Evidence map›Paper›PMID 32358516›Full record

ArticleNature communications2020

Mutational signatures are jointly shaped by DNA damage and repair.

Nadezda V Volkova, Bettina Meier, Víctor González-Huici, Simone Bertolini, Santiago Gonzalez, Harald Vöhringer, Federico Abascal, Iñigo Martincorena, Peter J Campbell, Anton Gartner and 1 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 146 papers.

0numbers the graph read from it
0cells of the map it votes in
146citing papers in PubMed
24.7field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

146 citing papers in PubMed, 218 citations in OpenAlex.

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  11. The aging genome exhibits organized vulnerability to somatic mutations.bioRxiv : the preprint server for biology · 2026
    Article
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  16. Topographical archetypes of somatic mutagenesis in cancer.bioRxiv : the preprint server for biology · 2026
    Article
  17. Article
  18. Article
  19. Article
  20. Review

86 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 4 countries.

Nadezda V Volkova *European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, CB10, 1SD, UK.ORCID http://orcid.org/0000-0003-3368-3920
Bettina Meier *Centre for Gene Regulation and Expression, University of Dundee, Dundee, DD1 5EH, Scotland.
Víctor González-Huici *Centre for Gene Regulation and Expression, University of Dundee, Dundee, DD1 5EH, Scotland.
Simone BertoliniCentre for Gene Regulation and Expression, University of Dundee, Dundee, DD1 5EH, Scotland.
Santiago GonzalezEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, CB10, 1SD, UK.ORCID http://orcid.org/0000-0001-5685-4580
Harald VöhringerEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, CB10, 1SD, UK.
Federico AbascalCancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.ORCID http://orcid.org/0000-0002-6201-1587
Iñigo MartincorenaCancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.
Peter J CampbellCancer, Ageing and Somatic Mutation, Wellcome Sanger Institute, Hinxton, CB10 1SA, UK.ORCID http://orcid.org/0000-0002-3921-0510
Anton GartnerCentre for Gene Regulation and Expression, University of Dundee, Dundee, DD1 5EH, Scotland. tgartner@ibs.re.kr.ORCID http://orcid.org/0000-0003-4639-9902
Moritz GerstungEuropean Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, CB10, 1SD, UK. moritz.gerstung@ebi.ac.uk.ORCID http://orcid.org/0000-0001-6709-963X
European Bioinformatics Institute · GBUniversity of Dundee · GBWellcome Sanger Institute · GBUniversity of Cambridge · GB

Funding

Enhancing and expanding the CGC Strain CollectionP40OD010440 · OD · UNIVERSITY OF MINNESOTA · PI Ann E. Rougvie · 2012 to 2026
$7.5M
Cancer Research UK 21777Cancer Research UK C11852/A14695NIH HHS P40 OD010440Wellcome TrustWellcome Trust 090944/Z/09/ZWellcome Trust RG70175
6 · The paper itself

Abstract

Cells possess an armamentarium of DNA repair pathways to counter DNA damage and prevent mutation. Here we use C. elegans whole genome sequencing to systematically quantify the contributions of these factors to mutational signatures. We analyse 2,717 genomes from wild-type and 53 DNA repair defective backgrounds, exposed to 11 genotoxins, including UV-B and ionizing radiation, alkylating compounds, aristolochic acid, aflatoxin B1, and cisplatin. Combined genotoxic exposure and DNA repair deficiency alters mutation rates or signatures in 41% of experiments, revealing how different DNA alterations induced by the same genotoxin are mended by separate repair pathways. Error-prone translesion synthesis causes the majority of genotoxin-induced base substitutions, but averts larger deletions. Nucleotide excision repair prevents up to 99% of point mutations, almost uniformly across the mutation spectrum. Our data show that mutational signatures are joint products of DNA damage and repair and suggest that multiple factors underlie signatures observed in cancer genomes.

Indexed as

AnimalsCaenorhabditis elegansDNA DamageDNA RepairGenomicsHumansMutationPoint Mutation

Identifiers

PMID32358516
PMCPMC7195458
OpenAlexW3022071200

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.