The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

por Colombo, Mara, Lòpez‐Perolio, Irene, Meeks, Huong D., Caleca, Laura, Parsons, Michael T., Li, Hongyan, De Vecchi, Giovanna, Tudini, Emma, Foglia, Claudia, Mondini, Patrizia, Manoukian, Siranoush, Behar, Raquel, Garcia, Encarna B. Gómez, Meindl, Alfons, Montagna, Marco, Niederacher, Dieter, Schmidt, Ane Y., Varesco, Liliana, Wappenschmidt, Barbara, Bolla, Manjeet K., Dennis, Joe, Michailidou, Kyriaki, Wang, Qin, Aittomäki, Kristiina, Andrulis, Irene L., Anton‐Culver, Hoda, Arndt, Volker, Beckmann, Matthias W., Beeghly‐Fadel, Alicia, Benitez, Javier, Boeckx, 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, Dörk, Thilo, Eriksson, Mikael, Fasching, Peter A., Figueroa, Jonine, Fletcher, Olivia, Flyger, Henrik, Gabrielson, Marike, García‐Closas, Montserrat, Giles, Graham G., González‐Neira, Anna, Guénel, 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, Le Marchand, Loid, 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, Pylkäs, Katri, Sawyer, Elinor J., Schmidt, Marjanka K., Schmutzler, Rita K., Schneeweiss, Andreas, Schoemaker, Minouk J., See, Mee Hoong, Southey, Melissa C., Swerdlow, Anthony, Teo, Soo H., Toland, Amanda E., Tomlinson, Ian, Truong, Thérèse, van Asperen, Christi J., van den Ouweland, Ans M.W., van der Kolk, Lizet E., 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., van Rensburg, Elizabeth J., EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C., Chenevix‐Trench, Georgia, Spurdle, Amanda B., Goldgar, David E., de la Hoya, Miguel, Radice, Paolo
Publicado 2018

Breast Cancer Risk and 6q22.33: Combined Results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

por Kirchhoff, Tomas, Gaudet, Mia M., Antoniou, Antonis C., McGuffog, Lesley, Humphreys, Manjeet K., Dunning, Alison M., Bojesen, Stig E., Nordestgaard, Børge G., Flyger, Henrik, Kang, Daehee, Yoo, Keun-Young, Noh, Dong-Young, Ahn, Sei-Hyun, Dork, Thilo, Schürmann, Peter, Karstens, Johann H., Hillemanns, Peter, Couch, Fergus J., Olson, Janet, Vachon, Celine, Wang, Xianshu, Cox, Angela, Brock, Ian, Elliott, Graeme, Reed, Malcolm W.R., Burwinkel, Barbara, Meindl, Alfons, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Broeks, Annegien, Schmidt, Marjanka K., Van ‘t Veer, Laura J., Braaf, Linde M., Johnson, Nichola, Fletcher, Olivia, Gibson, Lorna, Peto, Julian, Turnbull, Clare, Seal, Sheila, Renwick, Anthony, Rahman, Nazneen, Wu, Pei-Ei, Yu, Jyh-Cherng, Hsiung, Chia-Ni, Shen, Chen-Yang, Southey, Melissa C., Hopper, John L., Hammet, Fleur, Van Dorpe, Thijs, Dieudonne, Anne-Sophie, Hatse, Sigrid, Lambrechts, Diether, Andrulis, Irene L., Bogdanova, Natalia, Antonenkova, Natalia, Rogov, Juri I., Prokofieva, Daria, Bermisheva, Marina, Khusnutdinova, Elza, van Asperen, Christi J., Tollenaar, Robert A.E.M., Hooning, Maartje J., Devilee, Peter, Margolin, Sara, Lindblom, Annika, Milne, Roger L., Arias, José Ignacio, Zamora, M. Pilar, Benítez, Javier, Severi, Gianluca, Baglietto, Laura, Giles, Graham G., kConFab, Group, AOCS Study, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Holland, Helene, Healey, Sue, Wang-Gohrke, Shan, Chang-Claude, Jenny, Mannermaa, Arto, Kosma, Veli-Matti, Kauppinen, Jaana, Kataja, Vesa, Agnarsson, Bjarni A., Caligo, Maria A., Godwin, Andrew K., Nevanlinna, Heli, Heikkinen, Tuomas, Fredericksen, Zachary, Lindor, Noralane, Nathanson, Katherine L., Domchek, Susan M., SWE-BRCA, Loman, Niklas, Karlsson, Per, Askmalm, Marie Stenmark, Melin, Beatrice, von Wachenfeldt, Anna, HEBON, Hogervorst, Frans B. L., Verheus, Martijn, Rookus, Matti A., Seynaeve, Caroline, Oldenburg, Rogier A., Ligtenberg, Marjolijn J., Ausems, Margreet G.E.M., Aalfs, Cora M., Gille, Hans J.P., Wijnen, Juul T., Gómez García, Encarna B., EMBRACE, Peock, Susan, Cook, Margaret, Oliver, Clare T., Frost, Debra, Luccarini, Craig, Pichert, Gabriella, Davidson, Rosemarie, Chu, Carol, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Douglas, Fiona, Hodgson, Shirley, Evans, D. Gareth, Eeles, Rosalind, Gold, Bert, Pharoah, Paul D.P., Offit, Kenneth, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado 2012