Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Beatrix Versmold"'
Autor:
Jan Hauke, Judit Horvath, Eva Groß, Andrea Gehrig, Ellen Honisch, Karl Hackmann, Gunnar Schmidt, Norbert Arnold, Ulrike Faust, Christian Sutter, Julia Hentschel, Shan Wang‐Gohrke, Mateja Smogavec, Bernhard H. F. Weber, Nana Weber‐Lassalle, Konstantin Weber‐Lassalle, Julika Borde, Corinna Ernst, Janine Altmüller, Alexander E. Volk, Holger Thiele, Verena Hübbel, Peter Nürnberg, Katharina Keupp, Beatrix Versmold, Esther Pohl, Christian Kubisch, Sabine Grill, Victoria Paul, Natalie Herold, Nadine Lichey, Kerstin Rhiem, Nina Ditsch, Christian Ruckert, Barbara Wappenschmidt, Bernd Auber, Andreas Rump, Dieter Niederacher, Thomas Haaf, Juliane Ramser, Bernd Dworniczak, Christoph Engel, Alfons Meindl, Rita K. Schmutzler, Eric Hahnen
Publikováno v:
Cancer Medicine, Vol 7, Iss 4, Pp 1349-1358 (2018)
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 i
Externí odkaz:
https://doaj.org/article/ef20fad57668492e8e5c076a0c75dc32
Autor:
Jan Hauke, Marion Kiechle, Norbert Arnold, Alfons Meindl, Eric Hahnen, Sarah Schott, Karin Kast, Dorothee Speiser, Kerstin Rhiem, Nicola Dikow, Judit Horvath, Christian Sutter, Dieter Niederacher, Beatrix Versmold, Christoph Mundhenke, Nina Ditsch, Bernd Auber, Rita K. Schmutzler, Anke Waha, Olaf Riess, Barbara Wappenschmidt, Ulrike Faust
ZusammenfassungDas Deutsche Konsortium Familiärer Brust- und Eierstockkrebs (GC-HBOC) hat für die Analyse von Risikogenen für das familiäre Mamma- und Ovarialkarzinom ein Multigen-Panel (TruRisk®) etabliert, das derzeit die Kerngene („core gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::884815c52828effe9cde09188d1673c6
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83860
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83860
Autor:
Anke Waha, Barbara Wappenschmidt, Beatrix Versmold, Janine Altmüller, Holger Thiele, L Bülow, B Blümcke, Lisa Richters, Peter Nuernberg, C Ernst, Jan Hauke, S Kröber, A. Baasner, Rita K. Schmutzler, Guido Neidhardt, Eric Hahnen, K Rhiem, J Driesen, K Keupp
Publikováno v:
Cancer Research. 77:P3-08
Background: 24% of familial breast cancer (BC) and/or ovarian cancer (OC) cases analyzed within the framework of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC) are due to pathogenic BRCA1/2 mutations. However, the mutation p
Autor:
Dieter Niederacher, Mateja Smogavec, Konstantin Weber-Lassalle, Ellen Honisch, Judit Horvath, Victoria G. Paul, Christian Ruckert, Thomas Haaf, Norbert Arnold, N Herold, Katharina Keupp, Bernhard H. F. Weber, Julika Borde, Beatrix Versmold, Janine Altmüller, Alfons Meindl, Andreas Rump, Sabine Grill, Verena Hübbel, Christoph Engel, Shan Wang-Gohrke, Juliane Ramser, Holger Thiele, Christian Kubisch, Bernd Dworniczak, Alexander E Volk, Nana Weber-Lassalle, Jan Hauke, Kerstin Rhiem, Corinna Ernst, Gunnar Schmidt, Nadine Lichey, Peter Nürnberg, Christian Sutter, Barbara Wappenschmidt, Julia Hentschel, Nina Ditsch, Rita K. Schmutzler, Andrea Gehrig, Bernd Auber, Karl Hackmann, Eva Groß, Esther Pohl, Eric Hahnen, Ulrike Faust
Publikováno v:
Cancer Medicine
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 patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84f65d6830970778a48b280c3c3aae2
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83861
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83861
Autor:
N Arnold, Barbara Wappenschmidt, Bernd Auber, Nina Ditsch, Alfons Meindl, O. Riess, Anke Waha, C Mundhenke, Kerstin Rhiem, U Faust, Beatrix Versmold, Jan Hauke, K Kast, N Weber-Lasalle, Eric Hahnen, Marion Kiechle, Christian Sutter, Judit Horvath, Dieter Niederacher, Dorothee Speiser, Nicola Dikow, Sarah Schott, Rita K. Schmutzler
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ea4c894ddfd771f255978884477b22f
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83852
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83852
Autor:
Ignacio Blanco, Heli Nevanlinna, Norbert Arnold, Gad Rennert, Catherine Noguès, Javier Benitez, Etienne Rouleau, Embrace, Gemo, Irene Konstantopoulou, David J. Hughes, Flavio Lejbkowicz, kConFab, Rita K. Schmutzler, Mercedes Durán, Carole Brewer, Beatrix Versmold, Georgia Chenevix-Trench, Paolo Radice, Trevor Cole, Alfons Meindl, Ivan Bièche, Rosalind A. Eeles, Isabelle Coupier, Olga M. Sinilnikova, Hebon, A L Laborde, Florence Coulet, Kristiina Aittomäki, M. Cook, Ana Osorio, D. G. Evans, Dieter Schaefer, S. Giraud, Craig Luccarini, Jacques Simard, Hans J. J. P. Gille, Fiona Lalloo, Liliane Demange, Xiaoqing Chen, Florent Soubrier, Susan Peock, Amanda B. Spurdle, Rosemarie Davidson, Lesley McGuffog, T. A. M. van Os, Henry T. Lynch, Jacqueline Cook, Ursula G. Froster, Douglas F. Easton, Sara Dishon, Siranoush Manoukian, Christian Sutter, Gabriella Pichert, Frans B. L. Hogervorst, Mélanie Léoné, Jonathan Beesley, Katherine L. Nathanson, Rosette Lidereau, Sue Healey, Daniel Sinnett, Gc-Hboc, Christoph Engel, Joan Paterson, Chrystelle Colas, Mark H. Greene, U Hamann, Dominique Stoppa-Lyonnet, Ocgn, Irene L. Andrulis, Helmut Deissler, Jennifer T. Loud, A C Antoniou, Susan M. Domchek
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Recercat. Dipósit de la Recerca de Catalunya
British Journal of Cancer
Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Leone, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Duran, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, J J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bieche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomaki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G & Stoppa-Lyonnet, D 2009, ' The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', British Journal of Cancer, vol. 101, no. 8, pp. 1456-1460 . https://doi.org/10.1038/sj.bjc.6605279
British Journal of Cancer, 101(8), 1456-1460. Nature Publishing Group
Universidad de Barcelona
BRITISH JOURNAL OF CANCER
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Recercat. Dipósit de la Recerca de Catalunya
British Journal of Cancer
Sinilnikova, O M, Antoniou, A C, Simard, J, Healey, S, Leone, M, Sinnett, D, Spurdle, A B, Beesley, J, Chen, X, Greene, M H, Loud, J T, Lejbkowicz, F, Rennert, G, Dishon, S, Andrulis, I L, Domchek, S M, Nathanson, K L, Manoukian, S, Radice, P, Konstantopoulou, I, Blanco, I, Laborde, A L, Duran, M, Osorio, A, Benitez, J, Hamann, U, Hogervorst, F B L, van Os, T A M, Gille, J J P, Peock, S, Cook, M, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Davidson, R, Cole, T, Cook, J, Paterson, J, Brewer, C, Hughes, D J, Coupier, I, Giraud, S, Coulet, F, Colas, C, Soubrier, F, Rouleau, E, Bieche, I, Lidereau, R, Demange, L, Nogues, C, Lynch, H T, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Sutter, C, Deissler, H, Schaefer, D, Froster, U G, Aittomaki, K, Nevanlinna, H, McGuffog, L, Easton, D F, Chenevix-Trench, G & Stoppa-Lyonnet, D 2009, ' The TP53 Arg72Pro and MDM2 309G > T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', British Journal of Cancer, vol. 101, no. 8, pp. 1456-1460 . https://doi.org/10.1038/sj.bjc.6605279
British Journal of Cancer, 101(8), 1456-1460. Nature Publishing Group
BACKGROUND: The TP53 pathway, in which TP53 and its negative regulator MDM2 are the central elements, has an important role in carcinogenesis, particularly in BRCA1- and BRCA2-mediated carcinogenesis. A single nucleotide polymorphism (SNP) in the pro
Autor:
W. Hofmann, Gemma Llort, Jan Lubinski, Marina Pollán, Dieter Niederacher, Orland Diez, Heli Nevanlinna, Sabine Preisler-Adams, Norbert Arnold, Paolo Radice, Cezary Cybulski, P L Mai, Christoph Engel, Anna Jakubowska, Alfons Meindl, Drakoulis Yannoukakos, Bernard Peissel, Paolo Peterlongo, Javier Benítez, Dorothea Gadzicki, Lesley McGuffog, Tuomas Heikkinen, Ute Hamann, Rita K. Schmutzler, J T Loud, Tadeusz Dębniak, Aleksandra Tołoczko-Grabarek, Ana Osorio, G Pita, Antonis C. Antoniou, Beatrix Versmold
Publikováno v:
British Journal of Cancer
The close functional relationship between p53 and the breast cancer susceptibility genes BRCA1 and BRCA2 has promoted the investigation of various polymorphisms in the p53 gene as possible risk modifiers in BRCA1/2 mutation carriers. Specifically, tw
Autor:
Heli Nevanlinna, Carol Anne Gardiner, Alan Donaldson, Philippe Vennin, Michel Longy, Claude Adenis, Gemo, Timothy R. Rebbeck, Karin Kast, Amanda B. Spurdle, Jacques Simard, Allison M. Male, Jean-Pierre Fricker, Antonis C. Antoniou, Dominique Stoppa-Lyonnet, Virginia G. Kaklamani, kConFab, Ursula G. Froster, Rita K. Schmutzler, Fergus J. Couch, Lucy Side, Boris Pasche, Embrace, Ute Hamann, Jean-Philippe Peyrat, Christoph Engel, Beatrix Versmold, Danièle Muller, Irene L. Andrulis, Susan Peock, Dieter Schaefer, J. Fournier, Ian O. Ellis, Mark H. Greene, Csilla Szabo, Georgia Chenevix-Trench, Margaret Cook, Trinidad Caldés Llopis, Anne C. Robinson, Kristiina Aittomäki, Alfons Meindl, Olga M. Sinilnikova, Helen Gregory, Lutecia Pereira, Douglas F. Easton, Patricia Harrington, Louise Emmerson
Publikováno v:
Breast Cancer Research and Treatment. 115:185-192
BACKGROUND: The transforming growth factor beta-1 gene (TGFB1) is a plausible candidate for breast cancer susceptibility. The L10P variant of TGFB1 is associated with higher circulating levels and secretion of TGF-beta, and recent large-scale studies
Autor:
Joanne L. Blum, Lutecia Pereira, Douglas F. Easton, Timothy R. Rebbeck, Frans B L Hogervorst, Javier Benítez, Fiona Douglas, Carol Chu, Susan Peock, Csilla Szabo, Fergus J. Couch, Brigitte Bressac-de Paillerets, Ute Hamann, Roni Milgrom, Maria A. Caligo, W. Hofmann, M. Barile, Patricia A. Ganz, Paolo Radice, Xiaoqing Chen, Radka Platte, Christian Sutter, Sylvie Mazoyer, Diana Eccles, Sue Healey, Corinne Capoulade, Amanda B. Spurdle, Violaine Bourdon, Jonathan Beesley, Gemma Llort, Alfons Meindl, Antonis Antoniou, Georgia Chenevix-Trench, Paolo Peterlongo, Olga M. Sinilnikova, Agnès Chompret, Claudine Isaacs, Ana Osorio, Claude Houdayer, Flavio Lejbkowicz, Susan L. Neuhausen, Peggy Manders, Mark H. Greene, Roger L. Milne, Gad Rennert, Henry T. Lynch, Eitan Friedman, Christoph Engel, Irene L. Andrulis, Gail E. Tomlinson, Rosalind A. Eeles, Dieter Niederacher, Marjolijn J L Ligtenberg, Hagay Sobol, Ofra Barnett-Griness, D. Gareth Evans, M. Cook, Gilbert M. Lenoir, Mary B. Daly, Hilmi Ozcelik, Ans M.W. van den Ouweland, François Eisinger, Beatrix Versmold, Bella Kaufman, Helmut Deissler, Trinidad Caldés, Rosemarie Davidson, Susan M. Domchek, Marion Gauthier-Villars, Gabriella Pichert, Dominique Stoppa-Lyonnet, Siranoush Manoukian, Andrew K. Godwin, Heli Nevanlinna, Norbert Arnold, Anne-Marie Gerdes, Olufunmilayo I. Olopade, Laure Barjhoux, Katherine L. Nathanson, Yael Laitman, Rita K. Schmutzler, Theresa Wagner, Jeffrey N. Weitzel, Karen A. Pooley, Kati Kämpjärvi, Jacques Simard
Publikováno v:
American Journal of Human Genetics, 82(4), 937-948. Cell Press
American Journal of Human Genetics, 82, 937-48
American Journal of Human Genetics, 82, 4, pp. 937-48
Antoniou, A C, Spurdle, A B, Sinilnikova, O M, Healey, S, Pooley, K A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Hofmann, W, Sutter, C, Niederacher, D, Deissler, H, Caldes, T, Kämpjärvi, K, Nevanlinna, H, Simard, J, Beesley, J, Chen, X, for Research into Familial Breast Cancer, K C, Neuhausen, S L, Rebbeck, T R, Wagner, T, Lynch, H T, Isaacs, C, Weitzel, J, Ganz, P A, Daly, M B, Tomlinson, G, Olopade, O I, Blum, J L, Couch, F J, Peterlongo, P, Manoukian, S, Barile, M, Radice, P, Szabo, C I, Pereira, L H M, Greene, M H, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Group, OCGN, Gerdes, A-M, Caligo, M A, Laitman, Y, Kaufman, B, Milgrom, R, Friedman, E, study collaborators, S BRCA A BRCA, Domchek, S M, Nathanson, K L, Osorio, A, Llort, G, Milne, R L, Benítez, J, Hamann, U, Hogervorst, F B L, Manders, P, Ligtenberg, M J L, van den Ouweland, A M W, collaborators, DNA-HEBON, Peock, S, Cook, M, Platte, R, Evans, D G, Eeles, R, Pichert, G, Chu, C, Eccles, D, Davidson, R, Douglas, F, Group, EMBRACE, Godwin, A K, Barjhoux, L, Mazoyer, S, Sobol, H, Bourdon, V, Eisinger, F, Chompret, A, Capoulade, C, Bressac-de Paillerets, B, Lenoir, G M, Gauthier-Villars, M, Houdayer, C, Stoppa-Lyonnet, D, Group, GEMO, Chenevix-Trench, G, Easton, D F & Group, CIMBA 2008, ' Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', American Journal of Human Genetics, vol. 82, no. 4, pp. 937-48 . https://doi.org/10.1016/j.ajhg.2008.02.008
American Journal of Human Genetics, 82, 937-48
American Journal of Human Genetics, 82, 4, pp. 937-48
Antoniou, A C, Spurdle, A B, Sinilnikova, O M, Healey, S, Pooley, K A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Hofmann, W, Sutter, C, Niederacher, D, Deissler, H, Caldes, T, Kämpjärvi, K, Nevanlinna, H, Simard, J, Beesley, J, Chen, X, for Research into Familial Breast Cancer, K C, Neuhausen, S L, Rebbeck, T R, Wagner, T, Lynch, H T, Isaacs, C, Weitzel, J, Ganz, P A, Daly, M B, Tomlinson, G, Olopade, O I, Blum, J L, Couch, F J, Peterlongo, P, Manoukian, S, Barile, M, Radice, P, Szabo, C I, Pereira, L H M, Greene, M H, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Group, OCGN, Gerdes, A-M, Caligo, M A, Laitman, Y, Kaufman, B, Milgrom, R, Friedman, E, study collaborators, S BRCA A BRCA, Domchek, S M, Nathanson, K L, Osorio, A, Llort, G, Milne, R L, Benítez, J, Hamann, U, Hogervorst, F B L, Manders, P, Ligtenberg, M J L, van den Ouweland, A M W, collaborators, DNA-HEBON, Peock, S, Cook, M, Platte, R, Evans, D G, Eeles, R, Pichert, G, Chu, C, Eccles, D, Davidson, R, Douglas, F, Group, EMBRACE, Godwin, A K, Barjhoux, L, Mazoyer, S, Sobol, H, Bourdon, V, Eisinger, F, Chompret, A, Capoulade, C, Bressac-de Paillerets, B, Lenoir, G M, Gauthier-Villars, M, Houdayer, C, Stoppa-Lyonnet, D, Group, GEMO, Chenevix-Trench, G, Easton, D F & Group, CIMBA 2008, ' Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', American Journal of Human Genetics, vol. 82, no. 4, pp. 937-48 . https://doi.org/10.1016/j.ajhg.2008.02.008
Contains fulltext : 70697.pdf (Publisher’s version ) (Closed access) Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that c
Autor:
Andreas Waha, Juergen A. Hampl, Dieter Niederacher, Martin Hellmich, Juliane Köhler, Gabriele Röhn, Rita K. Schmutzler, Denise Ehrentraut, Beate Betz, Torsten Pietsch, J Felsberg, Thomas Mikeska, Beatrix Versmold
Publikováno v:
International Journal of Cancer. 121:547-554
Extensive hypermethylation and consecutive transcriptional silencing of tumorsuppressor genes have been documented in multiple tumor entities including breast cancer. In a microarray based genome-wide methylation analysis of five sporadic breast carc