Is hereditary site-specific ovarian cancer a distinct genetic condition?

Am J Med Genet. 1998 Jan 6;75(1):55-8. doi: 10.1002/(sici)1096-8628(19980106)75:1<55::aid-ajmg12>;2-r.


It is not clear if hereditary site-specific ovarian cancer exists as a genetic entity distinct from the hereditary breast-ovarian cancer syndrome. We have identified a large Ashkenazi Jewish kindred with 8 cases of ovarian carcinoma and no cases of breast cancer. Initially, linkage analysis for this kindred generated a negative LOD score to BRCA1, but subsequent mutation and haplotype analysis of key individuals demonstrated a BRCA1 185delAG mutation segregating with all but 1 of the ovarian cancer cases. This observation has important implications for genetic counselling of families with site-specific ovarian cancer. Hereditary site-specific ovarian cancer is likely to be a variant of the hereditary breast-ovarian cancer syndrome, attributable to either BRCA1 or BRCA2. We consider women from these families to be at increased risk of breast cancer and counsel them accordingly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • BRCA1 Protein / biosynthesis
  • BRCA1 Protein / genetics
  • Breast Neoplasms / genetics
  • Canada / ethnology
  • Carcinoma / genetics*
  • Disease Susceptibility
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genotype
  • Germ-Line Mutation
  • Humans
  • Jews / genetics
  • Middle Aged
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Phenotype
  • Syndrome


  • BRCA1 Protein