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BRCA2 deficiency and replication stress drive APOBEC3-Mediated genomic instability

  • Kathy Situ
  • , Haohui Duan
  • , Stephen K. Godin
  • , Joshua Yang
  • , Gabrielle Q. McCloskey
  • , Basim Naeem
  • , Margaret K. Gillis
  • , Muhammad H. Zeb
  • , Silvi Salhotra
  • , Pratha Rawal
  • , Nisha Patel
  • , Salome K. Mouliere
  • , Jie Chen
  • , Angéla Békési
  • , Hajnalka L. Pálinkás
  • , Subramanian Venkatesan
  • , Abby M. Green
  • , Nicolai J. Birkbak
  • , Beáta G. Vértessy
  • , Charles Swanton
  • Shailja Pathania
  • University of Massachusetts Boston
  • Budapest University of Technology and Economics
  • Research Centre for Natural Sciences
  • University College London
  • Washington University St. Louis
  • Aarhus University
  • The Francis Crick Institute
  • University College London Hospitals NHS Foundation Trust

Research output: Contribution to journal › Article › peer-review

Abstract

BRCA2 plays a critical role in stabilizing stalled replication forks, yet critical gaps remain in understanding how BRCA2 deficiency triggers fork collapse and drives genomic instability. Here, we identify cytidine deaminase APOBEC3B as a key driver of this process. Using a unique uracil-in-DNA probe, we show that BRCA2 loss promotes APOBEC3B-mediated uracil accumulation in single-stranded DNA (U-ssDNA) at stalled forks. These lesions when processed by UNG2 and APE1, trigger fork collapse and release ssDNA fragments into the cytoplasm, activating NF-κB signaling. This in turn upregulates APOBEC3B expression, establishing a self-reinforcing loop that amplifies cytidine deamination at stalled forks and exacerbates genomic instability. Depletion of APOBEC3B, UNG2, or APE1 rescues these defects. Notably, BRCA1-deficient cells do not accumulate U-ssDNA or induce APOBEC3B under replication stress, highlighting a BRCA2-specific vulnerability. Clinically, low APE1 expression correlates with poor survival in patients with BRCA2-mutant tumors, with high APOBEC3 levels further worsening outcomes. Together, our findings establish that replication stress, whether intrinsic or therapy induced, triggers APOBEC3B overexpression and potentially activates an APOBEC3B-driven mutagenic loop in BRCA2-deficient cells. These results position APOBEC3B, UNG2 and APE1 as critical regulators of BRCA2-mutant tumor evolution and therapy resistance.

Original languageEnglish
Article number9544
JournalNature Communications
Volume16
Issue number1
DOIs
StatePublished - Dec 2025

ASJC Scopus Subject Areas

  • General Chemistry
  • General Biochemistry,Genetics and Molecular Biology
  • General
  • General Physics and Astronomy

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