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Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer

Kast, K. ; Rhiem, K. ; Wappenschmidt, B. ; Hahnen, E. ; Hauke, J. ; Bluemcke, B. ; Zarghooni, V. ; Herold, N. ; Ditsch, N. ; Kiechle, M. ; Braun, M. ; Fischer, C. ; Dikow, N. ; Schott, S. ; Rahner, N. ; Niederacher, D. ; Fehm, T. ; Gehrig, A. ; Mueller-Reible, C. ; Arnold, N. ; Maass, N. ; Borck, G. ; de Gregorio, N. ; Scholz, C. ; Auber, B. ; Varon-Manteeva, R. ; Speiser, D. ; Horvath, J. ; Lichey, N. ; Wimberger, P. ; Stark, S. ; Faust, U. ; Weber, Bernhard H. F. ; Emons, G. ; Zachariae, S. ; Meindl, A. ; Schmutzler, R. K. ; Engel, C. ; German Consortium for Hereditary Breast and Ovarian Cancer, (GC-HBOC)



Abstract

Purpose To characterise the prevalence of pathogenic germline mutations in BRCA1 and BRCA2 in families with breast cancer (BC) and ovarian cancer (OC) history. Patients and methods Data from 21 401 families were gathered between 1996 and 2014 in a clinical setting in the German Consortium for Hereditary Breast and Ovarian Cancer, comprising full pedigrees with cancer status of all individual ...

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