Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21

Am J Hum Genet. 1994 Nov;55(5):870-5.

Abstract

In a study of nine families with "site-specific" ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age < 50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32-1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46-1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein
  • Chromosomes, Human, Pair 17*
  • Female
  • Genetic Linkage*
  • Haplotypes
  • Humans
  • Lod Score
  • Neoplasm Proteins / genetics*
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Transcription Factors / genetics*

Substances

  • BRCA1 Protein
  • Neoplasm Proteins
  • Transcription Factors