Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules

Pathological mutations in homology-directed repair (HDR) genes impact both future cancer risk and therapeutic options for patients. HDR is a high-fidelity DNA repair pathway for resolving DNA double-strand breaks throughout the genome. BRCA2 is an essential protein that mediates the loading of RAD51...

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Detalles Bibliográficos
Autores principales: Jimenez-Sainz, Judit, Jensen, Ryan B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161351/
https://www.ncbi.nlm.nih.gov/pubmed/34065235
http://dx.doi.org/10.3390/genes12050780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8161351/
https://www.ncbi.nlm.nih.gov/pubmed/34065235
http://dx.doi.org/10.3390/genes12050780

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