Article
Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.
Nature genetics - 1 Jan 1999
Liu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N, Hogg D
Abstract excerpt
Approximately 8-12% of melanoma is inherited in an autosomal dominant fashion with variable penetrance. A chromosome 9p21 locus has been linked to this disease in 50-80% of affected families. CDKN2A (also known as P16, INK4, p16INK4A and MTS1) is allelic to this locus and encodes a cdk4/cdk6 kina...
Topics
- 5' Untranslated Regions
- Alleles
- Cell Line, Transformed
- Codon, Initiator
- Cyclin-Dependent Kinase Inhibitor p16
- Female
- Genetic Predisposition to Disease
- Guanine
- Humans
- Male
- Melanoma
- Mutation