In total 138 eligible women were identified, 73 women with known BRCA1 mutations and a history of breast cancer (affected), 3 affected BRCA1 negative, 6 affected Jewish panel negative (185delAG, 5382insC), 48 women with known BRCA1 mutations and no history of breast cancer (unaffected) and 8 women negative for the mutation found in the family member (true negative), for a total of 56 unaffected subjects. This evidence concerns the gene BRCA1 and breast carcinoma.