Abstract
The ability to maintain genomic integrity in the face of DNA damage is critical for survival. Biological organisms are not merely passive targets of DNA-damaging agents but actively respond to DNA damage in a variety of ways, e.g., the SOS system in Escherichia coli (Battista et al. 1990). The means by which cells achieve this goal are complex and involve DNA repair, genetic recombination, alterations in the cell cycle, and programmed cell death. This article discusses the chromosome instability syndromes, human diseases in which these homeostatic processes have broken down, resulting in cancer, immunodeficiency, growth failure, neurologic abnormalities, and mutagen sensitivity. Genetic instability in these syndromes may result from changes in DNA topology, loss of cell cycle checkpoint control, or dysregulation of lymphokine-mediated signal-transduction pathways, illustrating the diverse nature of the cellular processes that can affect the integrity of the genome.
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Meyn, M.S. (1997). Chromosome Instability Syndromes: Lessons for Carcinogenesis. In: Kastan, M.B. (eds) Genetic Instability and Tumorigenesis. Current Topics in Microbiology and Immunology, vol 221. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-60505-5_6
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