An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium

• Main Authors: Narod, S A, Ford, D, Devilee, P, Barkardottir, R B, Lynch, H T, Smith, S A, Ponder, B A, Weber, B L, Garber, J E, Birch, J M
• Other Authors: Department of Medicine, McGill University, Montreal, Quebec, Canada.
• Format: Article in Journal/Newspaper
• Language: English
• Published: University of Chicago Press 2011
• Subjects: Adult; Age of Onset; BRCA1 Protein; Breast Neoplasms; Male; Chromosomes; Human; Pair 17; Female; Genetic Heterogeneity; Genetic Predisposition to Disease; Humans; Iceland; Lod Score; Middle Aged; Neoplasm Proteins; Neoplasms; Multiple Primary; Neoplastic Syndromes; Hereditary; Netherlands; Ovarian Neoplasms; Pedigree; Transcription Factors
• Online Access: http://hdl.handle.net/2336/118669

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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 the 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.