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

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...

Full description

Bibliographic Details
Main Authors: Judit Jimenez-Sainz, Ryan B. Jensen
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Genes
Subjects:
BRCA2
variants of uncertain significance
DNA repair
homologous recombination
hereditary breast and ovarian cancer (HBOC)
BRCAness
Online Access:https://www.mdpi.com/2073-4425/12/5/780

Internet

https://www.mdpi.com/2073-4425/12/5/780

Similar Items