Journal
BREAST CANCER RESEARCH AND TREATMENT
Volume 116, Issue 2, Pages 379-386Publisher
SPRINGER
DOI: 10.1007/s10549-008-0153-8
Keywords
Biospecimen repository; Breast cancer; BRCA1; BRCA2
Categories
Funding
- National Cancer Institute
- National Institutes of Health [CA-95-011]
- Breast Cancer Family Registry and Principal Investigators [U01 CA69467]
- Columbia University [U01 CA69398]
- Fox Chase Cancer Center [U01 CA69631]
- Huntsman Cancer Institute [U01 CA69446]
- Northern California Cancer Center [U01 CA69417]
- University of Melbourne [U01 CA69638]
- Research Triangle Institute Informatics Support Center [RFP N02PC45022-46]
- National Health and Medical Research Council (NHMRC)
- Victorian Breast Cancer Research Consortium (VBCRC)
- Ovarian Cancer SPORE [P50 CA83638]
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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.
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