p53 gene mutations in human skin cancers and precancerous lesions: comparison with immunohistochemical analysis

J Invest Dermatol. 1994 Apr;102(4):440-4. doi: 10.1111/1523-1747.ep12373002.


Mutations of exons 3 through 9 of the p53 gene in skin lesions were screened in 23 cases of squamous cell carcinoma (SCC), 25 cases of basal cell carcinoma (BCC), two cases of Bowen's disease, 10 cases of solar keratosis, and five cases of keratoacanthoma by polymerase chain reaction--single strand conformation polymorphism analysis. Mutations of the p53 gene were detected in seven of 23 SCCs (30%), three of 25 BCCs (12%), and none in all cases of Bowen's disease, solar keratosis, or keratoacanthoma. Of 23 cases of SCC, mutations were detected in four of 15 SCCs (27%) that originated in the sunlight-exposed skin region, in two of three SCCs (67%) that originated in the scar tissue, and in one of three SCCs (33%) that originated in radiation dermatitis. Mutations of C-->T transition predominated in SCC and BCC that originated in the sunlight-exposed skin region. Mutations of C-->A or CC-->AT observed in tumors that originated in the predisposed conditions, presumably unrelated to UV light, are different from those found in UV light-related SCC or BCC. Twelve cases of SCC were comparatively analyzed with the immunohistochemical staining with anti-p53 antibody. Two of four cases with positive staining had missense mutations, and three of eight cases with negative staining had nonsense mutations. Based on these findings, immunohistochemical results do not necessarily mean the presence or absence of p53 gene mutations in skin tumors, and sequence analysis is essential for determining whether the gene is mutated.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • Base Sequence
  • Carcinoma, Basal Cell / chemistry
  • Carcinoma, Basal Cell / genetics*
  • Carcinoma, Squamous Cell / chemistry
  • Carcinoma, Squamous Cell / genetics*
  • DNA, Single-Stranded / genetics
  • Exons
  • Female
  • Genes, p53 / genetics*
  • Humans
  • Immunohistochemistry
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Nucleic Acid Conformation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Precancerous Conditions / chemistry
  • Precancerous Conditions / genetics*
  • Sequence Analysis
  • Skin Neoplasms / chemistry
  • Skin Neoplasms / genetics*
  • Tumor Suppressor Protein p53 / analysis


  • DNA, Single-Stranded
  • Tumor Suppressor Protein p53