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Validity of Models for Predicting <i>BRCA1</i> and <i>BRCA2</i> Mutations

Annals of Internal MedicinePublished 2 October 2007
Giovanni Parmigiani, Sining Chen, Edwin S. Iversen, Tara M. Friebel, Dianne M. Finkelstein, Hoda Anton-Culver
Citations124
SJR quartileQ1
SJR score3.38
SNIP3.27

TL;DR

The main goal was to measure how well these models discriminated between mutation carriers and noncarriers, which raises concerns about whether some models are more accurate than others and calls for a careful independent comparative evaluation of the predictive performance of existing models.

Abstract

All models identify women who probably carry a deleterious mutation of BRCA1 or BRCA2 with adequate discrimination to support individualized genetic counseling, although discrimination varies across models and populations.

Keywords

Biochemistry, Genetics and Molecular Biology