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Cellular and Molecular Life Sciences: CMLS logoLink to Cellular and Molecular Life Sciences: CMLS
. 2014 Apr 30;59(2):373–385. doi: 10.1007/s00018-002-8429-3

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

B Elliott 1, M Jasin 1
PMCID: PMC11146114  PMID: 11915950

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.

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

Footnotes

Received 19 June 2001; received after revision 6 September 2001; accepted 11 September 2001


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