affiliationOregon Hlth & Sci Univ, Dept Dermatol, Portland, OR 97201 USA
dc.description.affiliationUniv Sydney, Westmead Millennium Inst, Westmead Inst Canc Res, Sydney, NSW, Australia
dc.description.affiliationInst Valenciano Oncol, Dept Dermatol, Valencia, Spain
dc.description.affiliationLatvian Biomed Res & Study Ctr, Riga, Latvia
dc.description.affiliationH Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL USA
dc.description.affiliationUnifespUniv Fed Sao Paulo, Escola Paulista Med, Dept Pathol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipEuropean Commission under the 6th and 7th Framework Programme
dc.description.sponsorshipCancer Research UK Programme
dc.description.sponsorshipCancer Research UK
dc.description.sponsorshipUS National Institutes of Health
dc.description.sponsorshipNIH, National Cancer Institute (NCI), Division of Cancer Epidemiology and Genetics
dc.description.sponsorshipNational Health and Medical Research Council of Australia
dc.description.sponsorshipCancer Council New South Wales
dc.description.sponsorshipCancer Institute New South Wales
dc.description.sponsorshipCancer Council Victoria
dc.description.sponsorshipCancer Council Queensland
dc.description.sponsorshipCAPES (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior)
dc.description.sponsorshipFAPESP (Fundacao para o Amparo da Pesquisa do Estado de Sao Paulo)-SP, Brazil
dc.description.sponsorshipNational Health and Medical Research Council of Australia
dc.description.sponsorshipNCI
dc.description.sponsorshipCancer Research Foundations of Radiumhemmet
dc.description.sponsorshipSwedish Cancer Society
dc.description.sponsorshipPaulsson Trust
dc.description.sponsorshipLund University
dc.description.sponsorshipEuropean Research Council
dc.description.sponsorshipFondo de Investigaciones Sanitarias, Spain
dc.description.sponsorshipCIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
dc.description.sponsorshipFondo Europeo de Desarrollo Regional (FEDER), Union Europea, Una manera de hacer Europa
dc.description.sponsorshipCatalan Government, Spain
dc.description.sponsorshipFundacio La Marato de TV3, Catalonia, Spain
dc.description.sponsorshipItalian Association for Cancer research (AIRC)
dc.description.sponsorshipItalian Ministry of Health
dc.description.sponsorshipProgramme Hospitalier de Recherche Clinique
dc.description.sponsorshipInstitut National du Cancer (INCA)
dc.description.sponsorshipComision Honoraria de Lucha Contra el Cancer, Montevideo, Uruguay
dc.description.sponsorshipDutch Cancer Society
dc.description.sponsorshipCONACYT, Mexico
dc.description.sponsorshipNHMRC
dc.description.sponsorshipCancer Institute NSW
dc.description.sponsorshipNational Institutes of Health
dc.description.sponsorshipIDEuropean Commission under the 6th and 7th Framework Programme: LSH-CT-2006-018702
dc.description.sponsorshipIDCancer Research UK Programme: C588/A4994
dc.description.sponsorshipIDCancer Research UK Programme: C588/ A10589
dc.description.sponsorshipIDCancer Research UK: C8216/A6129
dc.description.sponsorshipIDUS National Institutes of Health: R01-CA83115
dc.description.sponsorshipIDUS National Institutes of Health: R01CA5558-01A2
dc.description.sponsorshipIDUS National Institutes of Health: 5R25-CA147832-04
dc.description.sponsorshipIDNational Health and Medical Research Council of Australia: NHMRC 107359
dc.description.sponsorshipIDNational Health and Medical Research Council of Australia: 402761
dc.description.sponsorshipIDNational Health and Medical Research Council of Australia: 633004
dc.description.sponsorshipIDNational Health and Medical Research Council of Australia: 566946
dc.description.sponsorshipIDNational Health and Medical Research Council of Australia: 211172
dc.description.sponsorshipIDCancer Council New South Wales: 77/00
dc.description.sponsorshipIDCancer Council New South Wales: 06/10
dc.description.sponsorshipIDCancer Institute New South Wales: CINSW 05/TPG/1-01
dc.description.sponsorshipID|Cancer Institute New South Wales: 10/TPG/1-02
dc.description.sponsorshipIDCancer Council Queensland: 371
dc.description.sponsorshipIDFAPESP: 2007/04313-2
dc.description.sponsorshipIDNCI: CA88363
dc.description.sponsorshipIDEuropean Research Council: ERC-2011-294576
dc.description.sponsorshipIDFondo de Investigaciones Sanitarias, Spain: P.I. 09/01393
dc.description.sponsorshipIDFondo de Investigaciones Sanitarias, Spain: P.I. 12/ 00840
dc.description.sponsorshipIDCatalan Government, Spain: AGAUR 2009 SGR 1337
dc.description.sponsorshipIDCatalan Government, Spain: AGAUR 2014_SGR_603
dc.description.sponsorshipIDFundacio La Marato de TV3, Catalonia, Spain: 201331-30
dc.description.sponsorshipIDItalian Association for Cancer research (AIRC): 15460
dc.description.sponsorshipIDProgramme Hospitalier de Recherche Clinique: PHRC-AOM-07-195
dc.description.sponsorshipIDDutch Cancer Society: UL 2012-5489
dc.description.sponsorshipIDCONACYT, Mexico: 152256/158706
dc.description.sponsorshipIDNHMRC: 1063593
dc.description.sponsorshipIDCancer Institute NSW: 15/CDF/1-14
dc.description.sponsorshipIDNational Institutes of Health: P30CA042014
dc.format.extent2606-2612
dc.identifierhttp://dx.doi.org/10.1016/j.jid.2017.07.829
dc.identifier.citationJournal Of Investigative Dermatology. New York, v. 137, n. 12, p. 2606-2612, 2017.
dc.identifier.doi10.1016/j.jid.2017.07.829
dc.identifier.issn0022-202X
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/58130
dc.identifier.wosWOS:000415797600026
dc.language.isoeng
dc.publisherElsevier Science Inc
dc.relation.ispartofJournal Of Investigative Dermatology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.titleGermline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Familiesen
dc.typeinfo:eu-repo/semantics/article
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