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Article

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

European journal of internal medicine - 1 Jul 2016

Azzollini Jacopo, Scuvera Giulietta, Bruno Eleonora, Pasanisi Patrizia, Zaffaroni Daniela, Calvello Mariarosaria, Pasini Barbara, Ripamonti Carla B, Colombo Mara, Pensotti Valeria, Radice Paolo, Peissel Bernard, Manoukian Siranoush

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hereditary Breast and Ovarian Cancer Syndrome

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Source

Identifiers

PMID: 27062684
DOI: 10.1016/j.ejim.2016.03.010

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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