Researchers study familial and early onset breast cancer in African Americans.

2004 FEB 5 - (NewsRx.com & NewsRx.net) -- In order to identify the spectrum of BRCA2 mutations in African Americans, researchers investigated breast or ovarian cancer patients from 74 independent families at elevated risk of germline mutations.

According to recent research from the United States, "The entire coding regions and flanking introns of BRCA2 were screened for germline mutations by single-stranded conformation polymorphism, protein truncation test, or denaturing high performance liquid chromatography followed by DNA sequencing.

"Eight distinct protein-truncating mutations were detected in 6 female patients (average age of onset of breast cancer: 37.6 years) and 2 male patients, but not in 163 unrelated disease-free controls. Two (1993delAA, 8643delAT) of the 8 pathogenic mutations observed in African Americans have not been previously described. The other 6 pathogenic mutations (1882delT, 1991delATAA, 2001delTTAT, 2816insA, 4075delGT, 4088delA) have been detected in Caucasians; only the 2816insA mutation has been reported previously in African Americans," wrote Y. Kanaan and colleagues, Howard University College of Medicine.

"There were no significant differences in the frequency of deleterious BRCA2 mutations in African Americans compared with Caucasians. Six rare variations, not previously reported, were identified in 5 breast cancer patients but not in 163 disease-free ...