Mechanism of tandem duplication formation in BRCA1-mutant cells

Nature. 2017 Nov 30;551(7682):590-595. doi: 10.1038/nature24477. Epub 2017 Nov 22.

Abstract

Small, approximately 10-kilobase microhomology-mediated tandem duplications are abundant in the genomes of BRCA1-linked but not BRCA2-linked breast cancer. Here we define the mechanism underlying this rearrangement signature. We show that, in primary mammalian cells, BRCA1, but not BRCA2, suppresses the formation of tandem duplications at a site-specific chromosomal replication fork barrier imposed by the binding of Tus proteins to an array of Ter sites. BRCA1 has no equivalent role at chromosomal double-stranded DNA breaks, indicating that tandem duplications form specifically at stalled forks. Tandem duplications in BRCA1 mutant cells arise by a replication restart-bypass mechanism terminated by end joining or by microhomology-mediated template switching, the latter forming complex tandem duplication breakpoints. Solitary DNA ends form directly at Tus-Ter, implicating misrepair of these lesions in tandem duplication formation. Furthermore, BRCA1 inactivation is strongly associated with ~10 kilobase tandem duplications in ovarian cancer. This tandem duplicator phenotype may be a general signature of BRCA1-deficient cancer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • BRCA1 Protein
  • Cells, Cultured
  • DNA Breaks, Double-Stranded
  • DNA End-Joining Repair / genetics*
  • DNA Repair
  • DNA Replication / genetics*
  • Embryonic Stem Cells
  • Female
  • Genes, Reporter
  • Homologous Recombination
  • Humans
  • Mice
  • Ovarian Neoplasms / genetics
  • Sequence Deletion
  • Tandem Repeat Sequences / genetics*
  • Tumor Suppressor Proteins / deficiency*
  • Tumor Suppressor Proteins / genetics*
  • Tumor Suppressor Proteins / metabolism

Substances

  • BRCA1 Protein
  • Brca1 protein, mouse
  • Tumor Suppressor Proteins