RAPID DETECTION OF BRCA1 MUTATIONS BY THE PROTEIN TRUNCATION TEST

FBL Hogervorst, RS Cornelis, M Bout, M van Vliet, JC Oosterwijk, R Olmer, B Bakker, JGM Klijn, HFA Vasen, H Meijers Heijboer, FH Menko, CJ Cornelisse, JT den Dunnen, P Devilee, GJB van Ommen

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Abstract

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.

Original languageEnglish
Pages (from-to)208-212
Number of pages5
JournalNature Genetics
Volume10
Issue number2
Publication statusPublished - Jun-1995

Keywords

  • FAMILIAL BREAST
  • LINKAGE
  • CANCER

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