Article
Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.
Journal of human genetics - 1 Mar 2017
Antonucci Ivana, Provenzano Martina, Sorino Luca, Balsamo Michela, Aceto Gitana Maria, Battista Pasquale, Euhus David, Cianchetti Ettore, Ballerini Patrizia, Natoli Clara, Palka Giandomenico, Stuppia Liborio
Abstract excerpt
During the past years, several empirical and statistical models have been developed to discriminate between carriers and non-carriers of germline BRCA1/BRCA2 (breast cancer 1, early onset/breast cancer 2, early onset) mutations in families with hereditary breast or ovarian cancer. Among these, the BRCAPRO or CaGene model is commonly used during genetic counseling, and plays a central role in the identification of...
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