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

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

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.

Bibliographic Details
Main Authors: J. A. Kamp, R. van Schendel, I. W. Dilweg, M. Tijsterman
Format: Article
Language:English
Published: Nature Publishing Group 2020-07-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-020-17455-3
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spelling doaj-7e9ffb55af7f4b2f9a5cfebaf60ef6ca2021-07-18T11:44:45ZengNature Publishing GroupNature Communications2041-17232020-07-0111111010.1038/s41467-020-17455-3BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joiningJ. A. Kamp0R. van Schendel1I. W. Dilweg2M. Tijsterman3Department of Human Genetics, Leiden University Medical CenterDepartment of Human Genetics, Leiden University Medical CenterDepartment of Human Genetics, Leiden University Medical CenterDepartment of Human Genetics, Leiden University Medical CenterCancer 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.https://doi.org/10.1038/s41467-020-17455-3
collection DOAJ
language English
format Article
sources DOAJ
author J. A. Kamp
R. van Schendel
I. W. Dilweg
M. Tijsterman
spellingShingle J. A. Kamp
R. van Schendel
I. W. Dilweg
M. Tijsterman
BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
Nature Communications
author_facet J. A. Kamp
R. van Schendel
I. W. Dilweg
M. Tijsterman
author_sort J. A. Kamp
title BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
title_short BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
title_full BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
title_fullStr BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
title_full_unstemmed BRCA1-associated structural variations are a consequence of polymerase theta-mediated end-joining
title_sort brca1-associated structural variations are a consequence of polymerase theta-mediated end-joining
publisher Nature Publishing Group
series Nature Communications
issn 2041-1723
publishDate 2020-07-01
description 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.
url https://doi.org/10.1038/s41467-020-17455-3
work_keys_str_mv AT jakamp brca1associatedstructuralvariationsareaconsequenceofpolymerasethetamediatedendjoining
AT rvanschendel brca1associatedstructuralvariationsareaconsequenceofpolymerasethetamediatedendjoining
AT iwdilweg brca1associatedstructuralvariationsareaconsequenceofpolymerasethetamediatedendjoining
AT mtijsterman brca1associatedstructuralvariationsareaconsequenceofpolymerasethetamediatedendjoining
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