IS HEREDITARY SITE-SPECIFIC OVARIAN-CANCER A DISTINCT GENETIC CONDITION

It is not clear if hereditary site-specific ovarian cancer exists as a genetic entity distinct from the hereditary breast-ovarian cancer syn drome, We have identified a large Ashkenazi Jewish kindred with 8 case s of ovarian carcinoma and no cases of breast cancer, Initially, linka ge analysis for this kindred generated a negative LOD score to BRCA1, but subsequent mutation and haplotype analysis of key individuals demo nstrated a BRCA1 185delAG mutation segregating with all but 1 of the o varian cancer cases. This observation has important implications for g enetic counselling of families with site-specific ovarian cancer, Here ditary site-specific ovarian cancer is likely to be a variant of the h ereditary breast-ovarian cancer syndrome, attributable to either BRCA1 or BRCA2. We consider women from these families to be at increased ri sk of breast cancer and counsel them accordingly. (C) 1998 Wiley-Liss, Inc.