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Article

BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families.

Clinical genetics - 1 Nov 2012

Fischer C, Engel C, Sutter C, Zachariae S, Schmutzler R, Meindl A, Heidemann S, Grimm T, Goecke T O, Debatin I, Horn D, Wieacker P, Gadzicki D, Becker K, Schäfer D, Stock F, Voigtländer T

Abstract excerpt

In families with clustering of breast and ovarian cancer, molecular testing of the major susceptibility genes BRCA1/2 helps to identify patients with disease mutations and healthy persons at high risk who can participate in targeted intervention programs. We investigated 5559 families from the German Consortium for Hereditary Breast and Ovarian Cancer included between 1997 and 2008 and treated under clinical...

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Identifiers

PMID: 21919902
DOI: 10.1111/j.1399-0004.2011.01788.x

Genes

BRCA1

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