Article
Germline mutations of the CDKN2 gene in UK melanoma families.
Human molecular genetics - 1 Nov 1997
Harland M, Meloni R, Gruis N, Pinney E, Brookes S, Spurr N K, Frischauf A M, Bataille V, Peters G, Cuzick J, Selby P, Bishop D T, Bishop J N
Abstract excerpt
Germline mutations in CDKN2 on chromosome 9p21, which codes for the cyclin D kinase inhibitor p16, and more rarely, mutations in the gene coding for CDK4, the protein to which p16 binds, underlie susceptibility in some melanoma families. We have sequenced all exons of CDKN2 and analysed the CDK4 gene for mutations in 27 UK families showing evidence of predisposition to melanoma. Five different germline mutations...
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