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2018
Nielsen, Sarah M., Eccles, Diana M., Romero, Iris L., Al-Mulla, Fand, Balmana, Judith, Biancolella, Michela, Blok, Rien, Caligo, Maria Adelaide, Calvello, Mariarosaria ORCID: 0000-0003-2113-8503, Capone, Gabriele Lorenzo, Cavalli, Pietro, Chan, T. L. Chris, Claes, Kathleen B. M., Cortesi, Laura, Couch, Fergus J., de la Hoya, Miguel, de Toffol, Simona, Diez, Orland, Domchek, Susan M., Eeles, Ros, Efremidis, Anna, Fostira, Florentia, Goldgar, David, Hadjisavvas, Andreas, Hansen, Thomas v O., Hirasawa, Akira, Houdayer, Claude, Kleiblova, Petra, Krieger, Sophie, Lazaro, Conxi, Loizidou, Maria, Manoukian, Siranoush, Mensenkamp, Arjen R., Moghadasi, Setareh, Monteiro, Alvaro N., Mori, Luigi, Morrow, April, Naldi, Nadia, Nielsen, Henriette R., Olopade, Olufunmilayo, I, Pachter, Nicholas S., Palrnero, Edenir, I, Pedersen, Inge S., Piane, Maria, Puzzo, Marianna, Robson, Mark, Rossing, Maria, Sini, Maria Christina, Solano, Angela, Soukupova, Jana, Tedaldi, Gianluca
ORCID: 0000-0003-0540-6694, Teixeira, Manuel
ORCID: 0000-0002-4896-5982, Thomassen, Mads, Tibiletti, Maria Grazia, Toland, Amanda, Torngren, Therese, Vaccari, Erica, Varesco, Liliana
ORCID: 0000-0003-4871-6668, Vega, Ana, Wallis, Yvonne, Wappenschmidt, Barbara, Weitzel, Jeffrey, Spurdle, Amanda B., De Nicolo, Arcangela
ORCID: 0000-0002-7275-5571 and Gomez-Garcia, Encarna B.
(2018).
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.
JCO Precis. Oncol., 2.
ALEXANDRIA:
AMER SOC CLINICAL ONCOLOGY.
ISSN 2473-4284
2015
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