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Título
Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases
Autor
Año del Documento
2023
Editorial
Elsevier
Descripción
Producción Científica
Documento Fuente
Pathology - Research and Practice, 2023, vol. 247, 154514
Resumen
Triple negative breast cancer is considered as the worst aggressive subtype with poor prognosis. Recent studies suggest a hereditary component is involve in TNBC development, especially in young patients. However, genetic spectrum remains unclear. Our purpose was to evaluate the usefulness of multigene panel testing in triple negative patients respect overall breast cancer cases as well as contributing to elucidate which genes are most implicated in TNBC development with respect to the remaining breast cancer subtypes. A breast cancer patients sample comprised of 100 triple negative breast cancer patients and 100 other breast cancer subtypes patients were analyzed by Next-Generation Sequencing using an On-Demand panel which included 35 predisposition cancer genes associated with inherited cancer susceptibility. Triple negative breast cancer patients obtained a higher percentage of germline variant carriers. ATM, PALB2, BRIP1 and TP53 were the most non-BRCA mutated genes. Moreover, triple negative breast cancer patients without family history related which proved to be carriers were diagnosed at significant earlier age. As conclusion, our study reinforces the usefulness of multigene panel testing in breast cancer cases but specifically in those with triple negative subtype regardless family history.
Materias (normalizadas)
Oncología
Cancer Research
Materias Unesco
3207.13 Oncología
Palabras Clave
Triple negative breast cancer
Hereditary cancer
Genetic testing
Multigene panel
Cáncer de mama triple negativo
Cáncer hereditario
Prueba genética
Panel multigénico
ISSN
0344-0338
Revisión por pares
SI
Patrocinador
Junta de Castilla y León. Dirección Regional de Salud de Castilla y León (GRS/2180/A/2020 y GRS/2351/A/2021)
Propietario de los Derechos
© 2023 The Authors
Idioma
eng
Tipo de versión
info:eu-repo/semantics/publishedVersion
Derechos
openAccess
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