Nature Communications (Jul 2020)

BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining

  • J. A. Kamp,
  • R. van Schendel,
  • I. W. Dilweg,
  • M. Tijsterman

DOI
https://doi.org/10.1038/s41467-020-17455-3
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 10

Abstract

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Cancer mutational signatures have been associated with defects in genome maintenance pathways. Here the authors, by using a worm germline mutagenesis model defective of human orthologue BRCA-1, identify polymerase theta-mediated end-joining (TMEJ) as causing the BRCAness mutational signature.