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. 1995 Jan;56(1):254–264.

An Evaluation of Genetic Heterogeneity in 145 Breast-Ovarian Cancer Families

Steven A Narod, Deborah Ford, Peter Devilee, Rosa B Barkardottir, Henry T Lynch, Simon A Smith, Bruce A J Ponder, Barbara L Weber, Judy E Garber, Jill M Birch, Renee S Cornelis, David P Kelsell, Nigel K Spurr, Elizabeth Smyth, Neva Haites, Hagay Sobol, Yves-Jean Bignon, Jenny Chang-Claude, Ute Hamann, Annika Lindblom, Ake Borg, M Steven Piver, Holly H Gallion, Jeffrey P Struewing, Alice Whittemore, Patricia Tonin, David E Goldgar, Douglas F Easton
PMCID: PMC1801289  PMID: 7825586

Abstract

The breast-ovary cancer–family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17ql2-q21. The majority, but not all, of breast-ovary cancer families show linkage to this susceptibility locus, designated BRCA1. We report here the results of a linkage analysis of 145 families with both breast and ovarian cancer. These families contain either a total of three or more cases of early-onset (before age 60 years) breast cancer or ovarian cancer. All families contained at least one case of ovarian cancer. Overall, an estimated 76% of the 145 families are linked to the BRCA1 locus. None of 13 families with cases of male breast cancer appear to be linked, but it is estimated that 92% (95% confidence interval 76%–100%) of families with no male breast cancer and with two or more ovarian cancers are linked to BRCA1. These data suggest that the breast-ovarian cancer–family syndrome is genetically heterogeneous. However, the large majority of families with early-onset breast cancer and with two or more cases of ovarian cancer are likely to be due to BRCA1 mutations.

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Selected References

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