BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
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DOI：
10.1007/s10549-008-0153-8
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发表时间：
2009-07
影响因子：
3.8
通讯作者：
Terry, Mary Beth
中科院分区：
文献类型：
--
作者：
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
乳腺癌家族登记是乳腺癌遗传流行病学的跨学科和转化研究的资源。该资源可供世界各地的研究人员进行合作研究。在此，我们报告了BRCA 1和BRCA 2生殖系突变的检测结果。我们检测了4,531名先证者的BRCA 1突变和4,084名BRCA 2突变。在9.8%的先证者中发现了BRCA 1和BRCA 2的有害突变[BRCA 1为233/4,531（5.1%），BRCA 2为193/4,084（4.7%）]。在1,385名德系犹太妇女中，只有17.4%的人携带了有害的突变。总的来说，从先证者和随后的家庭测试中，已确定了1，360名女性突变携带者（788名BRCA 1，566名BRCA 2，6名BRCA 1和BRCA 2）。通过确定近6,000名先证者的生殖系BRCA 1和BRCA 2突变状态，资源的价值得到了极大的提高。
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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影响因子：
9.8
作者：
Easton, Douglas F.;Deffenbaugh, Amie M.;Goldgar, David E.
通讯作者：
Goldgar, David E.
影响因子：
120.7
作者：
Walsh, T;Casadei, S;King, MC
通讯作者：
King, MC
影响因子：
9.8
作者：
Goldgar, DE;Easton, DF;Couch, FJ
通讯作者：
Couch, FJ
影响因子：
3.9
作者：
Andrulis, IL;Anton-Culver, H;Whittemore, AS
通讯作者：
Whittemore, AS
影响因子：
4
作者：
Abkevich, V;Zharkikh, A;Tavtigian, SV
通讯作者：
Tavtigian, SV