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 w...
Topics
- BRCA1 Protein
- Breast Neoplasms
- DNA
- DNA Mutational Analysis
- Exons
- Female
- Genetic Linkage
- Haplotypes
- Humans
- Middle Aged
- Mutation
- Neoplasm Proteins
- Ovarian Neoplasms
- Protein Conformation
- RNA Splicing
- Transcription Factors