Evidence map›Paper›PMID 32385320›Full record

ArticleNature communications2020

The landscape of chromothripsis across adult cancer types.

Natalia Voronina, John K L Wong, Daniel Hübschmann, Mario Hlevnjak, Sebastian Uhrig, Christoph E Heilig, Peter Horak, Simon Kreutzfeldt, Andreas Mock, Albrecht Stenzinger and 20 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 86 papers.

0numbers the graph read from it
0cells of the map it votes in
86citing papers in PubMed
10.9field-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

86 citing papers in PubMed, 189 citations in OpenAlex.

  1. Trial
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  9. Low-Grade Fibro-Osseous Lesions With Isolated Chromosome 12 Chromothripsis: A Distinct Entity Or a Low-Grade Central Osteosarcoma With a Novel Driver?Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2026
    Article
  10. Article
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  12. Leiomyosarcoma Therapeutic Approaches and Future Directions.Hematology/oncology clinics of North America · 2025
    Review
  13. Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Chromothripsis in cancer.Nature reviews. Cancer · 2025
    Review
  19. Article
  20. Review

26 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

30 authors at 4 institutions in 2 countries.

Natalia Voronina *Group Genome Instability in Tumors, DKFZ, Heidelberg, Germany.
John K L Wong *Division of Molecular Genetics, DKFZ, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-6362-373X
Daniel HübschmannGerman Cancer Consortium (DKTK), Heidelberg, Germany.
Mario HlevnjakDivision of Molecular Genetics, DKFZ, Heidelberg, Germany.
Sebastian UhrigComputational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases, DKFZ, Heidelberg, Germany.
Christoph E HeiligGerman Cancer Consortium (DKTK), Heidelberg, Germany.ORCID http://orcid.org/0000-0001-8869-1421
Peter HorakGerman Cancer Consortium (DKTK), Heidelberg, Germany.ORCID http://orcid.org/0000-0003-4536-9306
Simon KreutzfeldtGerman Cancer Consortium (DKTK), Heidelberg, Germany.ORCID http://orcid.org/0000-0003-3278-4586
Andreas MockGerman Cancer Consortium (DKTK), Heidelberg, Germany.ORCID http://orcid.org/0000-0002-3332-9166
Albrecht StenzingerInstitute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
Barbara HutterComputational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases, DKFZ, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-9034-0329
Martina FröhlichComputational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases, DKFZ, Heidelberg, Germany.
Benedikt BrorsDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-5940-3101
Arne JahnInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, ERN-GENTURIS, Hereditary Cancer Syndrome Center Dresden, German Cancer Consortium (DKTK), Dresden, Germany.
Barbara KlinkInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, ERN-GENTURIS, Hereditary Cancer Syndrome Center Dresden, German Cancer Consortium (DKTK), Dresden, Germany.ORCID http://orcid.org/0000-0002-8753-8238
Laura GieldonGerman Cancer Consortium (DKTK), Heidelberg, Germany.ORCID http://orcid.org/0000-0002-8700-8616
Lina SieverlingDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, Heidelberg, Germany.
Lars FeuerbachDivision of Applied Bioinformatics, DKFZ and NCT Heidelberg, Heidelberg, Germany.ORCID http://orcid.org/0000-0003-1503-437X
Priya ChudasamaPrecision Sarcoma Research Group, DKFZ, National Center for Tumor (NCT) Diseases, Heidelberg, Germany.
Katja BeckGerman Cancer Consortium (DKTK), Heidelberg, Germany.
Matthias KroissDepartment of Internal Medicine I, Division of Endocrinology and Diabetology, University Hospital Würzburg, Würzburg, Germany.ORCID http://orcid.org/0000-0002-7628-3161
Christoph HeiningDepartment of Translational Medical Oncology, NCT Dresden, Dresden, and DKFZ, Dresden, Germany.
Lino MöhrmannDepartment of Translational Medical Oncology, NCT Dresden, Dresden, and DKFZ, Dresden, Germany.ORCID http://orcid.org/0000-0003-4650-6827
Andrea FischerInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, ERN-GENTURIS, Hereditary Cancer Syndrome Center Dresden, German Cancer Consortium (DKTK), Dresden, Germany.ORCID http://orcid.org/0000-0001-5533-5471
Evelin SchröckInstitute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, ERN-GENTURIS, Hereditary Cancer Syndrome Center Dresden, German Cancer Consortium (DKTK), Dresden, Germany.
Hanno GlimmDepartment of Translational Medical Oncology, NCT Dresden, Dresden, and DKFZ, Dresden, Germany.
Marc ZapatkaDivision of Molecular Genetics, DKFZ, Heidelberg, Germany.ORCID http://orcid.org/0000-0001-8287-5967
Peter LichterDivision of Molecular Genetics, DKFZ, Heidelberg, Germany.ORCID http://orcid.org/0000-0002-2960-5279
Stefan FröhlingGerman Cancer Consortium (DKTK), Heidelberg, Germany.
Aurélie ErnstGroup Genome Instability in Tumors, DKFZ, Heidelberg, Germany. a.ernst@dkfz.de.
German Cancer Research Center · DEHeidelberg University · DEGerman Cancer Society · DEUniversitätsklinikum Würzburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chromothripsis is a recently identified mutational phenomenon, by which a presumably single catastrophic event generates extensive genomic rearrangements of one or a few chromosome(s). Considered as an early event in tumour development, this form of genome instability plays a prominent role in tumour onset. Chromothripsis prevalence might have been underestimated when using low-resolution methods, and pan-cancer studies based on sequencing are rare. Here we analyse chromothripsis in 28 tumour types covering all major adult cancers (634 tumours, 316 whole-genome and 318 whole-exome sequences). We show that chromothripsis affects a substantial proportion of human cancers, with a prevalence of 49% across all cases. Chromothripsis generates entity-specific genomic alterations driving tumour development, including clinically relevant druggable fusions. Chromothripsis is linked with specific telomere patterns and univocal mutational signatures in distinct tumour entities. Longitudinal analysis of chromothriptic patterns in 24 matched tumour pairs reveals insights in the clonal evolution of tumours with chromothripsis.

Indexed as

ChromothripsisAdultGenome, HumanGenomic InstabilityHumansNeoplasmsTelomere

Identifiers

PMID32385320
PMCPMC7210959
OpenAlexW3022927847

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.