✦ LIBER ✦

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

✍ Scribed by Liede, Alexander; Tonin, Patricia N.; Sun, Chia Chia; Serruya, Corinne; Daly, Mary B.; Narod, Steven A.; Foulkes, William D.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 14 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980106)75:1<55::aid-ajmg12>3.0.co;2-r

No coin nor oath required. For personal study only.

✦ Synopsis

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 breastovarian 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. Am.

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