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:10.1038/s41467-020-17455-3

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

Affiliations

J. A. Kamp: Department of Human Genetics, Leiden University Medical Center
R. van Schendel: Department of Human Genetics, Leiden University Medical Center
I. W. Dilweg: Department of Human Genetics, Leiden University Medical Center
M. Tijsterman: Department of Human Genetics, Leiden University Medical Center

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.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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