BRCA 1 and BRCA2 Mutations in African Americans
Abstract
The entire coding regions and flanking introns of BRCA1 and BRCA2 are being examined for germline mutations in African American breast cancer patients from 75 families at high-risk of hereditary breast cancer. This represents one of the largest such studies of high-risk African Americans. A novel BRCA1 pathogenic, protein truncating mutation has been identified in a multiple case family. Six pathogenic BRCA2 mutations have been identified, four of which have not been reported previously by other investigators. A BRCA2 missense variant of unknown functional significance was detected. Numerous polymorphisms and noncoding variants were observed in the BRCA1 and BRCA2 genes of high-risk African American patients. A large number of different pathogenic BRCA1 and BRCA2 mutations are observed in the African American population; most of these protein truncating mutations are not observed in other populations. The importance of this work is for genetic testing and genetic counseling.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 1999
- Accession Number
- ADB259064
Entities
People
- Carolyn W. Broome
Organizations
- Howard University