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

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Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. / Taylor, Nicholas J.; Mitra, Nandita; Goldstein, Alisa M.; Tucker, Margaret A.; Avril, Marie Françoise; Azizi, Esther; Bergman, Wilma; Bishop, D. Timothy; Bressac-de Paillerets, Brigitte; Bruno, William; Calista, Donato; Cannon-Albright, Lisa A.; Cuellar, Francisco; Cust, Anne E.; Demenais, Florence; Elder, David E.; Gerdes, Anne Marie; Ghiorzo, Paola; Grazziotin, Thais C.; Hansson, Johan; Harland, Mark; Hayward, Nicholas K.; Hocevar, Marko; Höiom, Veronica; Ingvar, Christian; Landi, Maria Teresa; Landman, Gilles; Larre-Borges, Alejandra; Leachman, Sancy A.; Mann, Graham J.; Nagore, Eduardo; Olsson, Håkan; Palmer, Jane M.; Perić, Barbara; Pjanova, Dace; Pritchard, Antonia; Puig, Susana; van der Stoep, Nienke; Wadt, Karin A.W.; Whitaker, Linda; Yang, Xiaohong R.; Newton Bishop, Julia A.; Gruis, Nelleke A.; Kanetsky, Peter A.; GenoMEL Study Group.

In: Journal of Investigative Dermatology, Vol. 137, No. 12, 01.12.2017, p. 2606-2612.

Research output: Contribution to journalArticle

Harvard

Taylor, NJ, Mitra, N, Goldstein, AM, Tucker, MA, Avril, MF, Azizi, E, Bergman, W, Bishop, DT, Bressac-de Paillerets, B, Bruno, W, Calista, D, Cannon-Albright, LA, Cuellar, F, Cust, AE, Demenais, F, Elder, DE, Gerdes, AM, Ghiorzo, P, Grazziotin, TC, Hansson, J, Harland, M, Hayward, NK, Hocevar, M, Höiom, V, Ingvar, C, Landi, MT, Landman, G, Larre-Borges, A, Leachman, SA, Mann, GJ, Nagore, E, Olsson, H, Palmer, JM, Perić, B, Pjanova, D, Pritchard, A, Puig, S, van der Stoep, N, Wadt, KAW, Whitaker, L, Yang, XR, Newton Bishop, JA, Gruis, NA, Kanetsky, PA & GenoMEL Study Group 2017, 'Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families', Journal of Investigative Dermatology, vol. 137, no. 12, pp. 2606-2612. https://doi.org/10.1016/j.jid.2017.07.829

APA

Taylor, N. J., Mitra, N., Goldstein, A. M., Tucker, M. A., Avril, M. F., Azizi, E., ... GenoMEL Study Group (2017). Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. Journal of Investigative Dermatology, 137(12), 2606-2612. https://doi.org/10.1016/j.jid.2017.07.829

CBE

Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril MF, Azizi E, Bergman W, Bishop DT, Bressac-de Paillerets B, Bruno W, Calista D, Cannon-Albright LA, Cuellar F, Cust AE, Demenais F, Elder DE, Gerdes AM, Ghiorzo P, Grazziotin TC, Hansson J, Harland M, Hayward NK, Hocevar M, Höiom V, Ingvar C, Landi MT, Landman G, Larre-Borges A, Leachman SA, Mann GJ, Nagore E, Olsson H, Palmer JM, Perić B, Pjanova D, Pritchard A, Puig S, van der Stoep N, Wadt KAW, Whitaker L, Yang XR, Newton Bishop JA, Gruis NA, Kanetsky PA, GenoMEL Study Group. 2017. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. Journal of Investigative Dermatology. 137(12):2606-2612. https://doi.org/10.1016/j.jid.2017.07.829

MLA

Vancouver

Author

Taylor, Nicholas J. ; Mitra, Nandita ; Goldstein, Alisa M. ; Tucker, Margaret A. ; Avril, Marie Françoise ; Azizi, Esther ; Bergman, Wilma ; Bishop, D. Timothy ; Bressac-de Paillerets, Brigitte ; Bruno, William ; Calista, Donato ; Cannon-Albright, Lisa A. ; Cuellar, Francisco ; Cust, Anne E. ; Demenais, Florence ; Elder, David E. ; Gerdes, Anne Marie ; Ghiorzo, Paola ; Grazziotin, Thais C. ; Hansson, Johan ; Harland, Mark ; Hayward, Nicholas K. ; Hocevar, Marko ; Höiom, Veronica ; Ingvar, Christian ; Landi, Maria Teresa ; Landman, Gilles ; Larre-Borges, Alejandra ; Leachman, Sancy A. ; Mann, Graham J. ; Nagore, Eduardo ; Olsson, Håkan ; Palmer, Jane M. ; Perić, Barbara ; Pjanova, Dace ; Pritchard, Antonia ; Puig, Susana ; van der Stoep, Nienke ; Wadt, Karin A.W. ; Whitaker, Linda ; Yang, Xiaohong R. ; Newton Bishop, Julia A. ; Gruis, Nelleke A. ; Kanetsky, Peter A. ; GenoMEL Study Group. / Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. In: Journal of Investigative Dermatology. 2017 ; Vol. 137, No. 12. pp. 2606-2612.

RIS

TY - JOUR

T1 - Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families

AU - Taylor, Nicholas J.

AU - Mitra, Nandita

AU - Goldstein, Alisa M.

AU - Tucker, Margaret A.

AU - Avril, Marie Françoise

AU - Azizi, Esther

AU - Bergman, Wilma

AU - Bishop, D. Timothy

AU - Bressac-de Paillerets, Brigitte

AU - Bruno, William

AU - Calista, Donato

AU - Cannon-Albright, Lisa A.

AU - Cuellar, Francisco

AU - Cust, Anne E.

AU - Demenais, Florence

AU - Elder, David E.

AU - Gerdes, Anne Marie

AU - Ghiorzo, Paola

AU - Grazziotin, Thais C.

AU - Hansson, Johan

AU - Harland, Mark

AU - Hayward, Nicholas K.

AU - Hocevar, Marko

AU - Höiom, Veronica

AU - Ingvar, Christian

AU - Landi, Maria Teresa

AU - Landman, Gilles

AU - Larre-Borges, Alejandra

AU - Leachman, Sancy A.

AU - Mann, Graham J.

AU - Nagore, Eduardo

AU - Olsson, Håkan

AU - Palmer, Jane M.

AU - Perić, Barbara

AU - Pjanova, Dace

AU - Pritchard, Antonia

AU - Puig, Susana

AU - van der Stoep, Nienke

AU - Wadt, Karin A.W.

AU - Whitaker, Linda

AU - Yang, Xiaohong R.

AU - Newton Bishop, Julia A.

AU - Gruis, Nelleke A.

AU - Kanetsky, Peter A.

AU - GenoMEL Study Group

PY - 2017/12/1

Y1 - 2017/12/1

N2 - 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.

AB - 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.

U2 - 10.1016/j.jid.2017.07.829

DO - 10.1016/j.jid.2017.07.829

M3 - Article

VL - 137

SP - 2606

EP - 2612

JO - Advances in biology of skin

T2 - Advances in biology of skin

JF - Advances in biology of skin

SN - 1523-1747

IS - 12

ER -