Mutation of the CDKN2A 5' UTR creates an aberrant initiation codon and predisposes to melanoma.
AuthorsLiu L, Dilworth D, Gao L, Monzon J, Summers A, Lassam N, Hogg D
JournalNature Genetics
PubMed ID9916806
'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 kinase inhibitor that ... More