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Related Experiment Video

Updated: Jun 2, 2026

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells

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Transposable elements in human cancer: Regulation, activation, and genomic consequences.

Layla Diaz-Portal¹, Jesús Emiliano Sotelo-Fonseca¹, Bernardo Rodriguez-Martin¹

¹Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain; Universitat Pompeu Fabra (UPF), Barcelona, Spain.

Advances in Genetics

|June 1, 2026

Summary

LINE-1 (L1) elements are mobile DNA sequences active in cancer, disrupting genomes and impacting immunity. Their reactivation in tumors offers new biomarker and therapeutic strategies.

Keywords:

Transposable elements, LINE-1 regulation, cancer, genome variation

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Published on: June 28, 2018

Area of Science:

Genomics
Cancer Biology
Molecular Oncology

Background:

Transposable elements (TEs), particularly LINE-1 (L1) elements, are mobile DNA sequences crucial in human genome evolution.
Somatic activity of L1 elements is a significant driver in various cancers, especially epithelial cancers.
L1 activity is normally suppressed but can be reactivated in cancer due to epigenetic and genetic changes.

Purpose of the Study:

To investigate the role and consequences of somatic L1 retrotransposition in cancer development.
To explore the potential of L1 activity as a biomarker and therapeutic target.
To understand the link between L1 activity and the tumor immune microenvironment.

Main Methods:

Analysis of somatic L1 insertions and activity across different cancer types.
Investigation of genomic alterations caused by L1 retrotransposition.
Evaluation of TE-derived molecules in activating innate immune pathways.

Main Results:

Somatic L1 retrotransposition is abundant in esophageal, head/neck, colorectal, and lung squamous cell carcinomas.
L1 insertions contribute to gene disruption, altered regulatory landscapes, and chromosomal rearrangements, increasing genomic instability.
TE-derived products can activate innate immunity, connecting retrotransposon activity to cancer immunity.

Conclusions:

Tumor-type-specific L1 activity patterns and genomic consequences present opportunities for novel biomarkers.
Targeting L1 activation may offer new therapeutic strategies in cancer treatment.
L1 elements can modulate the tumor immune microenvironment, influencing cancer progression and treatment response.