Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome

J Invest Dermatol. 1998 Jun;110(6):885-8. doi: 10.1046/j.1523-1747.1998.00222.x.


Mutations in PATCHED (PTC), the human homolog of the Drosophila patched gene, have been identified in most exons of the gene in patients with the basal cell nevus syndrome and in sporadic basal cell carcinomas. We have screened the 23 PTC exons for mutations using single strand conformation polymorphism analysis of DNA from 86 basal cell nevus syndrome probands, 26 sporadic basal cell carcinomas, and seven basal cell nevus syndrome-associated basal cell carcinomas. This screen identified mutations located in eight exons in 13 of the basal cell nevus syndrome patients and in three of the tumors. The most common mutations were frameshifts resulting in premature chain termination. These results provide further evidence for the crucial role of PTC as a tumor suppressor in human keratinocytes.

Publication types

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

MeSH terms

  • Amino Acid Substitution / genetics
  • Basal Cell Nevus Syndrome / complications
  • Basal Cell Nevus Syndrome / genetics*
  • Base Sequence
  • Carcinoma, Basal Cell / complications
  • Carcinoma, Basal Cell / genetics*
  • DNA Mutational Analysis
  • DNA Transposable Elements / genetics
  • DNA, Neoplasm / analysis
  • DNA, Neoplasm / genetics
  • Exons / genetics
  • Frameshift Mutation / genetics
  • Gene Deletion
  • Genes, Tumor Suppressor / genetics*
  • Heterozygote
  • Humans
  • Membrane Proteins / genetics*
  • Patched Receptors
  • Point Mutation / genetics
  • Polymorphism, Single-Stranded Conformational
  • Receptors, Cell Surface
  • Skin Neoplasms / complications
  • Skin Neoplasms / genetics*


  • DNA Transposable Elements
  • DNA, Neoplasm
  • Membrane Proteins
  • Patched Receptors
  • Receptors, Cell Surface