Evidence map›Paper›PMID 38272908›Full record

ArticleNature communications2024

Transposable elements mediate genetic effects altering the expression of nearby genes in colorectal cancer.

Nikolaos M R Lykoskoufis, Evarist Planet, Halit Ongen, Didier Trono, Emmanouil T Dermitzakis

Registry-linked trialAbstract read
In one paragraph

Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT07035691 (Plasma Biomarkers in Stratifying Patients Referred Via the Lower Gastro-intestinal), which is not on this map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing 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.

NCT07035691 recruitingnot on this mapstarted 2025, after this paper: background citation

Plasma Biomarkers in Stratifying Patients Referred Via the Lower Gastro-intestinal (LGI) Suspected Cancer Two-week Wait (2WW) Pathway

TypeobservationalSponsorQueen Mary University of LondonRan2025 to 2026Enrolled582ConditionsColorectal Carcinoma, Polyp, Colorectal Adenoma
3 · Its place in the literature

Who cites it

12 citing papers in PubMed.

  1. Article
  2. Article
  3. Integration of epigenetics into ecotoxicology: insights and fundamental research needs.Biological reviews of the Cambridge Philosophical Society · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Article
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.

Nikolaos M R LykoskoufisDepartment of Genetic Medicine and Development, University of Geneva Medical School, 1211, Geneva, Switzerland. nikolaos.lykoskoufis@gmail.com.ORCID 0000-0001-6751-7010
Evarist PlanetSchool of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015, Lausanne, Switzerland.
Halit Ongen *Department of Genetic Medicine and Development, University of Geneva Medical School, 1211, Geneva, Switzerland.ORCID 0000-0002-4197-5790
Didier Trono *School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015, Lausanne, Switzerland.ORCID 0000-0002-3383-0401
Emmanouil T Dermitzakis *Department of Genetic Medicine and Development, University of Geneva Medical School, 1211, Geneva, Switzerland. emmanouil.dermitzakis@unige.ch.ORCID 0000-0002-9302-6490

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Transposable elements (TEs) are prevalent repeats in the human genome, play a significant role in the regulome, and their disruption can contribute to tumorigenesis. However, TE influence on gene expression in cancer remains unclear. Here, we analyze 275 normal colon and 276 colorectal cancer samples from the SYSCOL cohort, discovering 10,231 and 5,199 TE-expression quantitative trait loci (eQTLs) in normal and tumor tissues, respectively, of which 376 are colorectal cancer specific eQTLs, likely due to methylation changes. Tumor-specific TE-eQTLs show greater enrichment of transcription factors, compared to shared TE-eQTLs suggesting specific regulation of their expression in tumor. Bayesian networks reveal 1,766 TEs as mediators of genetic effects, altering the expression of 1,558 genes, including 55 known cancer driver genes and show that tumor-specific TE-eQTLs trigger the driver capability of TEs. These insights expand our knowledge of cancer drivers, deepening our understanding of tumorigenesis and presenting potential avenues for therapeutic interventions.

Indexed as

Colorectal NeoplasmsDNA Transposable ElementsBayes TheoremCarcinogenesisHumansTranscription FactorsDNA Transposable ElementsTranscription Factors

Identifiers

PMID38272908
PMCPMC10811328

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Registered trials

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.