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

OnderzoeksoutputAcademicpeer review

276 Citaten (Scopus)

Samenvatting

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.

Originele taal-2English
Pagina's (van-tot)208-212
Aantal pagina's5
TijdschriftNature Genetics
Volume10
Nummer van het tijdschrift2
StatusPublished - jun-1995

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