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

Journal Article · Sat Dec 31 23:00:00 EST 1994 · American Journal of Human Genetics

OSTI ID:70391

Narod, S A ^[1]; Ford, D ^[2]; Devilee, P ^[3]; Barkardottir, R B ^[4]; Lynch, H T ^[5]; Smith, S A; Ponder, B A.J. ^[6]; Weber, B L ^[7]; Garber, J E ^[8]; Birch, J M ^[9]

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1. McGill Univ., Montreal (Canada)
2. Institute of Cancer Research, Surrey (United Kingdom)
3. Univ. of Leiden (United Kingdom)
4. University Hospital of Iceland, Reykjavik (Iceland)
5. Creighton Univ. School of Medicine, Omaha, NE (United States)
6. Univ. of Cambridge (United Kingdom)
7. Univ. of Michigan School of Medicine, Ann Arbor, MI (United States)
8. Dana Farber Cancer Institute, Boston, MA (United States)
9. Univ. of Manchester (United Kingdom); and others

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 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. 39 refs., 6 figs., 3 tabs.

• OSTI ID: 70391
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 1 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
DOMINANT MUTATIONS
GENE MUTATIONS
GENES
GENETIC MAPPING
HUMAN CHROMOSOME 17
MAMMARY GLANDS
NEOPLASMS
OVARIES
PATIENTS
STATISTICS