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A Screening for BRCA1 Mutations in Breast and Breast-Ovarian Cancer Families from the Stockholm Region¹

Departments of Clinical Genetics [M. Z-H., B. W. A., A. C., J. C., B. W., H. K., A. L.], Surgery [K. S.], and Molecular Medicine [A. L.], Karolinska Hospital, S-171 76 Stockholm, and Institute of Oncology, University Hospital, S-221 85 Lund [S. H., Å. B.], Sweden; and Department of Genetics, Institute for Cancer Research, The Norwegian Radium Hospital, N-0310 Oslo, Norway [T. I. A., A-L. B. D.]

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.

¹ This work was supported by The Swedish Cancer Society. The Gustav V Jubilee Fund, and The Bert von Kantzow's Foundation.

² To whom requests for reprints should be addressed, at Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden. Phone: 46-8-729 52 48; Fax: 46-8-32 77 34.

Received 9/23/96. Accepted 4/17/97.

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