BRCA1 and BRCA2 Mutations in African Americans

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 hi...

Full description

Saved in:
Bibliographic Details
Main Author: Broome, Carolyn W
Format: Report
Language:English
Subjects:
AFRICAN AMERICANS
Anatomy and Physiology
BRCA1
BRCA2
BREAST CANCER
CODING
DISEASES
GENETICS
HISTORY
MALES
MAMMARY GLANDS
Medicine and Medical Research
MUTATIONS
OVARIAN CANCER
OVARIES
PATIENTS
Personnel Management and Labor Relations
REGIONS
RISK
TEST AND EVALUATION
Online Access:Request full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.