Neuhausen Susan L, Ozcelik Hilmi, Southey Melissa C, John Esther M, Godwin Andrew K, Chung Wendy, Iriondo-Perez Jeniffer, Miron Alexander, Santella Regina M, Whittemore Alice, Andrulis Irene L, Buys Saundra S, Daly Mary B, Hopper John L, Seminara Daniela, Senie Ruby T, Terry Mary Beth
Department of Epidemiology, University of California Irvine, Irvine, CA 92697-7550, USA.
Breast Cancer Res Treat. 2009 Jul;116(2):379-86. doi: 10.1007/s10549-008-0153-8. Epub 2008 Aug 14.
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.
乳腺癌家族登记处是一个用于乳腺癌遗传流行病学跨学科和转化研究的资源库。该资源可供全球研究人员进行合作研究。在此，我们报告了BRCA1和BRCA2种系突变的检测结果。我们对4531名先证者进行了BRCA1突变检测，对4084名先证者进行了BRCA2突变检测。在检测的先证者中，9.8%的人被鉴定出BRCA1和BRCA2存在有害突变[BRCA1为233/4531（5.1%），BRCA2为193/4084（4.7%）]。在仅检测三种常见突变的1385名阿什肯纳兹犹太女性中，17.4%携带有害突变。通过先证者及后续家族检测，总共已鉴定出1360名女性突变携带者（BRCA1中有788名，BRCA2中有566名，BRCA1和BRCA2中均有的有6名）。通过确定近6000名先证者的种系BRCA1和BRCA2突变状态，该资源的价值得到了极大提升。
