A novel 23-bp deletion in exon 5 of the p53 tumor suppressor gene

J Mol Med (Berl). 1999 Sep;77(9):686-9. doi: 10.1007/s001099900043.


We report a novel p53 deletion in a 63-year-old female with breast cancer. Mutation screening of DNA samples, obtained from tumor specimens from 98 individuals with breast cancer, by a combined polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis showed that the index case had a somatic mutation identified to be a 23-bp deletion in exon 5 of the p53 gene. This deletion would be expected to yield a truncated and functionally inactive p53 protein molecule, probably resulting in cell transformation. The existence of 6-bp palindromic-like sequences encompassing the deleted fragment suggests that the slipped mispairing mechanism is not involved in producing the deletion, which probably resulted from palindromic pairing during replication.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Gene Deletion*
  • Genes, p53 / genetics*
  • Humans
  • Middle Aged
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Tumor Suppressor Protein p53 / genetics*
  • Tumor Suppressor Protein p53 / metabolism


  • Tumor Suppressor Protein p53