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Transposable Elements in Cancer
Book chapter

Transposable Elements in Cancer

Sulev Kõks
Transposable Elements, Transcriptomics, and Diseases, pp.311-340
Epigenetics and Human Health, 14, Springer Nature Switzerland
2025

Abstract

Cancer Carcinogenesis Genomic variations Repetitive elements Transposable elements
Carcinogenesis is based on acquiring the mutations that will trigger and maintain the malignant cellular growth. According to the widely accepted concept, these mutations are single-nucleotide variants, and environmental factors mainly generate them. In this chapter, we describe an alternative understanding based on the human genome’s internal capacity to generate structural variants within the “dark matter” of the human genome. The “dark matter” of the genome contains transposable elements (TEs) that can transpose and generate mutations in the genomes. These de novo variants affect the functioning of the genome and are the leading cause of the aberrant transcription that is the basis of many, if not most, of the complex diseases. In this chapter, I focus on the impact of TEs on cancer development.

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