An intronic deletion in TP53 gene causes exon 6 skipping in breast cancer

Eur J Cancer. 1997 Aug;33(9):1479-83. doi: 10.1016/s0959-8049(97)00136-6.

Abstract

Six hundred and thirty primary breast cancer were screened for abnormalities in exons 5, 6, 7 and 8 of the TP53 tumour suppressor gene. Analysis of the structure of the TP53 gene exons was performed with the polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) method and with direct sequencing of amplified DNA. In a breast tumour case from a postmenopausal patient, we found a deletion of 36 bp in intron 5 and no immunohistochemical staining for p53. We amplified and sequenced the cDNA region between exons 4 and 7 and showed that the deletion causes the skipping of exon 6. The resulting mRNA sequence had a frameshift that yields an inactive protein with a truncated C terminus. These results show the first example of intronic deletion causing exon skipping at the TP53 gene level.

MeSH terms

  • Base Sequence
  • Breast Neoplasms / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • Electrophoresis, Agar Gel
  • Exons / genetics*
  • Female
  • Gene Deletion*
  • Genes, p53*
  • Humans
  • Introns / genetics*
  • Molecular Sequence Data

Substances

  • DNA, Neoplasm