نتائج البحث - Wappenschmidt, Barbara

Non-small cell neuroendocrine carcinoma of the ovary in a BRCA2-germline mutation carrier: A case report and brief review of the literature حسب Herold, Natalie, Wappenschmidt, Barbara, Markiefka, Birgid, Keupp, Katharina, Kröber, Sandra, Hahnen, Eric, Schmutzler, Rita, Rhiem, Kerstin

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TP53-binding protein variants and breast cancer risk: a case-control study حسب Frank, Bernd, Hemminki, Kari, Bermejo, Justo Lorenzo, Klaes, Rüdiger, Bugert, Peter, Wappenschmidt, Barbara, Schmutzler, Rita K, Burwinkel, Barbara

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Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study حسب Burwinkel, Barbara, Shanmugam, Kalai S, Hemminki, Kari, Meindl, Alfons, Schmutzler, Rita K, Sutter, Christian, Wappenschmidt, Barbara, Kiechle, Marion, Bartram, Claus R, Frank, Bernd

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BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study حسب Frank, Bernd, Hemminki, Kari, Meindl, Alfons, Wappenschmidt, Barbara, Sutter, Christian, Kiechle, Marion, Bugert, Peter, Schmutzler, Rita K, Bartram, Claus R, Burwinkel, Barbara

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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 حسب 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.

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Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Canc... حسب Wappenschmidt, Barbara, Hauke, Jan, Faust, Ulrike, Niederacher, Dieter, Wiesmüller, Lisa, Schmidt, Gunnar, Groß, Evi, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Rump, Andreas, Arnold, Norbert, Meindl, Alfons

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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 حسب 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

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RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families حسب Schnurbein, Gioia, Hauke, Jan, Wappenschmidt, Barbara, Weber-Lassalle, Nana, Engert, Stefanie, Hellebrand, Heide, Garbes, Lutz, Becker, Alexandra, Neidhardt, Guido, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K, Hahnen, Eric

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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... حسب 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

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ENIGMA - Evidence-based Network for the Interpretation of Germline Mutant Alleles: An international initiative to evaluate risk and clinical significance associated with sequence v... حسب Spurdle, Amanda B, Healey, Sue, Devereau, Andrew, Hogervorst, Frans BL, Monteiro, Alvaro NA, Nathanson, Katherine L, Radice, Paolo, Stoppa-Lyonnet, Dominique, Tavtigian, Sean, Wappenschmidt, Barbara, Couch, Fergus J, Goldgar, David E

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DNA methylation array analysis identifies breast cancer associated RPTOR, MGRN1 and RAPSN hypomethylation in peripheral blood DNA حسب Tang, Qiuqiong, Holland-Letz, Tim, Slynko, Alla, Cuk, Katarina, Marme, Frederik, Schott, Sarah, Heil, Jörg, Qu, Bin, Golatta, Michael, Bewerunge-Hudler, Melanie, Sutter, Christian, Surowy, Harald, Wappenschmidt, Barbara, Schmutzler, Rita, Hoth, Markus, Bugert, Peter, Bartram, Claus R., Sohn, Christof, Schneeweiss, Andreas, Yang, Rongxi, Burwinkel, Barbara

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Nuclear receptor coregulator SNP discovery and impact on breast cancer risk حسب Hartmaier, Ryan J, Tchatchou, Sandrine, Richter, Alexandra S, Wang, Jay, McGuire, Sean E, Skaar, Todd C, Rae, Jimmy M, Hemminki, Kari, Sutter, Christian, Ditsch, Nina, Bugert, Peter, Weber, Bernhard HF, Niederacher, Dieter, Arnold, Norbert, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Schmutzler, Rita K, Meindl, Alfons, Bartram, Claus R, Burwinkel, Barbara, Oesterreich, Steffi

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Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers حسب 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

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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 حسب 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

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Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast Cancer حسب Neidhardt, Guido, Hauke, Jan, Ramser, Juliane, Groß, Eva, Gehrig, Andrea, Müller, Clemens R., Kahlert, Anne-Karin, Hackmann, Karl, Honisch, Ellen, Niederacher, Dieter, Heilmann-Heimbach, Stefanie, Franke, André, Lieb, Wolfgang, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Klaschik, Kristina, Ernst, Corinna, Ditsch, Nina, Jessen, Frank, Ramirez, Alfredo, Wappenschmidt, Barbara, Engel, Christoph, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric

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Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history حسب Engel, Christoph, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E., Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Blümcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R., Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Günter, Weber, Bernhard H. F., Engel, Jutta, Schmutzler, Rita K.

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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 حسب Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horváth, Judit, Niederacher, Dieter, Arnold, Norbert, Kaulfuß, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmüller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nürnberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan

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The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers حسب Laitman, Yael, Kuchenbaecker, Karoline B., Rantala, Johanna, Hogervorst, Frans, Peock, Susan, Godwin, Andrew K., Arason, Adalgeir, Kirchhoff, Tomas, Offit, Kenneth, Isaacs, Claudine, Schmutzler, Rita K., Wappenschmidt, Barbara, Nevanlinna, Heli, Chen, Xiaoqing, Chenevix-Trench, Georgia, Healey, Sue, Couch, Fergus, Peterlongo, Paolo, Radice, Paolo, Nathanson, Katherine L., Caligo, Maria Adelaide, Neuhausen, Susan L., Ganz, Patricia, Sinilnikova, Olga M., McGuffog, Lesley, Easton, Douglas F., Antoniou, Antonis C., Wolf, Ido, Friedman, Eitan

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Performance of Breast Cancer Polygenic Risk Scores in 760 Female CHEK2 Germline Mutation Carriers حسب Borde, Julika, Ernst, Corinna, Wappenschmidt, Barbara, Niederacher, Dieter, Weber-Lassalle, Konstantin, Schmidt, Gunnar, Hauke, Jan, Quante, Anne S, Weber-Lassalle, Nana, Horváth, Judit, Pohl-Rescigno, Esther, Arnold, Norbert, Rump, Andreas, Gehrig, Andrea, Hentschel, Julia, Faust, Ulrike, Dutrannoy, Véronique, Meindl, Alfons, Kuzyakova, Maria, Wang-Gohrke, Shan, Weber, Bernhard H. F, Sutter, Christian, Volk, Alexander E, Giannakopoulou, Olga, Lee, Andrew, Engel, Christoph, Schmidt, Marjanka K, Antoniou, Antonis C, Schmutzler, Rita K, Kuchenbaecker, Karoline, Hahnen, Eric

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Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort حسب Leman, Raphaël, Gaildrat, Pascaline, Le Gac, Gérald, Ka, Chandran, Fichou, Yann, Audrezet, Marie-Pierre, Caux-Moncoutier, Virginie, Caputo, Sandrine M, Boutry-Kryza, Nadia, Léone, Mélanie, Mazoyer, Sylvie, Bonnet-Dorion, Françoise, Sevenet, Nicolas, Guillaud-Bataille, Marine, Rouleau, Etienne, Bressac-de Paillerets, Brigitte, Wappenschmidt, Barbara, Rossing, Maria, Muller, Danielle, Bourdon, Violaine, Revillon, Françoise, Parsons, Michael T, Rousselin, Antoine, Davy, Grégoire, Castelain, Gaia, Castéra, Laurent, Sokolowska, Joanna, Coulet, Florence, Delnatte, Capucine, Férec, Claude, Spurdle, Amanda B, Martins, Alexandra, Krieger, Sophie, Houdayer, Claude

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