title: Is hereditary site-specific ovarian cancer a distinct genetic condition?
abstract: 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.
authors.affiliation: The Centre for Research in Women's Health, University of Toronto, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Liede
authors.forename: P N
authors.initials: PN
authors.lastname: Tonin
authors.forename: C C
authors.initials: CC
authors.lastname: Sun
authors.forename: C
authors.initials: C
authors.lastname: Serruya
authors.forename: M B
authors.initials: MB
authors.lastname: Daly
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
authors.forename: W D
authors.initials: WD
authors.lastname: Foulkes
mesh_terms: D019313:BRCA1 Protein / Q000096:biosynthesis / Q000235:genetics; D001943:Breast Neoplasms / Q000235:genetics; D002170:Canada / Q000208:ethnology; D002277:Carcinoma / Q000235:genetics*; D004198:Disease Susceptibility; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D005838:Genotype; D018095:Germ-Line Mutation; D006801:Humans; D007585:Jews / Q000235:genetics; D008875:Middle Aged; D010051:Ovarian Neoplasms / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D019313:BRCA1 Protein