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- One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility geneFlorentia Fostira, Irene Kostantopoulou, Paraskevi Apostolou, Myrto S Papamentzelopoulou, Christos Papadimitriou, Eleni Faliakou, Christos Christodoulou, Ioannis Boukovinas, Evangelia Razis, Dimitrios Tryfonopoulos, Vasileios Barbounis, Andromache Vagena, Ioannis S Vlachos, Despoina Kalfakakou, George Fountzilas, Drakoulis YannoukakosJournal of Medical Genetics Jan 2020, 57 (1) 53-61; DOI: 10.1136/jmedgenet-2019-106189
- Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA reportIrene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, kConFab Investigators, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la HoyaJournal of Medical Genetics Jul 2019, 56 (7) 453-460; DOI: 10.1136/jmedgenet-2018-105834
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