Autor según el artículo: Fernandez-Castillejo, Sara; Roig, Barbara; Mele, Mireia; Serrano, Sara; Salvat, Monica; Querol, Montserrat; Brunet, Joan; Pineda, Marta; Cisneros, Adela; Parada, David; Badia, Joan; Borras, Joan; Rodriguez-Balada, Marta; Guma, Josep;
Departamento: Ciències Mèdiques Bàsiques
Autor/es de la URV: BORRAS BALADA, JOAN LLUÍS / FERNÁNDEZ CASTILLEJO, SARA / Gumà Padró, José / Parada Dominguez, David / RODRÍGUEZ BALADA, MARTA / Roig Bourgine, Barbara
Palabras clave: Variants Recommendations Rare Mutation detection Medical oncology Li-fraumeni syndrome Incidental findings Hereditary Guidelines Families Criteria Congenital, hereditary, and neonatal diseases and abnormalities Congenital And neonatal diseases and abnormalities
Resumen: BackgroundMultigene 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). MethodsMGP-NGS was performed in patients who fulfilled the clinical criteria to undergo genetic testing according to the Catalan Health Service guidelines. Variants were classified following the American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines and the Cancer Variant Interpretation Group UK guidelines. ResultsIFs were identified in 10 (1.22%) of the 817 patients who underwent MGP-NGS. The mean age at cancer diagnosis was 49.4 & PLUSMN;9.5 years. Three IFs (30.0%) were detected in PMS2, two (20.0%) in ATM and TP53 and one (10.0%) in MSH6, NTHL1 and VHL. Seven (70.0%) IFs were single-nucleotide substitutions, two (20.0%) were deletions and one (10.0%) was a duplication. Three (30.0) IFs were located in intronic regions, three (30.3%) were nonsense, two (20.0%) were frameshift and two (20.0%) were missense variations. Six (60.0%) IFs were classified as PVs and four (40.0%) as LPVs. ConclusionsOpportunistic genetic screening increased the diagnostic yield by 1.22% in our cohort. Most of the identified IFs were present in clinically actionable genes (n=7; 70.0%), providing these families with an opportunity to join cancer early detection programmes, as well as secondary cancer prevention. IFs might facilitate the diagnosis of asymptomatic individuals and the early management of cancer once it develops.
Áreas temáticas: Saúde coletiva Medicina ii Medicina i Genetics (clinical) Genetics & heredity Genetics General medicine Farmacia Ensino Ciências biológicas iii Ciências biológicas ii Ciências biológicas i Biotecnología
Acceso a la licencia de uso: https://creativecommons.org/licenses/by/3.0/es/
Direcció de correo del autor: david.parada@urv.cat barbara.roig@urv.cat jose.guma@urv.cat
Identificador del autor: 0000-0001-7541-9832
Fecha de alta del registro: 2024-08-03
Versión del articulo depositado: info:eu-repo/semantics/publishedVersion
Enlace a la fuente original: https://jmg.bmj.com/content/61/1/69
URL Documento de licencia: https://repositori.urv.cat/ca/proteccio-de-dades/
Referencia al articulo segun fuente origial: Journal Of Medical Genetics. 61 (1): 69-
Referencia de l'ítem segons les normes APA: Fernandez-Castillejo, Sara; Roig, Barbara; Mele, Mireia; Serrano, Sara; Salvat, Monica; Querol, Montserrat; Brunet, Joan; Pineda, Marta; Cisneros, Ade (2023). 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, 61(1), 69-. DOI: 10.1136/jmg-2023-109389
DOI del artículo: 10.1136/jmg-2023-109389
Entidad: Universitat Rovira i Virgili
Año de publicación de la revista: 2023
Tipo de publicación: Journal Publications
Repositori URV