title: An evaluation of genetic heterogeneity in 145 breast-ovarian cancer families. Breast Cancer Linkage Consortium.
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 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.
authors: Department of Medicine, McGill University, Montreal, Quebec, Canada.
authors: S A
authors: SA
authors: Narod
authors: D
authors: D
authors: Ford
authors: P
authors: P
authors: Devilee
authors: R B
authors: RB
authors: Barkardottir
authors: H T
authors: HT
authors: Lynch
authors: S A
authors: SA
authors: Smith
authors: B A
authors: BA
authors: Ponder
authors: B L
authors: BL
authors: Weber
authors: J E
authors: JE
authors: Garber
authors: J M
authors: JM
authors: Birch
mesh_terms: D000328:Adult; D017668:Age of Onset; D019313:BRCA1 Protein; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D018567:Breast Neoplasms, Male / Q000453:epidemiology / Q000235:genetics; D002886:Chromosomes, Human, Pair 17; D005260:Female; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease; D006801:Humans; D007055:Iceland / Q000453:epidemiology; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D009378:Neoplasms, Multiple Primary / Q000453:epidemiology / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics*; D009426:Netherlands / Q000453:epidemiology; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D019313:BRCA1 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors