Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study

Published: 6 April 2016
Author(s): Jacopo Azzollini, Giulietta Scuvera, Eleonora Bruno, Patrizia Pasanisi, Daniela Zaffaroni, Mariarosaria Calvello, Barbara Pasini, Carla B. Ripamonti, Mara Colombo, Valeria Pensotti, Paolo Radice, Bernard Peissel, Siranoush Manoukian
Issue: April 2016
Section: Original Article

BRCA mutation screening is frequently offered on the basis of the fulfillment of empirical selection criteria, thought to be indicative of a genetic predisposition to breast/ovarian cancer (BrCa/OvCa). This study aimed to evaluate, in a large cohort of BrCa/OvCa families, the mutation detection rate (DR) associated with specific clinical features and the relative performance of the employed selection criteria.