Prevalence of Germ-Line Mutations in p16, p19ARF, and CDK4 in Familial Melanoma: Analysis of a Clinic-Based Population
โ Scribed by Michael G. FitzGerald, D. Paul Harkin, Sandra Silva-Arrieta, Deborah J. MacDonald, Leslie C. Lucchina, Hilal Unsal, Erin O'Neill, Jim Koh, Dianne M. Finkelstein, Kurt J. Isselbacher, Arthur J. Sober and Daniel A. Haber
- Book ID
- 123640030
- Publisher
- National Academy of Sciences
- Year
- 1996
- Tongue
- English
- Weight
- 905 KB
- Volume
- 93
- Category
- Article
- ISSN
- 0027-8424
- DOI
- 10.2307/39899
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Germline mutations within the CDKN2A gene, coding for the cyclin-dependent kinase inhibitor p16, have been detected by screening in 8% of Swedish families with an inheritance of cutaneous melanoma (FMM) and dysplastic nevus syndrome (DNS). Contrastingly, the closely related gene CDKN2B had no diseas
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16 INK4a and CDK4) was undertaken in 131 probands with a family history of melanoma. Screening of all three exons of CDKN2A and exon 2 of CDK4 by single-strand conformation polymorphism (SSCP) analysis and/or direct sequenci