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

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

Author Taylor, Nicholas J. Google Scholar
Mitra, Nandita Google Scholar
Goldstein, Alisa M. Google Scholar
Tucker, Margaret A. Google Scholar
Avil, Marie-Francoise Google Scholar
Azizi, Esther Google Scholar
Bergman, Wilma Google Scholar
Bishop, D. Timothy Google Scholar
Bressac-de Paillerets, Brigitte Google Scholar
Bruno, William Google Scholar
Calista, Donato Google Scholar
Cannon-Albright, Lisa A. Google Scholar
Cuellar, Francisco Google Scholar
Cust, Anne E. Google Scholar
Demenais, Florence Google Scholar
Elder, David E. Google Scholar
Gerdes, Anne-Marie Google Scholar
Ghiorzo, Paola Google Scholar
Grazziotin, Thais C. Google Scholar
Hansson, Johan Google Scholar
Harland, Mark Google Scholar
Hayward, Nicholas K. Google Scholar
Hocevar, Marko Google Scholar
Hoiom, Veronica Google Scholar
Ingvar, Christian Google Scholar
Landi, Maria Teresa Google Scholar
Landman, Gilles Autor UNIFESP Google Scholar
Larre-Borges, Alejandra Google Scholar
Leachman, Sancy A. Google Scholar
Mann, Graham J. Google Scholar
Nagore, Eduardo Google Scholar
Olsson, Hakan Google Scholar
Palmer, Jane M. Google Scholar
Peric, Barbara Google Scholar
Pjanova, Dace Google Scholar
Pritchard, Antonia Google Scholar
Puig, Susana Google Scholar
van der Stoep, Nienke Google Scholar
Wadt, Karin A. W. Google Scholar
Whitaker, Linda Google Scholar
Yang, Xiaohong R. Google Scholar
Bishop, Julia A. Newton Google Scholar
Gruis, Nelleke A. Google Scholar
Kanetsky, Peter A. Google Scholar
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.
xmlui.dri2xhtml.METS-1.0.item-coverage New York
Language English
Sponsor European Commission under the 6th and 7th Framework Programme
Cancer Research UK Programme
Cancer Research UK
US National Institutes of Health
NIH, National Cancer Institute (NCI), Division of Cancer Epidemiology and Genetics
National Health and Medical Research Council of Australia
Cancer Council New South Wales
Cancer Institute New South Wales
Cancer Council Victoria
Cancer Council Queensland
CAPES (Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior)
FAPESP (Fundacao para o Amparo da Pesquisa do Estado de Sao Paulo)-SP, Brazil
National Health and Medical Research Council of Australia
NCI
Cancer Research Foundations of Radiumhemmet
Swedish Cancer Society
Paulsson Trust
Lund University
European Research Council
Fondo de Investigaciones Sanitarias, Spain
CIBER de Enfermedades Raras of the Instituto de Salud Carlos III, Spain
Fondo Europeo de Desarrollo Regional (FEDER), Union Europea, Una manera de hacer Europa
Catalan Government, Spain
Fundacio La Marato de TV3, Catalonia, Spain
Italian Association for Cancer research (AIRC)
Italian Ministry of Health
Programme Hospitalier de Recherche Clinique
Institut National du Cancer (INCA)
Comision Honoraria de Lucha Contra el Cancer, Montevideo, Uruguay
Dutch Cancer Society
CONACYT, Mexico
NHMRC
Cancer Institute NSW
National Institutes of Health
Grant number European Commission under the 6th and 7th Framework Programme: LSH-CT-2006-018702
Cancer Research UK Programme: C588/A4994
Cancer Research UK Programme: C588/ A10589
Cancer Research UK: C8216/A6129
US National Institutes of Health: R01-CA83115
US National Institutes of Health: R01CA5558-01A2
US National Institutes of Health: 5R25-CA147832-04
National Health and Medical Research Council of Australia: NHMRC 107359
National Health and Medical Research Council of Australia: 402761
National Health and Medical Research Council of Australia: 633004
National Health and Medical Research Council of Australia: 566946
National Health and Medical Research Council of Australia: 211172
Cancer Council New South Wales: 77/00
Cancer Council New South Wales: 06/10
Cancer Institute New South Wales: CINSW 05/TPG/1-01
|Cancer Institute New South Wales: 10/TPG/1-02
Cancer Council Queensland: 371
FAPESP: 2007/04313-2
NCI: CA88363
European Research Council: ERC-2011-294576
Fondo de Investigaciones Sanitarias, Spain: P.I. 09/01393
Fondo de Investigaciones Sanitarias, Spain: P.I. 12/ 00840
Catalan Government, Spain: AGAUR 2009 SGR 1337
Catalan Government, Spain: AGAUR 2014_SGR_603
Fundacio La Marato de TV3, Catalonia, Spain: 201331-30
Italian Association for Cancer research (AIRC): 15460
Programme Hospitalier de Recherche Clinique: PHRC-AOM-07-195
Dutch Cancer Society: UL 2012-5489
CONACYT, Mexico: 152256/158706
NHMRC: 1063593
Cancer Institute NSW: 15/CDF/1-14
National Institutes of Health: P30CA042014
Date 2017
Published in Journal Of Investigative Dermatology. New York, v. 137, n. 12, p. 2606-2612, 2017.
ISSN 0022-202X (Sherpa/Romeo, impact factor)
Publisher Elsevier Science Inc
Extent 2606-2612
Origin http://dx.doi.org/10.1016/j.jid.2017.07.829
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000415797600026
URI https://repositorio.unifesp.br/handle/11600/58130

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