Population-based prevalence of CDKN2A mutations in Utah melanoma families

Mark J. Eliason, April A. Larson, Scott R. Florell, John J. Zone, Lisa A. Cannon-Albright, Wolfram E. Samlowski, Sancy Leachman

Research output: Contribution to journalArticle

48 Citations (Scopus)

Abstract

Cyclin-dependent kinase inhibitor 2A (CDKN2A or p16) is the major melanoma predisposition gene. In order to evaluate the candidacy for genetic testing of CDKN2A mutations among melanoma prone families, it is important to identify characteristics that predict a high likelihood of carrying a CDKN2A mutation. We primarily used a unique Utah genealogical resource to identify independent melanoma prone families whom we tested for mutations in CDKN2A, cyclin-dependent kinase 4, and alternate reading frame. We sampled 60 families which met the inclusion criteria of two or more affected first-degree relatives. We found four different pathogenic CDKN2A mutations in five families, mutations of uncertain significance in two families, and known polymorphisms in three families. One of the mutations of uncertain significance, 5′ untranslated region -25C>T, has not been previously described. Among our population-based set of Utah families, the prevalence of CDKN2A mutations was 8.2% (4/49); the overall prevalence when physician-referred pedigrees were also considered was between 8.3% (5/60) and 10% (6/60). Having four or more first- or second-degree relatives with melanoma, or a family member with ≤3 primary melanomas, correlated strongly with carrying a CDKN2A mutation. We observed a significantly elevated rate of pancreatic cancer in one of four families with a deleterious CDKN2A mutation.

Original languageEnglish (US)
Pages (from-to)660-666
Number of pages7
JournalJournal of Investigative Dermatology
Volume126
Issue number3
DOIs
StatePublished - Mar 2006
Externally publishedYes

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Cyclin-Dependent Kinase Inhibitor p16
Cyclin-Dependent Kinase 4
5' Untranslated Regions
Polymorphism
Melanoma
Genes
Mutation
Testing
Population
Reading Frames
Genetic Testing
Pedigree
Pancreatic Neoplasms

ASJC Scopus subject areas

  • Dermatology

Cite this

Eliason, M. J., Larson, A. A., Florell, S. R., Zone, J. J., Cannon-Albright, L. A., Samlowski, W. E., & Leachman, S. (2006). Population-based prevalence of CDKN2A mutations in Utah melanoma families. Journal of Investigative Dermatology, 126(3), 660-666. https://doi.org/10.1038/sj.jid.5700094

Population-based prevalence of CDKN2A mutations in Utah melanoma families. / Eliason, Mark J.; Larson, April A.; Florell, Scott R.; Zone, John J.; Cannon-Albright, Lisa A.; Samlowski, Wolfram E.; Leachman, Sancy.

In: Journal of Investigative Dermatology, Vol. 126, No. 3, 03.2006, p. 660-666.

Research output: Contribution to journalArticle

Eliason, MJ, Larson, AA, Florell, SR, Zone, JJ, Cannon-Albright, LA, Samlowski, WE & Leachman, S 2006, 'Population-based prevalence of CDKN2A mutations in Utah melanoma families', Journal of Investigative Dermatology, vol. 126, no. 3, pp. 660-666. https://doi.org/10.1038/sj.jid.5700094
Eliason MJ, Larson AA, Florell SR, Zone JJ, Cannon-Albright LA, Samlowski WE et al. Population-based prevalence of CDKN2A mutations in Utah melanoma families. Journal of Investigative Dermatology. 2006 Mar;126(3):660-666. https://doi.org/10.1038/sj.jid.5700094
Eliason, Mark J. ; Larson, April A. ; Florell, Scott R. ; Zone, John J. ; Cannon-Albright, Lisa A. ; Samlowski, Wolfram E. ; Leachman, Sancy. / Population-based prevalence of CDKN2A mutations in Utah melanoma families. In: Journal of Investigative Dermatology. 2006 ; Vol. 126, No. 3. pp. 660-666.
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