| We developed an efficient high throughput system to sequence the entire BRCA1 coding region for 157 African American women from 87 families with a history of breast or breast and ovarian cancer. Eighteen sequence variants were identified, including 14 missense and four silent mutations. Seven of the 18 variants were relatively common (allele frequency 15% or greater), and the remaining were rare (allele frequency less than 5%). Of the 18 variants, 14 showed no statistically significant difference in allele frequencies between cases and non-cases. Four variants occurred in only cases, three occurred once and one (G2196A, Asp693Asn) occurred in seven cases. A total of 97% cases and 91% non-cases had one or more variants. All variants identified in this study were previously described in the BIC database among white women. |
