Germline p16 mutations in familial melanoma

Nat Genet. 1994 Sep;8(1):15-21. doi: 10.1038/ng0994-15.


The p16 gene is located in chromosome 9p21, a region that is linked to familial melanoma and homozygously deleted in many tumour cell lines. We describe eight p16 germline substitutions (one nonsense, one splice donor site and six missense) in 13/18 familial melanoma kindreds. Six of these mutations were identified in 33/36 melanoma cases in nine families, whereas two were detected in normal controls and are not disease-related. The melanoma-specific mutations were detected in 9p21-linked, but not in 1p36-linked, families, thereby confirming previous reports of genetic heterogeneity. Functional analyses of these mutations will confirm those causally related to the development of familial melanoma.

MeSH terms

  • Base Sequence
  • Carrier Proteins*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9
  • Cyclin-Dependent Kinase Inhibitor p16
  • Dysplastic Nevus Syndrome / genetics
  • Female
  • Germ-Line Mutation*
  • Humans
  • Interferon-alpha / genetics
  • Lod Score
  • Male
  • Melanoma / genetics*
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Single-Stranded Conformational
  • Skin Neoplasms / genetics*


  • Carrier Proteins
  • Cyclin-Dependent Kinase Inhibitor p16
  • Interferon-alpha

Associated data

  • GENBANK/U12818
  • GENBANK/U12819
  • GENBANK/U12829