Clinical consequences of BRCA2 hypomorphism

The tumor suppressor FANCD1/BRCA2 is crucial for DNA homologous recombination repair (HRR). BRCA2 biallelic pathogenic variants result in a severe form of Fanconi anemia (FA) syndrome, whereas monoallelic pathogenic variants cause mainly hereditary breast and ovarian cancer predisposition. For decad...

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Detalles Bibliográficos
Autores principales: Castells-Roca, Laia, Gutiérrez-Enríquez, Sara, Bonache, Sandra, Bogliolo, Massimo, Carrasco, Estela, Aza-Carmona, Miriam, Montalban, Gemma, Muñoz-Subirana, Núria, Pujol, Roser, Cruz, Cristina, Llop-Guevara, Alba, Ramírez, María J., Saura, Cristina, Lasa, Adriana, Serra, Violeta, Diez, Orland, Balmaña, Judith, Surrallés, Jordi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429460/
https://www.ncbi.nlm.nih.gov/pubmed/34504103
http://dx.doi.org/10.1038/s41523-021-00322-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8429460/
https://www.ncbi.nlm.nih.gov/pubmed/34504103
http://dx.doi.org/10.1038/s41523-021-00322-9

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