Activated oncogenes in human skin tumors from a repair-deficient syndrome, xeroderma pigmentosum

Cancer Res. 1989 Mar 1;49(5):1223-8.

Abstract

The recessive autosomal hereditary disease, xeroderma pigmentosum (XP), is characterized by a high incidence of tumors in sun-exposed skin. The defect in early steps of excision repair of XP cells leads to hypermutability towards UV-mimicking agents. DNA from eight XP tumors were screened for activated transforming genes using 3T3 transfection. In two skin tumors isolated from a XP child, an activated N-ras oncogene was detected. Synthetic oligonucleotide probes were used to characterize the mutation in the ras gene. Both tumors were found to be mutated in the 61st N-ras codon from gln to his. The mutation was accompanied by an increase in the level of N-ras specific mRNA and in one transformant, by the alteration of the p21 protein. In the same tumors, c-myc amplification and over transcription, and Ha-ras gene rearrangement and amplification were also detected. Analysis of other XP tumors with eleven different oncogene probes revealed an amplification of the Ha-ras gene in 6 out of 10 cases. The normal skin fibroblasts from XP patients show normal pattern levels of N-ras, c-myc and Ha-ras sequences. The hypothesis is proposed that the presence of several oncogene alterations in the same tumor could be due to the high amount of UV-induced DNA lesions found in the exposed skin cells, in the absence of efficient repair.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / analysis
  • DNA Repair*
  • Gene Amplification
  • Gene Expression Regulation
  • Humans
  • Nucleic Acid Hybridization
  • Proto-Oncogene Proteins / analysis
  • Proto-Oncogene Proteins p21(ras)
  • Proto-Oncogenes*
  • Skin Neoplasms / genetics*
  • Transcription, Genetic
  • Xeroderma Pigmentosum / genetics*

Substances

  • Proto-Oncogene Proteins
  • DNA
  • HRAS protein, human
  • Proto-Oncogene Proteins p21(ras)