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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

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

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 ...

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