BRCA1 and BRCA2 Mutations in African Americans
Abstract
In order to determine the spectrum of germline BRCAl and BRCA2 mutations in African Americans, the entire coding regions and flanking introns are being examined in breast cancer patients from 80 families at high-risk of hereditary breast cancer. This study represents one of the largest studies of high-risk African Americans. One deleterious BRCAl mutation and eight pathogenic BRCA2 mutations have been identified. The BRCAl mutation and 38% of the BRCA2 mutations are unique to African Americans. Two BRCA2 mutations were observed in male breast cancer patients. All of the female breast or ovarian cancer probands with BRCA2 mutations were diagnosed before the age of 45. The importance of this work is for genetic testing and counseling. Sixty-four percent of African American BRCAl and BRCA2 cases have at least one affected first degree relative. It is noteworthy that 36% of BRCA mutations were detected in individuals without a reported history of disease, among early onset (%<4O years) breast cancer patients, male breast cancer patients, and a patient with both breast and ovarian cancers. Because of the numerous, distinct pathogenic BRCA mutations in African Americans, genetic testing for BRCA mutations needs to involve the entire coding and flanking sequences in high-risk patients.
Document Details
- Document Type
- Technical Report
- Publication Date
- Oct 01, 2000
- Accession Number
- ADB266141
Entities
People
- Carolyn W. Broome
Organizations
- Howard University