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9 p, 406.9 KB Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer / Fernández-Castillejo, Sara (Universitat Rovira i Virgili) ; Roig, Bàrbara (Universitat Rovira i Virgili) ; Melé, Mireia (Universitat Rovira i Virgili) ; Serrano, Sara (Universitat Rovira i Virgili) ; Salvat, Mònica (Universitat Rovira i Virgili) ; Querol, Montserrat (Universitat Rovira i Virgili) ; Brunet, Joan (Institut d'Investigació Biomèdica de Bellvitge) ; Pineda, Marta (Institut d'Investigació Biomèdica de Bellvitge) ; Cisneros, Adela (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Parada, David (Institut d'Investigació Sanitària Pere Virgili) ; Badia, Joan (Universitat Rovira i Virgili) ; Borràs, Joan (Universitat Rovira i Virgili) ; Rodríguez-Balada, Marta (Universitat Rovira i Virgili) ; Gumà, Josep (Universitat Rovira i Virgili)
Background: Multigene panel testing by next-generation sequencing (MGP-NGS) enables the detection of germline pathogenic or likely pathogenic variants (PVs/LPVs) in genes beyond those associated with a certain cancer phenotype. [...]
2023 - 10.1136/jmg-2023-109389
Journal of medical genetics, Vol. 61, Num. 1 (december 2023) , p. 69-77  
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