Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants

Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes. Recently, the BRCA1-associated ring domain (BARD1), that partners BRCA1 in DNA repair, has been confirmed as a m...

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Detalles Bibliográficos
Autores principales: Benito-Sánchez, B., Barroso, A., Fernández, V., Mercadillo, F., Núñez-Torres, R., Pita, G., Pombo, L., Morales-Chamorro, R., Cano-Cano, J. M., Urioste, M., González-Neira, A., Osorio, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9122922/
https://www.ncbi.nlm.nih.gov/pubmed/35595798
http://dx.doi.org/10.1038/s41598-022-12480-2

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