Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
AuthorsGoldstein, A M
Stacey, S N
Olafsson, J H
Jonsson, G F
Benediktsdottir, K R
Gulcher, J R
Tucker, M A
MetadataShow full item record
CitationJ. Med. Genet. 2008, 45(5):284-9
AbstractBACKGROUND: Germline CDKN2A mutations have been observed in 20-40% of high risk, melanoma prone families; however, little is known about their prevalence in population based series of melanoma cases and controls. METHODS: We resequenced the CDKN2A gene, including the p14ARF variant and promoter regions, in approximately 703 registry ascertained melanoma cases and 691 population based controls from Iceland, a country in which the incidence of melanoma has increased rapidly. RESULTS: We identified a novel germline variant, G89D, that was strongly associated with increased melanoma risk and appeared to be an Icelandic founder mutation. The G89D variant was present in about 2% of Icelandic invasive cutaneous malignant melanoma cases. Relatives of affected G89D carriers were at significantly increased risk of melanoma, head and neck cancers, and pancreatic carcinoma compared to relatives of other melanoma patients. Nineteen other germline variants were identified, but none conferred an unequivocal risk of melanoma. CONCLUSIONS: This population based study of Icelandic melanoma cases and controls showed a frequency of disease related CDKN2A mutant alleles ranging from 0.7% to 1.0%, thus expanding our knowledge about the frequency of CDKN2A mutations in different populations. In contrast to North America and Australia where a broad spectrum of mutations was observed at a similar frequency, in Iceland, functional CDKN2A mutations consist of only one or two different variants. Additional genetic and/or environmental factors are likely critical for explaining the high incidence rates for melanoma in Iceland. This study adds to the geographic regions for which population based estimates of CDKN2A mutation frequencies are available.
DescriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links field
- Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample.
- Authors: Begg CB, Orlow I, Hummer AJ, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Anton-Culver H, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Mitra N, Busam K, From L, Berwick M, Genes Environment and Melanoma Study Group.
- Issue date: 2005 Oct 19
- Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.
- Authors: Goldstein AM, Chan M, Harland M, Hayward NK, Demenais F, Bishop DT, Azizi E, Bergman W, Bianchi-Scarra G, Bruno W, Calista D, Albright LA, Chaudru V, Chompret A, Cuellar F, Elder DE, Ghiorzo P, Gillanders EM, Gruis NA, Hansson J, Hogg D, Holland EA, Kanetsky PA, Kefford RF, Landi MT, Lang J, Leachman SA, MacKie RM, Magnusson V, Mann GJ, Bishop JN, Palmer JM, Puig S, Puig-Butille JA, Stark M, Tsao H, Tucker MA, Whitaker L, Yakobson E, Lund Melanoma Study Group., Melanoma Genetics Consortium (GenoMEL).
- Issue date: 2007 Feb
- Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families.
- Authors: Peric B, Cerkovnik P, Novakovic S, Zgajnar J, Besic N, Hocevar M
- Issue date: 2008 Sep 19
- Geographical variation in the penetrance of CDKN2A mutations for melanoma.
- Authors: Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, Chompret A, Ghiorzo P, Gruis N, Hansson J, Harland M, Hayward N, Holland EA, Mann GJ, Mantelli M, Nancarrow D, Platz A, Tucker MA, Melanoma Genetics Consortium.
- Issue date: 2002 Jun 19
- Genotype-phenotype relationships in U.S. melanoma-prone families with CDKN2A and CDK4 mutations.
- Authors: Goldstein AM, Struewing JP, Chidambaram A, Fraser MC, Tucker MA
- Issue date: 2000 Jun 21