Clinical Genetics · 2013 · 26 citations · 6 references
Public HealthGeneticsGynecologyCancer ControlCancer PreventionCancer ScreeningGenetic Risk AssessmentGermline Cancer PredispositionGermline Cancer SusceptibilityMutation ScreeningOvarian CancerPopulation-based Cancer ControlBrca MutationsBrca2 Mutation TestingCancer Screening StrategiesGenetic TestingMutationOvarian Cancer DetectionOvarian Cancer ScreeningPedigree Information
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.
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Shiyu Zhang, Robert E. Royer, Song Li et al. · Gynecologic Oncology · 2011 · 419 citations
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
Elise Ruark, Katie Snape, Peter Humburg et al. · Nature · 2012 · 257 citations · Full text