Members of some kindreds have a hereditary predisposition for development o
f cutaneous melanoma. Cytogenetic and linkage studies implicated chromosome
s 1p and 9p as possible locations for genetic alterations predisposing for
melanoma. Germline mutations in the CDKN2A gene on chromosome 9p21 have bee
n identified in hereditary melanoma, but are present in only approximately
40% of kindreds with linkage to 9p21, indicating that changes in other gene
(s) at this location may also predispose to melanoma. In a few families, ge
rmline mutations in the CDK4 gene are present. The genetic alterations unde
rlying disease predisposition in a large proportion of melanoma families re
main unknown.