Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus

Nat Genet. 1994 Sep;8(1):23-6. doi: 10.1038/ng0994-22.


A locus for familial melanoma, MLM, has been mapped within the same interval on chromosome 9p21 as the gene for a putative cell cycle regulator, p16INK4 (CDKN2) MTS1. This gene is homozygously deleted from many tumour cell lines including melanomas, suggesting that CDKN2 is a good candidate for MLM. We have analysed CDKN2 coding sequences in pedigrees segregating 9p melanoma susceptibility and 38 other melanoma-prone families. In only two families were potential predisposing mutations identified. No evidence was found for heterozygous deletions of CDKN2 in the germline of melanoma-prone individuals. The low frequency of potential predisposing mutations detected suggests that either the majority of mutations fall outside the CDKN2 coding sequence or that CDKN2 is not MLM.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Base Sequence
  • Blotting, Southern
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 9*
  • Cyclin-Dependent Kinase Inhibitor p16
  • Gene Frequency
  • Germ-Line Mutation
  • Humans
  • Melanoma / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Skin Neoplasms / genetics*


  • Carrier Proteins
  • Cyclin-Dependent Kinase Inhibitor p16