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PMID: 24199689 已发表 · ppublish 英语

Preventing ovarian cancer through genetic testing: a population-based study.

Clinical genetics ·第 86 卷 ·第 5 期 ·2015-06-18

Finch A, Bacopulos S, Rosen B, Fan I, Bradley L, Risch H, McLaughlin J R, Lerner-Ellis J, Narod S A

摘要

Genetic testing for BRCA1 and BRCA2 gene mutations, in conjunction with preventive salpingo-oophorectomy for mutation carriers, may be used to prevent a proportion of invasive ovarian cancers ('personalized medicine'). We evaluated the potential utility of this approach at a population level by reviewing the pedigree information and genetic test results from 1342 ovarian cancer patients in Ontario. Of the 1342 patients tested, 176 patients had a BRCA1 or BRCA2 mutation; of these, 48 women would have qualified for testing prior to the development of cancer based on the eligibility criteria in place for the province of Ontario. In summary, 48 of 1342 unselected cases of ovarian cancer (3.6%) might have been prevented if genetic testing criteria were universally applied to all women in Ontario at risk for ovarian cancer.

关键词
BRCA1 BRCA2 ovarian cancer personalized medicine
文献信息
期刊
Clinical genetics
期刊简称
Clin Genet
发表日期
2015-06-18
收录日期
2014-10-17
更新日期
2014-10-17
语言
英语
国家/地区
Denmark
NLM ID
0253664
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