RT info:eu-repo/semantics/article
T1 Multigene germline testing usefulness instead of BRCA1/2 single screening in triple negative breast cancer cases
A1 Arranz Ledo, Mónica
A1 Lastra, Enrique
A1 Abella, Luis Enrique
A1 Ferreira, Raquel
A1 Orozco, Marta
A1 Hernández, Lara
A1 Martínez Martín, Noemí
A1 Infante Sanz, María del Mar
A1 Durán Domínguez, María Mercedes
K1 Oncología
K1 Cancer Research
K1 Triple negative breast cancer
K1 Hereditary cancer
K1 Genetic testing
K1 Multigene panel
K1 Cáncer de mama triple negativo
K1 Cáncer hereditario
K1 Prueba genética
K1 Panel multigénico
K1 3207.13 Oncología
AB 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.
PB Elsevier
SN 0344-0338
YR 2023
FD 2023
LK https://uvadoc.uva.es/handle/10324/59593
UL https://uvadoc.uva.es/handle/10324/59593
LA eng
NO Pathology - Research and Practice, 2023, vol. 247, 154514
NO Producción Científica
DS UVaDOC
RD 20-may-2024