Evidence map›Paper›PMID 32106411›Full record

ReviewJournal of clinical medicine2020

Chromothripsis and DNA Repair Disorders.

Lusine Nazaryan-Petersen, Victoria Alexandra Bjerregaard, Finn Cilius Nielsen, Niels Tommerup, Zeynep Tümer

Open access · goldAbstract readReview
In one paragraph

Review in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.8field-weighted citation impact, top 15% 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

16 citing papers in PubMed, 33 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Chromothripsis.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
  5. Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Chromosomal instability in adult-type diffuse gliomas.Acta neuropathologica communications · 2022
    Review
  12. Review
  13. Insight into the Molecular Basis Underlying Chromothripsis.International journal of molecular sciences · 2022
    Review
  14. Review
  15. Article
  16. Extrachromosomal Circular DNA (eccDNA): From Chaos to Function.Frontiers in cell and developmental biology · 2021
    Review
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

5 authors at 3 institutions in 1 country.

Lusine Nazaryan-PetersenDepartment of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.
Victoria Alexandra BjerregaardKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.
Finn Cilius NielsenCenter for Genomic Medicine, Rigshospitalet, 2100 Copenhagen, Denmark.
Niels TommerupDepartment of Cellular and Molecular Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.
Zeynep TümerKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.
University of Copenhagen · DKCopenhagen University Hospital · DKRigshospitalet · DK

Funding

The Danish Council for Independent Research (DFF) 4183-00482B
6 · The paper itself

Abstract

Chromothripsis is a mutational mechanism leading to complex and relatively clustered chromosomal rearrangements, resulting in diverse phenotypic outcomes depending on the involved genomic landscapes. It may occur both in the germ and the somatic cells, resulting in congenital and developmental disorders and cancer, respectively. Asymptomatic individuals may be carriers of chromotriptic rearrangements and experience recurrent reproductive failures when two or more chromosomes are involved. Several mechanisms are postulated to underlie chromothripsis. The most attractive hypothesis involves chromosome pulverization in micronuclei, followed by the incorrect reassembly of fragments through DNA repair to explain the clustered nature of the observed complex rearrangements. Moreover, exogenous or endogenous DNA damage induction and dicentric bridge formation may be involved. Chromosome instability is commonly observed in the cells of patients with DNA repair disorders, such as ataxia telangiectasia, Nijmegen breakage syndrome, and Bloom syndrome. In addition, germline variations of

Indexed as

ataxia telangiectasia and Rad3-related (ATR)ataxia telangiectasia mutated (ATM)chromosome pulverizationchromothripsisDNA double-strand breaks (DSBs)DNA repairDNA repair disordersmicronucleistructural variantsTP53

Identifiers

PMID32106411
PMCPMC7141117
OpenAlexW3004018495

What Socratic 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 Socratic graph.