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Article

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

Journal of translational medicine - 6 Mar 2026

Diaz Michael, Gull Nicole, Peng Pei-Chen, Dabke Kruttika, Baker Jessica, Sun Jennifer, Alvarado Juan, Bastin Benjamin, Mazumdar Nimisha, Santiskulvong Chintda, Li Andrew J, Karlan Beth Y, Rimel B J, Parker Sarah J, Gayther Simon A, Jones Michelle R

Abstract excerpt

BACKGROUND: Nearly 80% of patients with High grade serous ovarian cancer (HGSOC) will experience recurrence within 5 years, but little is known about the mechanisms that drive this process. METHODS: In this study we used whole genome sequencing to assess SNV and SV burdens. These were in turn used to estimate clonal dynamics, genomic scarring, and establish mutational patterns. RESULTS: Mutational burdens and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41792798
DOI: 10.1186/s12967-026-07951-3
PMCID: PMC13081607

Genes

MDC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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