title: Preventing ovarian cancer through genetic testing: a population-based study.
abstract: 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.
authors.affiliation: Women's College Research Institute, University of Toronto, Toronto, ON, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Finch
authors.forename: S
authors.initials: S
authors.lastname: Bacopulos
authors.forename: B
authors.initials: B
authors.lastname: Rosen
authors.forename: I
authors.initials: I
authors.lastname: Fan
authors.forename: L
authors.initials: L
authors.lastname: Bradley
authors.forename: H
authors.initials: H
authors.lastname: Risch
authors.forename: J R
authors.initials: JR
authors.lastname: McLaughlin
authors.forename: J
authors.initials: J
authors.lastname: Lerner-Ellis
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods*; D005828:Genetics, Population; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000517:prevention & control*; D012307:Risk Factors; D055815:Young Adult
keywords: BRCA1; BRCA2; ovarian cancer; personalized medicine