Others

A number of other syndromes have been described in which sensitivity to some form of DNA-damaging agent is seen:

♦ Tuberose sclerosis.

The relevance of clinical observation of sensitivity to the underlying genetic defect is still unclear. Perhaps a more interesting group of individuals are those (around 2-3%) who show undue sensitivity to conventional doses of ionizing radiation without any obvious pre-treatment phenotype apart from the presence of cancer. It is probable that the same individuals are also sensitive to chemotherapy that induces DNA damage. Investigation of such individuals has shown a variety of differing defects in DNA repair, cell cycle, and DNA damage signal transduction. Given this heterogeneity, it is likely that pre-treatment predictive tests will be developed at cellular—not molecular—level.

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