Neoplasia-associated Chromosome Translocations Resulting in Gene Truncation

Cancer Genomics Proteomics. 2022 Nov-Dec;19(6):647-672. doi: 10.21873/cgp.20349.


Chromosomal translocations in cancer as well as benign neoplasias typically lead to the formation of fusion genes. Such genes may encode chimeric proteins when two protein-coding regions fuse in-frame, or they may result in deregulation of genes via promoter swapping or translocation of the gene into the vicinity of a highly active regulatory element. A less studied consequence of chromosomal translocations is the fusion of two breakpoint genes resulting in an out-of-frame chimera. The breaks then occur in one or both protein-coding regions forming a stop codon in the chimeric transcript shortly after the fusion point. Though the latter genetic events and mechanisms at first awoke little research interest, careful investigations have established them as neither rare nor inconsequential. In the present work, we review and discuss the truncation of genes in neoplastic cells resulting from chromosomal rearrangements, especially from seemingly balanced translocations.

Keywords: Chromosome aberration; gene truncation; out-of-frame fusion transcript; review; translocation.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Gene Fusion
  • Humans
  • Neoplasms* / genetics
  • Promoter Regions, Genetic
  • Translocation, Genetic*