CDKN2A variants in a population-based sample of Queensland families with melanoma

tibility to cutaneous malignant melanoma (CMM); however, the population incidence of such mutations is unknown. Polymorphisms in CDKN2A have also been described, but it is not known whether they influence melanoma risk. We investigated the association of CDKN2A mutations and poly-morphisms with melanoma risk in a population-based sample of families ascertained through probands with mela-noma. Methods: The 482 Queensland, Australia, families in our sample were characterized previously as having high, intermediate, or low family risk of CMM. Unrelated indi-viduals (n = 200 families/individuals) drawn from the Aus-tralian Twin Registry served as control subjects. For indi-viduals in the high-risk group, the entire CDKN2A gene coding region was screened for mutations by use of the poly-merase chain reaction, agarose gel electrophoresis, allele