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Abstract
genes confer susceptibility to breast and ovarian cancer. At least 7 models for estimating the probabilities of having a mutation are used widely in clinical and scientific activities; however, the merits and limitations of these models are not fully understood. Objective: To systematically quantify the accuracy of the following publicly available models to predict mutation carrier status: BRCAPRO, family history assessment tool, Finnish, Myriad, National Cancer Institute, University of Pennsylvania, and Yale University. Design: Cross-sectional validation study, using model predictions and BRCA1 or BRCA2 mutation status of patients different from those used to develop the models. Setting: Multicenter study across Cancer Genetics Network partic-ipating centers. Patients: 3 population-based samples of participants in research studies and 8 samples from genetic counseling clinics.
Keyphrases
brca2 mutation status national cancer institute ovarian cancer cross-sectional validation study available model yale university research study family history assessment tool mutation carrier status genetic counseling clinic multicenter study population-based sample scientific activity model prediction cancer genetics network partic-ipating center
