Identification and Genetic Mapping of Genes for Hereditary Breast and Ovarian Cancer in Families Linked to BRCA1
Abstract
We have continued to screen for BRCA2 mutations in our high-risk breast cancer kindreds and now have identified 10 deleterious mutations, 5 missense mutations of unknown significance and 3 polymorphisms. Our collaborator has screened an additional 150 families and identified 8 deleterious mutations and 1 missense mutation of unknown significance. There are an additional five families which are clearly linked to BRCA2 for which no mutations have been identified. We have begun to examine cases in those families for large deletions and/or rearrangements by probing Southern blots with 14 probes spaced within BRCA2.
Document Details
- Document Type
- Technical Report
- Publication Date
- Sep 01, 1997
- Accession Number
- ADB233397
Entities
People
- Susan L. Neuhausen
Organizations
- University of Utah