Article
MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations.
American journal of human genetics - 1 Oct 2001
Box N F, Duffy D L, Chen W, Stark M, Martin N G, Sturm R A, Hayward N K
Abstract excerpt
Mutations in the exons of the cyclin-dependent kinase inhibitor gene CDKN2A are melanoma-predisposition alleles which have high penetrance, although they have low population frequencies. In contrast, variants of the melanocortin-1 receptor gene, MC1R, confer much lower melanoma risk but are common in European populations. Fifteen Australian CDKN2A mutation-carrying melanoma pedigrees were assessed for MC1R...
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