Foglia, Claudia

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

Colombo, Mara , López‐Perolio, Irene, Caleca, Laura , Li, Hongyan , Vecchi, Giovanna De, Tudini, Emma , Foglia, Claudia , Mondini, P, Manoukian, Siranoush , Behar, Raquel, Gómez, E. , Meindl, Alfons, Montagna, Marco , Niederacher, Dieter , Schmidt, Ane Yde , Varesco, Liliana , Wappenschmidt, Barbara , Bolla, Manjeet K. , Michailidou, Kyriaki , Wang, Qin , Aittomäki, Kristiina, Andrulis, Irene L. , Beckmann, Matthias W. , Beeghly-Fadel, Alicia, Benı́tez, Javier , Bojesen, Stig E. , Bonanni, Bernardo, Brauch, Hiltrud , Brenner, Hermann , Burwinkel, Barbara , Chang‐Claude, Jenny , Conroy, Don, Eriksson, Mikael , Fasching, Peter A. , Figueroa, Jonine D. , Fletcher, Olivia , Flyger, Henrik, Gabrielson, Marike , García‐Closas, Montserrat , González‐Neira, Anna , Guénel, Pascal , Haiman, Christopher A., Hamann, Ute , Hartman, Mikael , Hauke, Jan , Hopper, John L. , Jakubowska, Anna , Kosma, Veli‐Matti , Lambrechts, Diether , Marchand, Loid Le, Lindblom, Annika , Lubiński, Jan , Mannermaa, Arto, Margolin, Sara , Miao, Hui, Peterlongo, Paolo , Peto, Julian , Pylkäs, Katri , Sawyer, Elinor J. , Schmutzler, Rita K., Schneeweiß, Andreas , Schoemaker, Minouk J. , See, Mee‐Hoong , Southey, Melissa C. , Swerdlow, Anthony J. , Teo, Soo‐Hwang , Tomlinson, Ian , Truong, Thérèse , Ouweland, Ans M.W. van den, Kolk, Lizet E. van der, Winqvist, Robert , Zheng, Wei , Investigators, kConFab/AOCS, Easton, Douglas F. , Henderson, Alex, Hogervorst, Frans B.L., Izatt, Louise, Offitt, Kenneth, Side, Lucy, Rensburg, Elizabeth J. van , EMBRACE, Study, HEBON, Study, McGuffog, Lesley, Antoniou, Antonis C. , Chenevix‐Trench, Georgia , Goldgar, David E., Hoya, Miguel de la , Radice, Paolo , Bowtell, David D.L. , Lambrechts, Diether , Lambrechts, Diether , Peterlongo, Paolo , Teo, Soo H , van Rensburg, Elizabeth J , Swerdlow, Anthony J , de la Hoya, Miguel , Radice, Paolo , Southey, Melissa C , Jakubowska, Anna , Lambrechts, Diether , Brenner, Hermann , Guénel, Pascal , Hartman, Mikael , García-Closas, Montserrat , Michailidou, Kyriaki , Benitez, Javier , Montagna, Marco , Chenevix-Trench, Georgia , Zheng, Wei , Eriksson, Mikael , Figueroa, Jonine D , Gabrielson, Marike , Bowtell, David D , Meeks, Huong , Parsons, Michael T. , Meindl, Alfons, Dennis, Joe , Anton‐Culver, Hoda , Arndt, Volker , Boeckx, Bram , Bogdanova, Natalia , Bonanni, Bernardo , Couch, Fergus J. , Cox, Angela , Cross, Simon S. , Czene, Kamila , Devilee, Peter , Dörk, Thilo , Giles, Graham G. , Hall, Per N , Hollestelle, Antoinette , Jung, Audrey , Mannermaa, Arto , Miao, Hui, Milne, Roger L. , Neuhausen, Susan L. , Nevanlinna, Heli , Olson, Janet E. , Schmidt, Marjanka K. , Toland, Amanda Ewart , Asperen, Christi J. van , Yannoukakos, Drakoulis , Investigators, kConFab/AOCS, Dunning, Alison M. , Spurdle, Amanda B. , Goldgar, David E., Pylkäs, Katri , Gómez-García, Encarna B , Hauke, Jan , Manoukian, Siranoush , Lubinski, Jan , Fletcher, Olivia , Bojesen, Stig E , Schoemaker, Minouk J , Truong, Therese , Brauch, Hiltrud , Lindblom, Annika , Sawyer, Elinor J

Human Mutation | February 21, 2018 | Volume: 39 | Issue: 5 | Pages: 729-741

10.1002/humu.23411