Universität zu Köln

Journal Article

Moghadasi, Setareh, Meeks, Huong D., Vreeswijk, Maaike P. G., Janssen, Linda A. M., Borg, Ake, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Paulsson-Karlsson, Ylva, Wappenschmidt, Barbara, Engel, Christoph ORCID: 0000-0002-7247-282X, Gehrig, Andrea, Arnold, Norbert ORCID: 0000-0003-4523-8808, Hansen, Thomas Van Overeem, Thomassen, Mads, Jensen, Uffe Birk ORCID: 0000-0002-6205-6355, Kruse, Torben A., Ejlertsen, Bent, Gerdes, Anne-Marie ORCID: 0000-0002-0328-3320, Pedersen, Inge Sokilde, Caputo, Sandrine M., Couch, Fergus, Hallberg, Emily J., van den Ouweland, Ans M. W., Collee, Margriet J., Teugels, Erik ORCID: 0000-0002-7828-4555, Adank, Muriel A., van der Luijt, Rob B., Mensenkamp, Arjen R., Oosterwijk, Jan C., Blok, Marinus J., Janin, Nicolas, Claes, Kathleen B. M., Tucker, Kathy, Viassolo, Valeria, Toland, Amanda Ewart, Eccles, Diana E., Devilee, Peter ORCID: 0000-0002-8023-2009, Van Asperen, Christie J., Spurdle, Amanda B., Goldgar, David E. and Garcia, Encarna Gomez (2018). The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium. J. Med. Genet., 55 (1). S. 15 - 21. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

Peterlongo, Paolo ORCID: 0000-0001-6951-6855, Catucci, Irene, Colombo, Mara ORCID: 0000-0001-5465-354X, Caleca, Laura ORCID: 0000-0002-3381-7493, Mucaki, Eliseos, Bogliolo, Massimo ORCID: 0000-0001-8240-7784, Marin, Maria, Damiola, Francesca ORCID: 0000-0002-0238-1252, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald ORCID: 0000-0002-3595-9188, Sornin, Valerie, Dondon, Marie-Gabrielle ORCID: 0000-0001-6016-8524, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina ORCID: 0000-0001-9036-960X, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio ORCID: 0000-0002-7410-8351, Medici, Veronica, Marchi, Isabella, Federico, Massimo ORCID: 0000-0002-5074-3262, Tognazzo, Silvia ORCID: 0000-0002-6260-1261, Matricardi, Laura ORCID: 0000-0002-0241-1810, Agata, Simona, Dolcetti, Riccardo ORCID: 0000-0003-1625-9853, Della Puppa, Lara, Cini, Giulia ORCID: 0000-0002-8696-8922, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard ORCID: 0000-0001-9233-3571, Roversi, Gaia, Silvestri, Valentina ORCID: 0000-0003-0712-9379, Rizzolo, Piera ORCID: 0000-0002-3421-1485, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana ORCID: 0000-0002-0671-0244, Tommasi, Stefania ORCID: 0000-0002-2157-2978, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana ORCID: 0000-0001-8124-3984, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra ORCID: 0000-0002-0846-9220, Varesco, Liliana ORCID: 0000-0003-4871-6668, Couch, Fergus J., Wang, Xianshu, Devilee, Peter ORCID: 0000-0002-8023-2009, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra ORCID: 0000-0003-2804-0840, Montagna, Marco, Cortesi, Laura ORCID: 0000-0001-8950-8561, Diez, Orland, Balmana, Judith ORCID: 0000-0002-0762-6415, Hauke, Jan, Schmutzler, Rita K., Papi, Laura ORCID: 0000-0003-4552-9517, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna ORCID: 0000-0002-5007-3457, Offit, Kenneth, Vijai, Joseph, Campbell, Ian ORCID: 0000-0002-7773-4155, Burwinkel, Barbara, Kvist, Anders ORCID: 0000-0002-1358-0695, Ehrencrona, Hans ORCID: 0000-0002-5589-3622, Mazoyer, Sylvie ORCID: 0000-0002-2135-0160, Pizzamiglio, Sara ORCID: 0000-0002-7759-0550, Verderio, Paolo ORCID: 0000-0002-9231-1281, Surralles, Jordi ORCID: 0000-0002-4041-7519, Rogan, Peter K. and Radice, Paolo ORCID: 0000-0001-6298-4111 (2015). FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor. Hum. Mol. Genet., 24 (18). S. 5345 - 5356. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083