Evidence map›Paper›PMID 32024999›Full record

ArticleNature genetics2020

Disruption of chromatin folding domains by somatic genomic rearrangements in human cancer.

Kadir C Akdemir, Victoria T Le, Sahaana Chandran, Yilong Li, Roel G Verhaak, Rameen Beroukhim, Peter J Campbell, Lynda Chin, Jesse R Dixon, P Andrew Futreal and 2 more

Erratum issuedAbstract read
In one paragraph

Article in Nature genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 183 papers.

0numbers the graph read from it
0cells of the map it votes in
183citing papers in PubMed
–field-weighted citation impact
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

183 citing papers in PubMed.

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors.

Kadir C AkdemirDepartment of Genomic Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Victoria T LeSalk Institute for Biological Studies, La Jolla, CA, USA.
Sahaana ChandranSalk Institute for Biological Studies, La Jolla, CA, USA.
Yilong LiWellcome Trust Sanger Institute, Cambridge, UK.
Roel G VerhaakDivision of Computational Biology, The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Rameen BeroukhimDepartment of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA.
Peter J CampbellWellcome Trust Sanger Institute, Cambridge, UK.
Lynda ChinInstitute for Health Transformation University of Texas, Houston, TX, USA.
Jesse R DixonSalk Institute for Biological Studies, La Jolla, CA, USA.
P Andrew FutrealDepartment of Genomic Medicine, University of Texas MD Anderson Cancer Center, Houston, TX, USA. afutreal@mdanderson.org.ORCID http://orcid.org/0000-0001-8663-2671
PCAWG Structural Variation Working Group
PCAWG Consortium

Funding

Tumor Evolution and Metastasis ProgramP30CA016672 · NCI · UNIVERSITY OF TX MD ANDERSON CAN CTR · PI Fabien Delerue · 1985 to 2026
$290.8M
Viral Vector Core (VVC)P30CA014195 · NCI · SALK INSTITUTE FOR BIOLOGICAL STUDIES · PI Reuben Shaw · 1985 to 2026
$82.8M
UNC-CH CENTER FOR ENVIRONMENTAL HEALTH &SUSCEPTIBILITYP30ES010126 · NIEHS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI Stephanie Engel · 2001 to 2026
$36.3M
DNA Damage Response and Repair of a Broken ChromosomeR35GM127029 · NIGMS · BRANDEIS UNIVERSITY · PI JAMES E HABER · 2018 to 2026
$8.6M
ANALYSIS OF BRCA1 RECOMBINATION FUNCTIONSR01CA095175 · NCI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SCULLY, RALPH · 2002 to 2021
$4.9M
Mechanisms of formation of 3D genome structuresDP5OD023071 · OD · SALK INSTITUTE FOR BIOLOGICAL STUDIES · PI DIXON, JESSE R · 2016 to 2020
$2.4M
FANCM in repair of stalled replication forksR01CA217991 · NCI · BETH ISRAEL DEACONESS MEDICAL CENTER · PI SCULLY, RALPH · 2017 to 2021
$2.0M
Cancer Research UK 23924NCI NIH HHS P30 CA014195NCI NIH HHS P30 CA016672NCI NIH HHS R01 CA095175NCI NIH HHS R01 CA217991NIEHS NIH HHS P30 ES010126NIGMS NIH HHS R35 GM127029NIH HHS DP5 OD023071
6 · The paper itself

Abstract

Chromatin is folded into successive layers to organize linear DNA. Genes within the same topologically associating domains (TADs) demonstrate similar expression and histone-modification profiles, and boundaries separating different domains have important roles in reinforcing the stability of these features. Indeed, domain disruptions in human cancers can lead to misregulation of gene expression. However, the frequency of domain disruptions in human cancers remains unclear. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), which aggregated whole-genome sequencing data from 2,658 cancers across 38 tumor types, we analyzed 288,457 somatic structural variations (SVs) to understand the distributions and effects of SVs across TADs. Notably, SVs can lead to the fusion of discrete TADs, and complex rearrangements markedly change chromatin folding maps in the cancer genomes. Notably, only 14% of the boundary deletions resulted in a change in expression in nearby genes of more than twofold.

Indexed as

Genomic Structural VariationChromatinGene Expression Regulation, NeoplasticGene RearrangementGenome, HumanHumansNeoplasmsChromatin

Identifiers

PMID32024999
PMCPMC7058537

What OpenQuestion holds

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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.