1 results match your criteria: "Center for Molecular Oncology and Institute for Systems Genomics[Affiliation]"
Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.
Hum Mutat
November 2019
Center for Molecular Oncology and Institute for Systems Genomics, UConn Health, Farmington, Connecticut.
Article Synopsis
- - Lynch syndrome (LS) is a genetic condition caused by mutations in DNA mismatch repair (MMR) genes, which increases cancer risk; identifying harmful mutations is crucial for diagnosis.
- - Missense variants can complicate diagnosis due to their uncertain effects on disease progression, necessitating research to understand their impact on protein function.
- - The study developed a new in-cellulo functional assay using CRISPR-Cas9 to analyze specific MSH2 variants in human stem cells, successfully evaluating the MMR function of eight out of ten variants, which may help identify patients at higher risk for LS.