A recurrent pathogenic BRCA2 truncating variant reveals a role for BRCA2-PCAF complex in modulating NF-κB-driven transcription

Nat Commun. 2025 Dec 10;16(1):10953. doi: 10.1038/s41467-025-67209-2.

Abstract

Germline monoallelic truncating mutations in BRCA2, a key mediator of homologous recombination (HR), predispose individuals to breast and ovarian cancer. Tumorigenesis is typically attributed to biallelic inactivation, yet evidence suggests haploinsufficiency can suffice in some contexts. We model two pathogenic BRCA2 truncating variants in heterozygosis in non-tumorigenic breast epithelial cells. One variant is not expressed and confers PARP inhibitor (PARPi) sensitivity and reduced HR, indicating haploinsufficiency. In contrast, the other produces a truncated protein that rewires transcription in cells and tumors. Mechanistically, this truncated product acts as a dominant negative by forming abnormal oligomers with full-length BRCA2 and sequestering the PCAF acetyltransferase. This interaction reduces global histone H4 acetylation and suppresses NF-κB transcriptional activity, ultimately altering epithelial migration. Our findings reveal a BRCA2-PCAF axis that modulates NF-κB signaling, a process co-opted by a recurrent BRCA2 pathogenic variant.

MeSH terms

  • Acetylation
  • BRCA2 Protein* / genetics
  • BRCA2 Protein* / metabolism
  • Breast Neoplasms* / genetics
  • Breast Neoplasms* / metabolism
  • Breast Neoplasms* / pathology
  • Cell Line, Tumor
  • Female
  • Haploinsufficiency
  • Histones / metabolism
  • Humans
  • NF-kappa B* / genetics
  • NF-kappa B* / metabolism
  • Ovarian Neoplasms / genetics
  • Poly(ADP-ribose) Polymerase Inhibitors / pharmacology
  • Signal Transduction
  • Transcription, Genetic
  • p300-CBP Transcription Factors* / genetics
  • p300-CBP Transcription Factors* / metabolism

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • Histones
  • NF-kappa B
  • p300-CBP Transcription Factors
  • Poly(ADP-ribose) Polymerase Inhibitors