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

Autor:	A, Liede, P N, Tonin, C C, Sun, C, Serruya, M B, Daly, S A, Narod, W D, Foulkes
Rok vydání:	1998
Předmět:	Ovarian Neoplasms Canada Genotype BRCA1 Protein Carcinoma Breast Neoplasms Syndrome Middle Aged Pedigree Gene Expression Regulation Neoplastic Phenotype Jews Humans Female Disease Susceptibility Germ-Line Mutation
Zdroj:	American journal of medical genetics. 75(1)
ISSN:	0148-7299
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::fd0250e390a1d48aa1382b4b0414c9be https://pubmed.ncbi.nlm.nih.gov/9450858 Zobrazit plný text záznamu Plný text