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Related Experiment Videos

p53 mutations in basal cell carcinomas.

P Rady1, F Scinicariello, R F Wagner

  • 1Department of Microbiology, University of Texas Medical Branch, Galveston 77555-1019.

Cancer Research
|July 11, 1992
PubMed
Summary
This summary is machine-generated.

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Basal cell carcinoma (BCC) biopsies revealed mutations in the p53 gene in 50% of cases. These mutations, primarily G:C-A:T transitions at CpG hotspots, suggest ultraviolet radiation may specifically target the p53 gene in skin cancer development.

Area of Science:

  • Oncology
  • Genetics
  • Dermatology

Background:

  • Basal cell carcinoma (BCC) is the most common form of skin cancer.
  • The p53 tumor suppressor gene plays a critical role in preventing cancer.
  • Mutations in the p53 gene are frequently observed in various cancers, but their specific role in BCC pathogenesis is under investigation.

Purpose of the Study:

  • To investigate the frequency and spectrum of p53 gene mutations in basal cell carcinoma (BCC) biopsies.
  • To determine if specific mutation types or locations are prevalent in BCC.
  • To explore the potential link between ultraviolet (UV) radiation and p53 mutations in BCC.

Main Methods:

  • Genomic DNA was extracted from 14 BCC tissue samples.
  • Polymerase chain reaction (PCR) was employed to amplify specific regions of the p53 gene.

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  • Direct DNA sequencing was used to identify mutations within the amplified p53 gene sequences.

    • Main Results:

    • Heterozygous mutations in the p53 gene were identified in 7 out of 14 (50%) BCC samples.
    • All detected mutations were G:C to A:T transitions.
    • Five of these mutations (71%) occurred at CpG dinucleotides, known mutation hotspots, specifically at codons 248 (three mutations) and 273 (two mutations).

    Conclusions:

    • The high frequency of G:C-A:T transitions at CpG sites in the p53 gene of BCC samples is noteworthy.
    • The observed mutation pattern closely resembles those induced by UV radiation in experimental studies.
    • These findings support the hypothesis that UV radiation may play a carcinogenic-specific role by directly inducing mutations in the p53 gene in the development of basal cell carcinoma.