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

S. A. Narod, D. Ford, P. Devilee, R. B. Barkardottir, Henry 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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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 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
Pages (from-to)254-264
Number of pages11
JournalAmerican Journal of Human Genetics
Volume56
Issue number1
Publication statusPublished - 1995
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Genetics

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Narod, S. A., Ford, D., Devilee, P., Barkardottir, R. B., Lynch, H. T., Smith, S. A., ... Hamann, U. (1995). An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. American Journal of Human Genetics, 56(1), 254-264.