Gene Rearrangements

Cancer is a collection of diseases caused by a wide range of molecular lesions (or mutations). One important class of mutation, called gene fusions, is a common cause of many cancers. Fusion genes form during transcription by one of three mechanisms:

  • translocation,
  • gene deletion, or
  • chromosomal inversion.

Many gene fusions form without having a noticeable effect on human function.  However, several gene fusions have been identified that lead to cancer.  These cancer-causing gene fusions are referred to as “driver mutations.” One example of a gene fusion is the TMPRSS2:ERGa fusion gene which is found in approximately 50% of prostate cancers.  Figure 1 (below) depicts how the TMPRSS2:ERGa fusion is formed from the TMPRSS2 and ERG genes.


Figure 1:  Formation of the TMPRSS2:ERGa gene fusion. ( Science. 2005 Oct 28;310(5748):644-8.)

By successfully identifying the molecular mechanism of gene rearrangements, we hope to provide personalized therapy in the near future.