Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group [published erratum appears in Hum Mol Genet 1998 May;7(5):941]

Germline mutations in the p16 and CDK4 genes have been reported in a subsetof melanoma pedigrees, but their prevalence is not well known. We searchedfor such germline mutations in 48 French melanoma-prone families selectedaccording to two major criteria: families with at least three affectedmembers (n = 20) or families with two affected members, one of themaffected before the age of 50 (n = 28), and one additional minor criterion.Sixteen different p16 germline mutations were found in 21 families, whileone germline mutation, Arg24His, was detected in the CDK4 gene. Thefrequency of p16 gene mutation in our sample (44%) is among the highestrates yet reported and the CDK4 mutation is the second mutation detected inthis gene worldwide. In summary, our results show frequent involvement ofthe p16 gene in familial melanoma and confirm the role of the CDK4 gene asa melanoma- predisposing gene.