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Novel driver gene MDC1 confers homologous recombination repair deficiency and genomic instability in chemoresistant relapsing ovarian cancer

GSE316442 Homo sapiens Expression profiling by high throughput sequencing 8 samples Submitted 2026/04/22 Platform GPL34284
Summary
Mutational burdens and clonal compositions are established early and are maintained throughout recurrence. Using both next generation and ultra long read sequencing to analyze single nucleotide and structural variants (SVs) we discovered that although tumors from the same patient remained relatively stable, homologous recombination repair proficient (HRP) and homologous recombination repair deficient (HRD) tumors presented with distinct clonal profiles. SV signature analysis revealed three distinct classes: tumors defined by DNA losses, DNA gains, and copy number neutral changes. Each class displayed structural variation affecting distinct regions of the genome. Ultra long read sequencing validated most of the SVs identified in short read sequencing and identified additional SVs. A novel candidate driver gene from the HRP pathway, MDC1, was significantly mutated in patients with HRP tumors.
Published in
Novel driver gene MDC1 confers homologous recombination repair deficiency and genomic instability in chemoresistant relapsing ovarian cancer
Diaz M, Gull N, Peng PC et al. · Journal of translational medicine 2026 · PMID 41792798 · doi:10.1186/s12967-026-07951-3
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Also filed as BioProject PRJNA1402912 and SRA study SRP662146. Searching any of these in the dataset finder brings you back here.

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