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Opportunistic genetic screening increases the diagnostic yield and is medically valuable for care of patients and their relatives with hereditary cancer.

Journal of medical genetics - 21 Dec 2023

Fernández-Castillejo Sara, Roig Bàrbara, Melé Mireia, Serrano Sara, Salvat Mònica, Querol Montserrat, Brunet Joan, Pineda Marta, Cisneros Adela, Parada David, Badia Joan, Borràs Joan, Rodríguez-Balada Marta, Gumà Josep

Abstract excerpt

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. Opportunistic genetic screening based on MGP-NGS in patients with suspicion of hereditary cancer reveals these incidental findings (IFs). METHODS: MGP-NGS was performed in patients who...

Topics

Humans
Adult
Middle Aged
Early Detection of Cancer
Genetic Testing
Neoplasms
Phenotype
Genetic Predisposition to Disease
Germ-Line Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37591735
DOI: 10.1136/jmg-2023-109389
PMCID: PMC10803988

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