Daria Pagliara, Andrea Ciolfi, Lucia Pedace, Sadegheh Haghshenas, Marco Ferilli, Michael A Levy, Evelina Miele, Claudia Nardini, Camilla Cappelletti, Raissa Relator, Angela Pitisci, Rita De Vito, Simone Pizzi, Jennifer Kerkhof, Haley McConkey, Francesca Nazio, Sarina G Kant, Maddalena Di Donato, Emanuele Agolini, Marta Matraxia, Barbara Pasini, Alessandra Pelle, Tiziana Galluccio, Antonio Novelli, Tahsin Stefan Barakat, Marco Andreani, Francesca Rossi, Cristina Mecucci, Anna Savoia, Bekim Sadikovic, Franco Locatelli, Marco Tartaglia
Fanconi anemia (FA) is a clinically variable and genetically heterogeneous cancer-predisposing disorder representing the most common bone marrow failure syndrome. It is caused by inactivating predominantly biallelic mutations involving >20 genes encoding proteins with roles in the FA/BRCA DNA repair pathway. Molecular diagnosis of FA is challenging due to the wide spectrum of the contributing gene mutations and structural rearrangements. The assessment of chromosomal fragility after exposure to DNA cross-linking agents is generally required to definitively confirm diagnosis...
October 11, 2023: American Journal of Human Genetics