Article
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer.
Cancer medicine - 1 Apr 2018
Hauke Jan, Horvath Judit, Groß Eva, Gehrig Andrea, Honisch Ellen, Hackmann Karl, Schmidt Gunnar, Arnold Norbert, Faust Ulrike, Sutter Christian, Hentschel Julia, Wang-Gohrke Shan, Smogavec Mateja, Weber Bernhard H F, Weber-Lassalle Nana, Weber-Lassalle Konstantin, Borde Julika, Ernst Corinna, Altmüller Janine, Volk Alexander E, Thiele Holger, Hübbel Verena, Nürnberg Peter, Keupp Katharina, Versmold Beatrix, Pohl Esther, Kubisch Christian, Grill Sabine, Paul Victoria, Herold Natalie, Lichey Nadine, Rhiem Kerstin, Ditsch Nina, Ruckert Christian, Wappenschmidt Barbara, Auber Bernd, Rump Andreas, Niederacher Dieter, Haaf Thomas, Ramser Juliane, Dworniczak Bernd, Engel Christoph, Meindl Alfons, Schmutzler Rita K, Hahnen Eric
Abstract excerpt
The prevalence of germ line mutations in non-BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC predisposition and pathogenesis is conflicting. In this study, 5589 consecutive BC index patients negative for pathogenic BRCA1/2 mutations and 2189 female controls were screened for germ line mutations in eight cancer predisposition genes (ATM, CDH1, CHEK2,...
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