Approximately 50% of all melanoma families worldwide show linkage to 9p21–22; however, only about half of these families have been shown to contain a germline CDKN2A mutation. It has been proposed that a proportion of these families will carry mutations in the noncoding regions of CDKN2A. Several Canadian families were recently reported to carry a mutation, at position −34 relative to the start site, which gives rise to a new AUG translation initiation codon that markedly decreases translation from the wild-type AUG1. Haplotype sharing in these Canadian families suggested that this mutation might be of British origin. We have sequenced 0.4–1 Kb of the CDKN2A 5′ UTR and promoter in more than 300 Australian individuals with a family history of melanoma. Several known polymorphisms at positions −33, −191, −347, −493 and −735 were detected in addition to two new polymorphisms at positions −252 and −981 relative to the start codon. No individual was found to carry the previously characterized mutation at position −34 or any other disease-associated mutation. To investigate further noncoding CDKN2A mutations that affect transcription, allele-specific expression analysis was carried out in 33 families demonstrating either complete or indeterminate 9p haplotype sharing, in which one individual was heterozygous for at least one CDKN2A polymorphism. Polymerase chain reaction with reverse transcription and automated sequencing revealed expression of both CDKN2A alleles in all individuals tested. The lack of CDKN2A promoter mutations and absence of transcriptional silencing in the germ line suggest that noncoding CDKN2A mutations play a small role in melanoma predisposition.