Comprehensive Measurement of Inter-Individual Variation in DNA Repair Capacity in Healthy Individuals.

ABSTRACT: Rare genetic DNA repair deficiency syndromes can cause immunodeficiency, neurological disorders, and cancer. In the general population, inter-individual variation in DNA repair capacity (DRC) influences susceptibility to cancer and age-related diseases. Genome-wide association studies and functional analyses indicate that defects in multiple DNA repair pathways jointly increase disease risk, but previous technologies do not permit comprehensive population-level analysis. Fluorescence multiplex host cell reactivation (FM-HCR) assays now allow direct quantification of DRC across six major DNA repair pathways. DRC is assessed in phytohemagglutinin-stimulated primary lymphocytes from 56 healthy individuals, with reproducibility validated in 10 individuals across up to five independent blood dr

SUBMITTER: Zhai T 

PROVIDER: S-EPMC12713104 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature