Evidence map›Paper›PMID 27197217›Full record

ArticleGenome research2016

A hot L1 retrotransposon evades somatic repression and initiates human colorectal cancer.

Emma C Scott, Eugene J Gardner, Ashiq Masood, Nelson T Chuang, Paula M Vertino, Scott E Devine

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 179 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
179citing papers in PubMed, 1 pooled it
–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

179 citing papers in PubMed, 1 synthesis or guideline pooled it, 312 citations in OpenAlex.

  1. Pooled it
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  3. Review
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  7. Review
  8. Article
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  11. Article
  12. LINE-1 retrotransposition is a recurrent cause ofbioRxiv : the preprint server for biology · 2026
    Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Transposon Regulation in thebioRxiv : the preprint server for biology · 2025
    Article
  20. Article

119 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

6 authors at 2 institutions in 1 country.

Emma C ScottGraduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;
Eugene J GardnerGraduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;
Ashiq MasoodInstitute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Greenebaum Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;
Nelson T ChuangGraduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Division of Gastroenterology, Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;
Paula M VertinoDepartment of Radiation Oncology, Emory University School of Medicine, Atlanta, Georgia 30322, USA; Winship Cancer Institute, Emory University, Atlanta, Georgia 30322, USA.
Scott E DevineGraduate Program in Molecular Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Institute for Genome Sciences, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Greenebaum Cancer Center, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA; Department of Medicine, University of Maryland School of Medicine, Baltimore, Maryland 21201, USA;
University of Maryland, Baltimore · USEmory University · US

Funding

Research Training in Gastroenterology and HepatologyT32DK067872 · NIDDK · UNIVERSITY OF MARYLAND BALTIMORE · PI RAUFMAN, JEAN-PIERRE · 2005 to 2024
$7.2M
Training Grant in Cancer BiologyT32CA154274 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI Toni M Antalis, CURT I CIVIN · 2011 to 2026
$6.8M
Natural Genetic Variation in the Human GenomeR01HG002898 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI DEVINE, SCOTT E · 2004 to 2019
$3.7M
GENESIS AND CONSEQUENCES OF ABERRANT DNA METHYLATIONR01CA077337 · NCI · EMORY UNIVERSITY · PI VERTINO, PAULA M. · 1998 to 2016
$3.4M
Natural mutagenesis of human genomes by endogenous retrotransposonsR01CA166661 · NCI · UNIVERSITY OF MARYLAND BALTIMORE · PI DEVINE, SCOTT E · 2012 to 2016
$1.6M
NCI NIH HHS R01 CA077337NCI NIH HHS R01 CA166661NCI NIH HHS T32 CA154274NHGRI NIH HHS R01 HG002898NIDDK NIH HHS T32 DK067872
6 · The paper itself

Abstract

Although human LINE-1 (L1) elements are actively mobilized in many cancers, a role for somatic L1 retrotransposition in tumor initiation has not been conclusively demonstrated. Here, we identify a novel somatic L1 insertion in the APC tumor suppressor gene that provided us with a unique opportunity to determine whether such insertions can actually initiate colorectal cancer (CRC), and if so, how this might occur. Our data support a model whereby a hot L1 source element on Chromosome 17 of the patient's genome evaded somatic repression in normal colon tissues and thereby initiated CRC by mutating the APC gene. This insertion worked together with a point mutation in the second APC allele to initiate tumorigenesis through the classic two-hit CRC pathway. We also show that L1 source profiles vary considerably depending on the ancestry of an individual, and that population-specific hot L1 elements represent a novel form of cancer risk.

Indexed as

Gene Expression Regulation, NeoplasticMutagenesis, InsertionalAdenocarcinomaAdenomatous Polyposis Coli ProteinCarcinogenesisColorectal NeoplasmsDNA Mutational AnalysisFemaleGene SilencingHumansMicrosatellite InstabilityMiddle AgedRetroelementsAdenomatous Polyposis Coli ProteinAPC protein, humanRetroelements

Identifiers

PMID27197217
PMCPMC4889970
OpenAlexW2378183100

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.