Clinical consequences of BRCA2 hypomorphism

Clinical consequences of BRCA2 hypomorphism

Abstract 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....

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Main Authors: Laia Castells-Roca, Sara Gutiérrez-Enríquez, Sandra Bonache, Massimo Bogliolo, Estela Carrasco, Miriam Aza-Carmona, Gemma Montalban, Núria Muñoz-Subirana, Roser Pujol, Cristina Cruz, Alba Llop-Guevara, María J. Ramírez, Cristina Saura, Adriana Lasa, Violeta Serra, Orland Diez, Judith Balmaña, Jordi Surrallés
Format: Article
Language:English
Published: Nature Publishing Group 2021-09-01
Series:npj Breast Cancer
Online Access:https://doi.org/10.1038/s41523-021-00322-9

Internet

https://doi.org/10.1038/s41523-021-00322-9

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