Article
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Human molecular genetics - 15 Sept 2015
Peterlongo Paolo, Catucci Irene, Colombo Mara, Caleca Laura, Mucaki Eliseos, Bogliolo Massimo, Marin Maria, Damiola Francesca, Bernard Loris, Pensotti Valeria, Volorio Sara, Dall'Olio Valentina, Meindl Alfons, Bartram Claus, Sutter Christian, Surowy Harald, Sornin Valérie, Dondon Marie-Gabrielle, Eon-Marchais Séverine, Stoppa-Lyonnet Dominique, Andrieu Nadine, Sinilnikova Olga M, Mitchell Gillian, James Paul A, Thompson Ella, Marchetti Marina, Verzeroli Cristina, Tartari Carmen, Capone Gabriele Lorenzo, Putignano Anna Laura, Genuardi Maurizio, Medici Veronica, Marchi Isabella, Federico Massimo, Tognazzo Silvia, Matricardi Laura, Agata Simona, Dolcetti Riccardo, Della Puppa Lara, Cini Giulia, Gismondi Viviana, Viassolo Valeria, Perfumo Chiara, Mencarelli Maria Antonietta, Baldassarri Margherita, Peissel Bernard, Roversi Gaia, Silvestri Valentina, Rizzolo Piera, Spina Francesca, Vivanet Caterina, Tibiletti Maria Grazia, Caligo Maria Adelaide, Gambino Gaetana, Tommasi Stefania, Pilato Brunella, Tondini Carlo, Corna Chiara, Bonanni Bernardo, Barile Monica, Osorio Ana, Benitez Javier, Balestrino Luisa, Ottini Laura, Manoukian Siranoush, Pierotti Marco A, Renieri Alessandra, Varesco Liliana, Couch Fergus J, Wang Xianshu, Devilee Peter, Hilbers Florentine S, van Asperen Christi J, Viel Alessandra, Montagna Marco, Cortesi Laura, Diez Orland, Balmaña Judith, Hauke Jan, Schmutzler Rita K, Papi Laura, Pujana Miguel Angel, Lázaro Conxi, Falanga Anna, Offit Kenneth, Vijai Joseph, Campbell Ian, Burwinkel Barbara, Kvist Anders, Ehrencrona Hans, Mazoyer Sylvie, Pizzamiglio Sara, Verderio Paolo, Surralles Jordi, Rogan Peter K, Radice Paolo
Abstract excerpt
Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; ) in exon 22 of FANCM gene and breast cancer. An analysis...