Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics
Ernst, Corinna, Hahnen, Eric, Engel, Christoph, Nothnagel, Michael, Weber, Jonas, Schmutzler, Rita K, Hauke, Jan
Published in BMC medical genomics (27.03.2018)
Published in BMC medical genomics (27.03.2018)
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SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy
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Published in Human molecular genetics (15.04.2010)
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Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
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Published in Nature genetics (01.09.2023)
Published in Nature genetics (01.09.2023)
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Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer
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Published in Breast cancer research : BCR (29.04.2019)
Published in Breast cancer research : BCR (29.04.2019)
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Implementing HRD Testing in Routine Clinical Practice on Patients with Primary High-Grade Advanced Ovarian Cancer
Heitz, Florian, Ataseven, Beyhan, Staniczok, Claudia, Denkert, Carsten, Rhiem, Kerstin, Hahnen, Eric, Heikaus, Sebastian, Moubarak, Malak, Welz, Julia, Dagres, Timoleon, Vrentas, Vasilios, Bommert, Mareike, Schneider, Stephanie, Concin, Nicole, Harter, Philipp
Published in Cancers (29.01.2023)
Published in Cancers (29.01.2023)
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Cellular characterization of the peritumoral edema zone in malignant brain tumors
Engelhorn, Tobias, Savaskan, Nic E., Schwarz, Marc A., Kreutzer, Jürgen, Meyer, Eric P., Hahnen, Eric, Ganslandt, Oliver, Dörfler, Arnd, Nimsky, Christopher, Buchfelder, Michael, Eyüpoglu, Ilker Y.
Published in Cancer science (01.10.2009)
Published in Cancer science (01.10.2009)
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Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers
Borde, Julika, Laitman, Yael, Blümcke, Britta, Niederacher, Dieter, Weber-Lassalle, Konstantin, Sutter, Christian, Rump, Andreas, Arnold, Norbert, Wang-Gohrke, Shan, Horváth, Judit, Gehrig, Andrea, Schmidt, Gunnar, Dutrannoy, Véronique, Ramser, Juliane, Hentschel, Julia, Meindl, Alfons, Schroeder, Christopher, Wappenschmidt, Barbara, Engel, Christoph, Kuchenbaecker, Karoline, Schmutzler, Rita K, Friedman, Eitan, Hahnen, Eric, Ernst, Corinna
Published in BMC cancer (27.06.2022)
Published in BMC cancer (27.06.2022)
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Small interfering RNA-mediated xCT silencing in gliomas inhibits neurodegeneration and alleviates brain edema
Savaskan, Nicolai E, Eyüpoglu, Ilker Y, Heckel, Alexandra, Hahnen, Eric, Engelhorn, Tobias, Doerfler, Arnd, Ganslandt, Oliver, Nimsky, Christopher, Buchfelder, Michael
Published in Nature medicine (01.06.2008)
Published in Nature medicine (01.06.2008)
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Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction
Tüchler, Anja, De Pauw, Antoine, Ernst, Corinna, Anota, Amélie, Lakeman, Inge M.M., Dick, Julia, van der Stoep, Nienke, van Asperen, Christi J., Maringa, Monika, Herold, Natalie, Blümcke, Britta, Remy, Robert, Westerhoff, Anke, Stommel-Jenner, Denise J., Frouin, Eléonore, Richters, Lisa, Golmard, Lisa, Kütting, Nadine, Colas, Chrystelle, Wappenschmidt, Barbara, Rhiem, Kerstin, Devilee, Peter, Stoppa-Lyonnet, Dominique, Schmutzler, Rita K., Hahnen, Eric
Published in Breast (Edinburgh) (01.02.2024)
Published in Breast (Edinburgh) (01.02.2024)
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Incidence and Prognostic Impact of Deleterious Germline Mutations in Primary Advanced Ovarian Carcinoma Patients
Imterat, Majdi, Harter, Philipp, Rhiem, Kerstin, Heitz, Florian, Schneider, Stephanie, Concin, Nicole, Moubarak, Malak, Welz, Julia, Vrentas, Vasileios, Traut, Alexander, Hahnen, Eric, Schmutzler, Rita, du Bois, Andreas, Ataseven, Beyhan
Published in Cancers (28.04.2023)
Published in Cancers (28.04.2023)
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Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer
Rolfes, Muriel, Borde, Julika, Möllenhoff, Kathrin, Kayali, Mohamad, Ernst, Corinna, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Niederacher, Dieter, Horváth, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Rhiem, Kerstin, Engel, Christoph, Wappenschmidt, Barbara, Schmutzler, Rita K, Hahnen, Eric, Hauke, Jan
Published in Cancers (05.07.2022)
Published in Cancers (05.07.2022)
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Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction
Wappenschmidt, Barbara, Becker, Alexandra A, Hauke, Jan, Weber, Ute, Engert, Stefanie, Köhler, Juliane, Kast, Karin, Arnold, Norbert, Rhiem, Kerstin, Hahnen, Eric, Meindl, Alfons, Schmutzler, Rita K
Published in PloS one (11.12.2012)
Published in PloS one (11.12.2012)
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Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer
Herold, Natalie, Schmolling, Johanna, Ernst, Corinna, Ataseven, Beyhan, Blümcke, Britta, Schömig‐Markiefka, Birgid, Heikaus, Sebastian, Göhring, Uwe‐Jochen, Engel, Christoph, Lampe, Björn, Rhiem, Kerstin, Harter, Philipp, Hauke, Jan, Schmutzler, Rita K., Hahnen, Eric
Published in Cancer medicine (Malden, MA) (01.07.2023)
Published in Cancer medicine (Malden, MA) (01.07.2023)
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Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Sepahi, Ilnaz, Faust, Ulrike, Sturm, Marc, Bosse, Kristin, Kehrer, Martin, Heinrich, Tilman, Grundman-Hauser, Kathrin, Bauer, Peter, Ossowski, Stephan, Susak, Hana, Varon, Raymonda, Schröck, Evelin, Niederacher, Dieter, Auber, Bernd, Sutter, Christian, Arnold, Norbert, Hahnen, Eric, Dworniczak, Bernd, Wang-Gorke, Shan, Gehrig, Andrea, Weber, Bernhard H F, Engel, Christoph, Lemke, Johannes R, Hartkopf, Andreas, Nguyen, Huu Phuc, Riess, Olaf, Schroeder, Christopher
Published in BMC cancer (08.08.2019)
Published in BMC cancer (08.08.2019)
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Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer
Lepkes, Louisa, Kayali, Mohamad, Blümcke, Britta, Weber, Jonas, Suszynska, Malwina, Schmidt, Sandra, Borde, Julika, Klonowska, Katarzyna, Wappenschmidt, Barbara, Hauke, Jan, Kozlowski, Piotr, Schmutzler, Rita K, Hahnen, Eric, Ernst, Corinna
Published in Cancers (01.01.2021)
Published in Cancers (01.01.2021)
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A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype
Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B
Published in PloS one (04.10.2013)
Published in PloS one (04.10.2013)
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Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2 -germline mutation carrier: A case report and brief review of the literature
Herold, Natalie, Wappenschmidt, Barbara, Markiefka, Birgid, Keupp, Katharina, Kröber, Sandra, Hahnen, Eric, Schmutzler, Rita, Rhiem, Kerstin
Published in Oncology letters (01.04.2018)
Published in Oncology letters (01.04.2018)
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Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility
Keupp, Katharina, Hampp, Stephanie, Hübbel, Annette, Maringa, Monika, Kostezka, Sarah, Rhiem, Kerstin, Waha, Anke, Wappenschmidt, Barbara, Pujol, Roser, Surrallés, Jordi, Schmutzler, Rita K., Wiesmüller, Lisa, Hahnen, Eric
Published in Molecular genetics & genomic medicine (01.09.2019)
Published in Molecular genetics & genomic medicine (01.09.2019)
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