Delineation of two distinct deleted regions on chromosome 9 in human non-melanoma skin cancers

Genes Chromosomes Cancer. 1994 Dec;11(4):222-5. doi: 10.1002/gcc.2870110404.


The mapping of the naevoid basal cell carcinoma syndrome (NBCCS) and the Ferguson-Smith syndrome to the same region on chromosome arm 9q has led to speculation that the two conditions may reflect different mutations within the same gene. Loss of heterozygosity of 9q alleles in both familial and sporadic basal cell carcinomas (BCCs) suggests that the NBCCS gene on 9q is acting as a tumour suppressor gene. Although LOH of 9q markers has not been studied in squamous cell neoplasms from patients with the Ferguson-Smith syndrome, chromosome 9 allele loss has been reported in sporadic squamous cell carcinomas (SCCs) of the skin. In order to characterise further the deleted region on chromosome 9 in BCCs and SCCs of the skin we have examined a series of non-melanoma skin cancers using a panel of highly informative microsatellite markers. Forty-four BCCs and 49 SCCs were studied. Loss of heterozygosity of one or more 9q markers was seen in 33 of the 44 BCCs. Only 4 of the 33 BCCs with 9q loss showed loss of 9p markers. Twenty-two BCCs showed loss of all informative 9q markers. Partial or interstitial 9q deletions were seen in 5 BCCs, and in 3 of these 5 BCCs the breakpoint occurred within the currently defined NBCCS locus. Chromosome 9 loss was seen in 16 of 49 SCCs. In contrast to the low frequency of 9p loss in BCCs, LOH of 9p markers was a common finding in SCCs, occurring in 15 of the 16 SCCs with chromosome 9 loss. In 5 SCCs 9p loss occurred with retention of 9q alleles.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Carcinoma, Basal Cell / genetics*
  • Carcinoma, Squamous Cell / genetics*
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9*
  • DNA Probes
  • Genetic Markers
  • Heterozygote
  • Humans
  • Polymorphism, Genetic
  • Repetitive Sequences, Nucleic Acid
  • Skin Neoplasms / genetics*


  • DNA Probes
  • Genetic Markers