Analysis of the p16 gene, CDKN2, in 17 Australian melanoma kindreds

Elizabeth A. Holland*, Sharon C. Beaton, Therese M. Becker, Odile M.C. Grulet, Barbara A. Peters, Helen Rizos, Richard F. Kefford, Graham J. Mann

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

101 Citations (Scopus)


CDKN2 has been implicated as a melanoma susceptibility gene in some kindreds with a family history of this disease. Mutation analysis of CDKN2 in 17 familial melanoma Australian kindreds revealed a paucity of exon mutations and none of the previously described disease-related mutations. One novel germline mutation was found in exon one, Arg24Pro, which segregates with melanoma in 1/17 kindreds. Two previously described polymorphisms, Ala148Thr and a base change at nucleotide 540 were detected and one novel polymorphism in the untranslated region of exon 3 (nucleotide 580) was also found. Together with other recent reports, these findings provide support for CDKN2 as a susceptibility locus for familial melanoma but suggest that other loci are involved in some hereditary melanoma kindreds.

Original languageEnglish
Pages (from-to)2288-2294
Number of pages7
Issue number11
Publication statusPublished - 7 Dec 1995
Externally publishedYes


  • CDKN2
  • Cyclin dependent kinase inhibitor
  • Familial melanoma
  • Mutation linkage
  • p16


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