Genetic heterogeneity in familial malignant melanoma

Hum Mol Genet. 1994 Dec;3(12):2195-200. doi: 10.1093/hmg/3.12.2195.


Following reports of linkage to chromosome 9p in families with malignant melanoma, we have been studying a series of UK families. Six families were selected with three or more cases of malignant melanoma. We have used a total of twelve markers mapping in the interval 9p13-p23 and constructed a set of haplotypes to study the inheritance of the disease chromosome. Of the six families, three were consistent with linkage to the short arm of 9, although their limited size precluded confirmation of linkage. One family was clearly unlinked, one family was either unlinked, or contains a sporadic case, or delimits the location of the melanoma gene, and one family was essentially uninformative. This is strong evidence for genetic heterogeneity in families with the malignant melanoma phenotype. We have also sequenced exon 2 of the recently identified candidate tumour suppressor gene, p16, in six individuals and found no evidence for germline mutations in this region of the p16 gene in our families with inherited malignant melanoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Chromosomes, Human, Pair 9 / genetics*
  • DNA, Neoplasm / genetics
  • Exons
  • Female
  • Genes, Tumor Suppressor
  • Genetic Heterogeneity*
  • Genetic Linkage / genetics
  • Genetic Markers / genetics
  • Haplotypes / genetics
  • Humans
  • Male
  • Melanoma / genetics*
  • Middle Aged
  • Molecular Sequence Data
  • Pedigree
  • Phenotype
  • Skin Neoplasms / genetics*


  • DNA, Neoplasm
  • Genetic Markers