An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families

S. A. Narod, D. Ford, P. Devilee, R. B. Barkardottir, H. T. Lynch, S. A. Smith, B. A.J. Ponder, B. L. Weber, J. E. Garber, J. M. Birch, R. S. Cornelis, D. P. Kelsell, N. K. Spurr, E. Smyth, N. Haites, H. Sobol, Y. J. Bignon, J. Chang-Claude, U. Hamann

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269 Scopus citations


The breast-ovary cancer-family syndrome is a dominant predisposition to cancer of the breast and ovaries which has been mapped to chromosome region 17q12-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.

Original languageEnglish (US)
Pages (from-to)254-264
Number of pages11
JournalAmerican journal of human genetics
Issue number1
StatePublished - 1995
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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