Evidence for pathogenicity of BRCA2 c.8351G>A p.(Arg2784Gln) and the challenges in classification of pathogenic variants with reduced penetrance

Source
Journal of medical genetics - ISSN 0022-2593- (2025) p.
Author(s)
    Setareh Moghadasi, Maria Zanti, Fonnet Bleeker, Marinus Blok, Merel E. Braspenning, Marta Cerna, Margriet J. Collee, Christoph Engel, Saskia Hopman, Petra Kleiblova, Wouter Koole, Arjen Mensenkamp, Eline Overwater, Edenir Inez Palmero, Lot Snijders Blok, Katrien Storm, Najada Stringa, Marijke R. Wevers, Maaike P.G. Vreeswijk, David Goldgar, Kyriaki Michailidou, Encarna B. Gomez Garcia