No evidence of mutation in the human PTC gene, responsible for nevoid basal cell carcinoma syndrome, in human primary squamous cell carcinomas of the esophagus and lung

Jpn J Cancer Res. 1997 Mar;88(3):225-8. doi: 10.1111/j.1349-7006.1997.tb00370.x.


The high frequency of loss of heterozygosity that has been observed on the distal region of the long arm of chromosome 9 in squamous cell carcinomas of esophagus, lung, uterus, and head and neck indicates the presence of a tumor suppressor gene(s) in this region. To investigate the possible role of the PTC gene on chromosome 9q22.3, that was identified as the cause of nevoid basal cell carcinoma syndrome, during carcinogenesis in esophagus and lung, we examined 20 esophageal squamous cell carcinomas and 10 squamous cell carcinomas of the lung for mutations in any coding exon of PTC. Using single-strand conformation polymorphism and direct sequencing, we detected no mutations other than two non-deleterious polymorphisms. Our results suggest that inactivation of some tumor suppressor gene(s) on 9q other than PTC contributes to the development of squamous cell carcinomas in these tissues.

MeSH terms

  • Basal Cell Nevus Syndrome / genetics*
  • Base Sequence
  • Carcinoma, Squamous Cell / genetics*
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 9*
  • Esophageal Neoplasms / genetics*
  • Exons
  • Genes, Tumor Suppressor*
  • Humans
  • Lung Neoplasms / genetics*
  • Molecular Sequence Data
  • Mutation
  • Polymorphism, Single-Stranded Conformational