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

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Standard

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.

I: The Journal of Investigative Dermatology, Bind 137, Nr. 12, 12.2017, s. 2606-2612.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Taylor, NJ, Mitra, N, Goldstein, AM, Tucker, MA, Avril, M-F, 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, A-M, 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', The Journal of Investigative Dermatology, bind 137, nr. 12, s. 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., Bergman, W., Bishop, D. T., Bressac-de Paillerets, B., Bruno, W., Calista, D., Cannon-Albright, L. A., Cuellar, F., Cust, A. E., Demenais, F., Elder, D. E., Gerdes, A-M., Ghiorzo, P., Grazziotin, T. C., ... GenoMEL Study Group (2017). Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. The Journal of Investigative Dermatology, 137(12), 2606-2612. https://doi.org/10.1016/j.jid.2017.07.829

Vancouver

Taylor NJ, Mitra N, Goldstein AM, Tucker MA, Avril M-F, Azizi E o.a. Germline Variation at CDKN2A and Associations with Nevus Phenotypes among Members of Melanoma Families. The Journal of Investigative Dermatology. 2017 dec.;137(12):2606-2612. https://doi.org/10.1016/j.jid.2017.07.829

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. I: The Journal of Investigative Dermatology. 2017 ; Bind 137, Nr. 12. s. 2606-2612.

Bibtex

@article{83dbe0753a67476cac0b3e611c0aa4ff,

title = "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.",

keywords = "Cyclin-Dependent Kinase Inhibitor p18/genetics, DNA Mutational Analysis, Family Health, Female, Genotype, Germ-Line Mutation, Humans, Male, Melanoma/genetics, Nevus/genetics, Nevus, Pigmented/genetics, Odds Ratio, Phenotype, Registries, Skin Neoplasms/genetics",

author = "Taylor, {Nicholas J} and Nandita Mitra and Goldstein, {Alisa M} and Tucker, {Margaret A} and Marie-Fran{\c c}oise Avril and Esther Azizi and Wilma Bergman and Bishop, {D Timothy} and {Bressac-de Paillerets}, Brigitte and William Bruno and Donato Calista and Cannon-Albright, {Lisa A} and Francisco Cuellar and Cust, {Anne E} and Florence Demenais and Elder, {David E} and Anne-Marie Gerdes and Paola Ghiorzo and Grazziotin, {Thais C} and Johan Hansson and Mark Harland and Hayward, {Nicholas K} and Marko Hocevar and Veronica H{\"o}iom and Christian Ingvar and Landi, {Maria Teresa} and Gilles Landman and Alejandra Larre-Borges and Leachman, {Sancy A} and Mann, {Graham J} and Eduardo Nagore and H{\aa}kan Olsson and Palmer, {Jane M} and Barbara Peri{\'c} and Dace Pjanova and Antonia Pritchard and Susana Puig and {van der Stoep}, Nienke and Wadt, {Karin A W} and Linda Whitaker and Yang, {Xiaohong R} and {Newton Bishop}, {Julia A} and Gruis, {Nelleke A} and Kanetsky, {Peter A} and {GenoMEL Study Group}",

year = "2017",

month = dec,

doi = "10.1016/j.jid.2017.07.829",

language = "English",

volume = "137",

pages = "2606--2612",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "nature publishing group",

number = "12",

}

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

Y1 - 2017/12

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.

KW - Cyclin-Dependent Kinase Inhibitor p18/genetics

KW - DNA Mutational Analysis

KW - Family Health

KW - Female

KW - Genotype

KW - Germ-Line Mutation

KW - Humans

KW - Male

KW - Melanoma/genetics

KW - Nevus/genetics

KW - Nevus, Pigmented/genetics

KW - Odds Ratio

KW - Phenotype

KW - Registries

KW - Skin Neoplasms/genetics

U2 - 10.1016/j.jid.2017.07.829

DO - 10.1016/j.jid.2017.07.829

M3 - Journal article

C2 - 28830827

VL - 137

SP - 2606

EP - 2612

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

IS - 12

ER -

ID: 196908249