Validity of models for predicting BRCA1 and BRCA2 mutations.

ABSTRACT:

Background

Deleterious mutations of the BRCA1 and BRCA2 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 ac

SUBMITTER: Parmigiani G 

PROVIDER: S-EPMC2423214 | biostudies-literature | 2007 Oct

REPOSITORIES: biostudies-literature