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:EN
Published: Nature Portfolio 2021
Subjects:
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
RC254-282
Online Access:https://doaj.org/article/f5fbf0683dd64720a1c4fee28554ad68
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https://doaj.org/article/f5fbf0683dd64720a1c4fee28554ad68

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