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题目:: A screening for BRCA1 mutations in breast and breast-ovarian cancer families from the Stockholm region.
作者:: Zelada-Hedman(M),Wasteson Arver(B),Claro(A),Chen(J),Werelius(B),Kok(H),Sandelin(K),Håkansson(S),Andersen(T I),Borg(A),Børresen Dale(A L),Lindblom(A)
状态:: 发布时间1997-07-15 , 更新时间 2006-11-15
期刊:: Cancer Res
摘要:: To identify BRCA1 germ-line mutations in the breast and breast-ovarian cancer families in the Stockholm region, a total of 127 families were screened. DNA from 174 patients from these families were studied using various mutation screening techniques, followed by direct DNA sequencing. Mutations were identified in 7 of 20 families with breast and ovarian cancer and in one family with ovarian cancer only, whereas only 1 family of 106 with breast cancer showed a mutation. Thus, germ-line mutations in BRCA1 were found in one-third of the families with both breast and ovarian cancer, but in only 1% of the breast cancer families. The low frequency of germ-line mutations in the site-specific breast cancer families means that other genes are likely to segregate in these families.
语言:: eng
DOI:

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