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Liede A , Tonin PN , Sun CC , Serruya C , Daly MB , Narod SA , Foulkes WD
Is hereditary site-specific ovarian cancer a distinct genetic condition?
American Journal of Medical Genetics. 1998 Jan 6;75(1) :55-58
PMID: ISI:000071322300012   
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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. (C) 1998 Wiley- Liss, Inc.
Times Cited: 9 English Article YP852 AMER J MED GENET