Research Explorer

Project

In vivo functional evaluation of unclassified variants, found in the breast cancer gene BRCA2, using CRISPR-mediated genome editing in zebrafish
Code
01D24221
Duration
15 November 2021 → 14 November 2025
Funding
Regional and community funding: Special Research Fund
Research disciplines
  • Medical and health sciences
    • Clinical genetics and molecular diagnostics
    • Genetics
    • Molecular diagnostics
    • Cancer diagnosis
Keywords
Genome Editing in zebrafish Functional testing of variants of unknown clinical significance BRCA2
 
Project description

Germline pathogenic variants in BRCA2 are associated with a significantly increased risk of
breast cancer. Nevertheless, upon diagnostic testing in patients with a presumed genetic predisposition, significant numbers of variants of unknown significance (VUS) are identified in BRCA2. Our goal is to develop a pipeline for accurate, rapid, and cost-effective brca2 variant causality testing in zebrafish.