| Abstract: | The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology
of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results
of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested 233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi
Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband
and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands. |
