Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.
Elisabeth Steichen‐Gersdorfa, Holly H. Gallion, Deborah Ford, C. Girodet, D.F. Easton, Richard A. DiCioccio, D. Gareth Evans, Margaret A. Ponder, Clare Pye, Sylvie Mazoyer
- aDepartment of Pathology, University of Cambridge
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Abstract
In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive.