Article
Rapid detection of BRCA1 mutations by the protein truncation test.
Nature genetics - 1 Jun 1995
Hogervorst F B, Cornelis R S, Bout M, van Vliet M, Oosterwijk J C, Olmer R, Bakker B, Klijn J G, Vasen H F, Meijers-Heijboer H
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.