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Zeitschriftenartikel
Colombo, Mara; Lopez-Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; Vecchi, Giovanna de; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Garcia, Encarna B. Gomez; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y.; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K.; Dennis, Joe; Michailidou, Kyriaki; Wang, Qin; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmann, Matthias W.; Beeghly-Fadel, Alicia; Benitez, Javier; Böckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Chang-Claude, Jenny; Conroy, Don M.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Devilee, Peter; Dork, Thilo; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Gabrielson, Marike; Garcia-Closas, Montserrat; Giles, Graham G.; Gonzalez-Neira, Anna; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hollestelle, Antoinette; Hopper, John L.; Jakubowska, Anna; Jung, Audrey; Kosma, Veli-Matti; Lambrechts, Diether; Marchand, Loid le; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Miao, Hui; Milne, Roger L.; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Peterlongo, Paolo; Peto, Julian; Pylkas, Katri; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schömaker, Minouk J.; See, Mee Hoong; Southey, Melissa C.; Swerdlow, Anthony; Teo, Soo H.; Toland, Amanda E.; Tomlinson, Ian; Truong, Therese; Asperen, Christi J. van; Ouweland, Ans M. W. van den; Kolk, Lizet E. van der; Winqvist, Robert; Yannoukakos, Drakoulis; Zheng, Wei; Dunning, Alison M.; Easton, Douglas F.; Henderson, Alex; Hogervorst, Frans B. L.; Izatt, Louise; Offitt, Kenneth; Side, Lucy E.; Rensburg, Elizabeth J. van; McGuffog, Lesley; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Goldgar, David E.; Hoya, Miguel de la und Radice, Paolo
(2018):
The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
In: Human Mutation, Bd. 39, Nr. 5: S. 729-741
Spurdle, Amanda B.; Couch, Fergus J.; Parsons, Michael T.; McGuffog, Lesley; Barrowdale, Daniel; Bolla, Manjeet K.; Wang, Qin; Healey, Sue; Schmutzler, Rita Katharina; Wappenschmidt, Barbara; Rhiem, Kerstin; Hahnen, Eric; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hansjörg; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Ellis, Steve; Frost, Debra; Platte, Radka; Perkins, Jo; Evans, D. Gareth; Izatt, Louise; Eeles, Ros; Adlard, Julian; Davidson, Rosemarie; Cole, Trevor; Scuvera, Giulietta; Manoukian, Siranoush; Bonanni, Bernardo; Mariette, Frederique; Fortuzzi, Stefano; Viel, Alessandra; Pasini, Barbara; Papi, Laura; Varesco, Liliana; Balleine, Rosemary; Nathanson, Katherine L.; Domchek, Susan M.; Offitt, Kenneth; Jakubowska, Anna; Lindor, Noralane; Thomassen, Mads; Jensen, Uffe Birk; Rantala, Johanna; Borg, Ake; Andrulis, Irene L.; Miron, Alexander; Hansen, Thomas V. O.; Caldes, Trinidad; Neuhausen, Susan L.; Toland, Amanda E.; Nevanlinna, Heli; Montagna, Marco; Garber, Judy; Godwin, Andrew K.; Osorio, Ana; Factor, Rachel E.; Terry, Mary B.; Rebbeck, Timothy R.; Karlan, Beth Y.; Southey, Melissa; Rashid, Muhammad Usman; Tung, Nadine; Pharoah, Paul D. P.; Blows, Fiona M.; Dunning, Alison M.; Provenzano, Elena; Hall, Per; Czene, Kamila; Schmidt, Marjanka K.; Broeks, Annegien; Cornelissen, Sten; Verhoef, Senno; Fasching, Peter A.; Beckmann, Matthias W.; Ekici, Arif B.; Slamon, Dennis J.; Bojesen, Stig E.; Nordestgaard, Borge G.; Nielsen, Sune F.; Flyger, Henrik; Chang-Claude, Jenny; Flesch-Janys, Dieter; Rudolph, Anja; Seibold, Petra; Aittomäki, Kristiina; Muranen, Taru A.; Heikkila, Paivi; Blomqvist, Carl; Figueroa, Jonine; Chanock, Stephen J.; Brinton, Louise; Lissowska, Jolanta; Olson, Janet E.; Pankratz, Vernon S.; John, Esther M.; Whittemore, Alice S.; West, Dee W.; Hamann, Ute; Torres, Diana; Ulmer, Hans Ulrich; Rudiger, Thomas; Devilee, Peter; Tollenaar, Robert A. E. M.; Seynaeve, Caroline; Asperen, Christi J. van; Eccles, Diana M.; Tapper, William J.; Durcan, Lorraine; Jones, Louise; Peto, Julian; dos-Santos-Silva, Isabel; Fletcher, Olivia; Johnson, Nichola; Dwek, Miriam; Swann, Ruth; Bane, Anita L.; Glendon, Gord; Mulligan, Anna M.; Giles, Graham G.; Milne, Roger L.; Baglietto, Laura; McLean, Catriona; Carpenter, Jane; Clarke, Christine; Scott, Rodney; Brauch, Hiltrud; Bruning, Thomas; Ko, Yon-Dschun; Cox, Angela; Cross, Simon S.; Reed, Malcolm W. R.; Lubinski, Jan; Jaworska-Bieniek, Katarzyna; Durda, Katarzyna; Gronwald, Jacek; Dork, Thilo; Bogdanova, Natalia; Park-Simon, Tjoung-Won; Hillemanns, Peter; Haiman, Christopher A.; Henderson, Brian E.; Schumacher, Fredrick; Le Marchand, Loic; Burwinkel, Barbara; Marme, Frederik; Surovy, Harald; Yang, Rongxi; Anton-Culver, Hoda; Ziogas, Argyrios; Hooning, Maartje J.; Collee, J. Margriet; Martens, John W. M.; Tilanus-Linthorst, Madeleine M. A.; Brenner, Hermann; Dieffenbach, Aida Karina; Arndt, Volke; Stegmaier, Christa; Winqvist, Robert; Pylkas, Katri; Jukkola-Vuorinen, Arja; Grip, Mervi; Lindblom, Annika; Margolin, Sara; Joseph, Vijai; Robson, Mark; Rau-Murthy, Rohini; Gonzalez-Neira, Anna; Arias, Jose Ignacio; Zamora, Pilar; Benitez, Javier; Mannermaa, Arto; Kataja, Vesa; Kosma, Veli-Matti; Hartikainen, Jaana M.; Peterlongo, Paolo; Zaffaroni, Daniela; Barile, Monica; Capra, Fabio; Radice, Paolo; Teo, Soo H.; Easton, Douglas F.; Antoniou, Antonis C.; Chenevix-Trench, Georgia und Goldgar, David E.
(2014):
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.
In: Breast Cancer Research
16:3419
[PDF, 569kB]