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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

ABSTRACT: The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer.These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents.Overall, 39% of families had CDKN2A mutations ranging from 20% (32/162) in Australia to 45% (29/65) in North America to 57% (89/157) in Europe. All four features in each group, except pancreatic cancer in Australia (p = 0.38), individually showed significant associations with CDKN2A mutations, but the effects varied widely across continents. Multivariate examination also showed different predictors of mutation risk across continents. In Australian families, > or =2 patients with MPM, median age at melanoma diagnosis < or =40 years and > or =6 patients with melanoma in a family jointly predicted the mutation risk. In European families, all four factors concurrently predicted the risk, but with less stringent criteria than in Australia. In North American families, only > or =1 patient with MPM and age at diagnosis < or =40 years simultaneously predicted the mutation risk.The variation in CDKN2A mutations for the four features across continents is consistent with the lower melanoma incidence rates in Europe and higher rates of sporadic melanoma in Australia. The lack of a pancreatic cancer-CDKN2A mutation relationship in Australia probably reflects the divergent spectrum of mutations in families from Australia versus those from North America and Europe. GenoMEL is exploring candidate host, genetic and/or environmental risk factors to better understand the variation observed.

SUBMITTER: Goldstein AM 

PROVIDER: S-EPMC2598064 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature

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Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Goldstein Alisa M AM   Chan May M   Harland Mark M   Hayward Nicholas K NK   Demenais Florence F   Bishop D Timothy DT   Azizi Esther E   Bergman Wilma W   Bianchi-Scarra Giovanna G   Bruno William W   Calista Donato D   Albright Lisa A Cannon LA   Chaudru Valerie V   Chompret Agnes A   Cuellar Francisco F   Elder David E DE   Ghiorzo Paola P   Gillanders Elizabeth M EM   Gruis Nelleke A NA   Hansson Johan J   Hogg David D   Holland Elizabeth A EA   Kanetsky Peter A PA   Kefford Richard F RF   Landi Maria Teresa MT   Lang Julie J   Leachman Sancy A SA   MacKie Rona M RM   Magnusson Veronica V   Mann Graham J GJ   Bishop Julia Newton JN   Palmer Jane M JM   Puig Susana S   Puig-Butille Joan A JA   Stark Mitchell M   Tsao Hensin H   Tucker Margaret A MA   Whitaker Linda L   Yakobson Emanuel E  

Journal of medical genetics 20060811 2

<h4>Background</h4>The major factors individually reported to be associated with an increased frequency of CDKN2A mutations are increased number of patients with melanoma in a family, early age at melanoma diagnosis, and family members with multiple primary melanomas (MPM) or pancreatic cancer.<h4>Methods</h4>These four features were examined in 385 families with > or =3 patients with melanoma pooled by 17 GenoMEL groups, and these attributes were compared across continents.<h4>Results</h4>Overa  ...[more]

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