Rapid detection of BRCA1 mutations by the protein truncation test

Nat Genet. 1995 Jun;10(2):208-12. doi: 10.1038/ng0695-208.


More than 75% of the reported mutations in the hereditary breast and ovarian cancer gene, BRCA1, result in truncated proteins. We have used the protein truncation test (PTT) to screen for mutations in exon 11, which encodes 61% of BRCA1. In 45 patients from breast and/or ovarian cancer families we found six novel mutations: two single nucleotide insertions, three small deletions (1-5 bp) and a nonsense mutation identified two unrelated families. Furthermore, we were able to amplify the remaining coding region by RT-PCR using lymphocyte RNA. Combined with PTT, we detected aberrantly spliced products affecting exons 5 and 6 in one of two BRCA1-linked families examined. The protein truncation test promises to become a valuable technique in detecting BRCA1 mutations.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein
  • Breast Neoplasms / genetics*
  • DNA / analysis
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genetic Linkage
  • Haplotypes
  • Humans
  • Middle Aged
  • Mutation*
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Protein Conformation
  • RNA Splicing
  • Transcription Factors / genetics*


  • BRCA1 Protein
  • Neoplasm Proteins
  • Transcription Factors
  • DNA