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


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.

SUBMITTER: Taylor NJ 

PROVIDER: S-EPMC5701856 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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

Taylor Nicholas J NJ   Mitra Nandita N   Goldstein Alisa M AM   Tucker Margaret A MA   Avril Marie-Françoise MF   Azizi Esther E   Bergman Wilma W   Bishop D Timothy DT   Bressac-de Paillerets Brigitte B   Bruno William W   Calista Donato D   Cannon-Albright Lisa A LA   Cuellar Francisco F   Cust Anne E AE   Demenais Florence F   Elder David E DE   Gerdes Anne-Marie AM   Ghiorzo Paola P   Grazziotin Thais C TC   Hansson Johan J   Harland Mark M   Hayward Nicholas K NK   Hocevar Marko M   Höiom Veronica V   Ingvar Christian C   Landi Maria Teresa MT   Landman Gilles G   Larre-Borges Alejandra A   Leachman Sancy A SA   Mann Graham J GJ   Nagore Eduardo E   Olsson Håkan H   Palmer Jane M JM   Perić Barbara B   Pjanova Dace D   Pritchard Antonia A   Puig Susana S   van der Stoep Nienke N   Wadt Karin A W KAW   Whitaker Linda L   Yang Xiaohong R XR   Newton Bishop Julia A JA   Gruis Nelleke A NA   Kanetsky Peter A PA  

The Journal of investigative dermatology 20170819 12


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  ...[more]

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