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The Pathogenic R3052W BRCA2 Variant Disrupts Homology-Directed Repair by Failing to Localize to the Nucleus

The BRCA2 germline missense variant, R3052W, resides in the DNA binding domain and has been previously classified as a pathogenic allele. In this study, we sought to determine how R3052W alters the cellular functions of BRCA2 in the DNA damage response. The BRCA2 R3052W mutated protein exacerbates g...

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Detalles Bibliográficos
Autores principales:	Jimenez-Sainz, Judit, Krysztofiak, Adam, Garbarino, Jennifer, Rogers, Faye, Jensen, Ryan B.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9197106/ https://www.ncbi.nlm.nih.gov/pubmed/35711920 http://dx.doi.org/10.3389/fgene.2022.884210

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