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Concurrent L1 retrotransposition events promote reciprocal translocations in human tumorigenesis - PubMed

4 hours ago
  • #L1 retrotransposition
  • #chromosomal instability
  • #tumorigenesis
  • LINE-1 (L1) retrotransposition generates somatic genomic variation in human cancer.
  • Long-read sequencing of 10 tumors with high retrotransposition activity revealed over 6,000 somatic events.
  • L1-mediated reciprocal translocations frequently occur due to two concurrent L1 retrotransposition events on non-homologous chromosomes.
  • Retrotransposon-mediated rearrangements occur at a frequency of one event per 60 somatic retrotranspositions.
  • Molecular timing analyses show these events arise early in tumorigenesis, making L1 activity an early driver of chromosomal instability.
  • L1 significantly contributes to cancer genome evolution in certain tumors.