Cellular and Molecular Life Sciences CMLS

, Volume 59, Issue 2, pp 373–385 | Cite as

Human Genome and Diseases:¶Double-strand breaks and translocations in cancer

  • B. Elliott
  • M. Jasin
Article

Abstract.

The correct repair of double-strand breaks (DSBs) is essential for the genomic integrity of a cell, as inappropriate repair can lead to chromosomal rearrangements such as translocations. In many hematologic cancers and sarcomas, translocations are the etiological factor in tumorigenesis, resulting in either the deregulation of a proto-oncogene or the expression of a fusion protein with transforming properties. Mammalian cells are able to repair DSBs by pathways involving homologous recombination and nonhomologous end-joining. The analysis of translocation breakpoints in a number of cancers and the development of model translocation systems are beginning to shed light on specific DSB repair pathway(s) responsible for the improper repair of broken chromosomes.

Key words. Translocations; double-strand breaks; DNA repair pathways; cancer; recombination. 

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Copyright information

© Birkhäuser Verlag, 2002

Authors and Affiliations

  • B. Elliott
    • 1
  • M. Jasin
    • 1
  1. 1.Cell Biology Program, Memorial Sloan-Kettering Cancer Center and Cornell University, Graduate School of Medical Sciences, 1275 York Avenue, New York, New York 10021 (USA), Fax +1 212 717 3317, e-mail: m-jasin@ski.mskcc.orgUSA

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