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Journal Article
Bluemcke, B., Baasner, A., Hauke, J., Wappenschmidt, B., Hahnen, E. and Schmutzler, R. (2014). First experiences with the GS Junior 454 in molecular genetic analysis of patients with hereditary breast and ovarian cancer at the Center of Familial Breast and Ovarian Cancer, Cologne. Oncol. Res. Treat., 37. S. 22 - 23. BASEL: KARGER. ISSN 2296-5262
Bluemcke, B., Keupp, K., Larsen, M., Baasner, A., Waha, A., Versmold, B., Driesen, J., Buelow, L., Ernst, C., Wappenschmidt, B., Hahnen, E. and Schmutzler, R. (2018). NGS-based detection of copy number variations in hereditary breast- and ovarian cancer germline diagnostics. Eur. J. Hum. Genet., 26. S. 536 - 538. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Buelow, L., Keupp, K., Richters, L., Pohl, E., Wappenschmidt, B., Zarghooni, V., Reichstein-Gnielinski, S., Maringa, M., Giesecke, J., Rhiem, K., Hahnen, E. and Schmutzler, R. (2017). Low-level gonosomal mosaicism of a de novo BRCA1 gene mutation - The origin of a constitutional mutation in a breast cancer family. Cancer Res., 77. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445
Hauke, J., Becker, A., Schnurbein, G., Neidhardt, G., Weber-Lassalle, N., Wappenschmidt, B., Hahnen, E., Meindl, A. and Schmutzler, R. (2014). RAD51C deletion screening identifies a recurrent gross deletion in breast and ovarian cancer families. Oncol. Res. Treat., 37. S. 96 - 97. BASEL: KARGER. ISSN 2296-5262
Herold, N., Bredow, K., Hahnen, E., Wappenschmidt, B., Hauke, J., Wiedemann, R., Waha, A., Bluemcke, B., Pohl-Rescigno, E., Portnicki, M., Rhiem, K. and Schmutzler, R. (2020). Implementation of an educational program and risk-adjusted prevention program for breast and ovarian cancer of the German Consortium for Hereditary Breast- and Ovarian Cancer. Geburtshilfe Frauenheilkd., 80 (6). S. E37 - 2. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804
Herold, N., Bredow, K., Hahnen, E., Wappenschmidt, B., Hauke, J., Wiedemann, R., Waha, A., Bluemcke, B., Portnicki, M., Pohl-Rescigno, E., Rhiem, K., Kast, K., Huebbel, V, Maringa, M., Crombach, G. and Schmutzler, R. (2020). Knowledge-generating Care using the Example of hereditary Breast- and Ovarian Cancer (BC/OC): Evaluation of the comprehensive Care Concept. Geburtshilfe Frauenheilkd., 80 (10). S. E212 - 2. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1438-8804
Herold, N., Lichenheldt, F., Hillebrand, V., Wappenschmidt, B., Hahnen, E., Rhiem, K. and Schmutzler, R. K. (2018). Evaluation of prophylactic mastectomy and breast reconstruction in female BRCA1/2 mutation carriers. Oncol. Res. Treat., 41. S. 41 - 42. BASEL: KARGER. ISSN 2296-5262
Keupp, K., Ernst, C., Bluemcke, B., Versmold, B., Waha, A., Driesen, J., Baasner, A., Larsen, M., Buelow, L., Kroeber, S., Altmueller, J., Thiele, H., Nuernberg, P., Wappenschmidt, B., Neidhardt, G., Rhiem, K., Schmutzler, R., Hahnen, E. and Hauke, J. (2018). Next-generation sequencing via TruRisk (R) genepanel reveal high mutation prevalence in additional risk genes in German BRCA1/2-negative breast and ovarian cancer families. Eur. J. Hum. Genet., 26. S. 541 - 543. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Keupp, K., Richters, L., Buelow, L., Kroeber, S., Ernst, C., Bluemcke, B., Versmold, B., Waha, A., Driesen, J., Baasner, A., Altmueller, J., Thiele, H., Nuernberg, P., Wappenschmidt, B., Neidhardt, G., Rhiem, K., Schmutzler, R., Hahnen, E. and Hauke, J. (2017). TruRisk (R) based next-generation sequencing in BRCA1/2-negative breast and ovarian cancer families reveal high mutation prevalence in additional risk genes. Cancer Res., 77. PHILADELPHIA: AMER ASSOC CANCER RESEARCH. ISSN 1538-7445
Krieger, S., Leman, R., Gaildrat, P., Parsons, M., Boutry-Kryza, N., Bonnet-Dorion, F., Guillaud-Bataille, M., Rousselin, A., Davy, G., Caux-Montcoutier, V., Caputo, S., Mazoyer, S., Rouleau, E., Castelain, G., Wappenschmidt, B., Hansen, T. Van Overeem, Castera, L., Muller, D., Bourdon, V., Revillon, F., Sokolowska, J., Coullet, F., Sevenet, N., Spurdle, A., Martins, A. and Houdayer, C. (2018). Novel diagnostic guidelines for prediction of variant spliceogenicity derived from a set of 311 combined in silico and in vitro studies: an international collaborative effort. Eur. J. Hum. Genet., 26. S. 72 - 74. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438
Neidhardt, G., Hauke, J., Heilmann, S., Hellebrand, H., Surowy, H. M., Klaschik, K., Honisch, E., Gehrig, A., Sutter, C., Rump, A., Bogdanova-Markov, N., Bugert, P., Mangold, E., Steinemann, D., Ramirez, A., Ditsch, N., Arnold, N., Niederacher, D., Burwinkel, B., Thiele, H., Altmueller, I., Nuernberg, P., Engel, C., Wappenschmidt, B., Rhiem, K., Meindl, A., Schmutzler, R. K. and Hahnen, E. (2016). Compelling evidence for FANCM as a breast cancer susceptibility gene. Oncol. Res. Treat., 39. S. 54 - 55. BASEL: KARGER. ISSN 2296-5262
Richters, L., Rhiem, K., Wappenschmidt, B., Kiechle, M. and Schmutzler, R. (2014). Pathological complete response rates in patients with BRCA1/2-associated breast cancer after neoadjuvant chemotherapy. Oncol. Res. Treat., 37. S. 13 - 15. BASEL: KARGER. ISSN 2296-5262
Waha, A., Versmold, B., Kast, K., Kiechle, M., Ditsch, N., Meindl, A., Niederacher, D., Hahnen, E., Arnold, N., Mundhenke, C., Horvath, J., Bernd, A., Dikow, N., Hauke, J., Wappenschmidt, B., Riess, O., Schott, S., Speiser, D., Faust, U., Sutter, C., Rhiem, K. and Schmutzler, R. K. (2018). Consensus recommendation of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) on the transfer of multigene analysis data into the clinical care program. Oncol. Res. Treat., 41. S. 182 - 183. BASEL: KARGER. ISSN 2296-5262