Article
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
Journal of medical genetics - 1 Jun 2013
Fischer Christine, Kuchenbäcker Karoline, Engel Christoph, Zachariae Silke, Rhiem Kerstin, Meindl Alfons, Rahner Nils, Dikow Nicola, Plendl Hansjörg, Debatin Irmgard, Grimm Tiemo, Gadzicki Dorothea, Flöttmann Ricarda, Horvath Judit, Schröck Evelin, Stock Friedrich, Schäfer Dieter, Schwaab Ira, Kartsonaki Christiana, Mavaddat Nasim, Schlegelberger Brigitte, Antoniou Antonis C, Schmutzler Rita
Abstract excerpt
BACKGROUND: Risk prediction models are widely used in clinical genetic counselling. Despite their frequent use, the genetic risk models BOADICEA, BRCAPRO, IBIS and extended Claus model (eCLAUS), used to estimate BRCA1/2 mutation carrier probabilities, have never been comparatively evaluated in a large sample from central Europe. Additionally, a novel version of BOADICEA that incorporates tumour pathology...
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