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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.
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.
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