Liede A, Tonin P N, Sun C C, Serruya C, Daly M B, Narod S A, Foulkes W D
The Centre for Research in Women's Health, University of Toronto, Ontario, Canada.
Am J Med Genet. 1998 Jan 6;75(1):55-8. doi: 10.1002/(sici)1096-8628(19980106)75:1<55::aid-ajmg12>3.0.co;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.
