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Nat Rev Genet. 2009 Nov;10(11):756-68. doi: 10.1038/nrg2663. Epub 2009 Oct 7.

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

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Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California 94143-0981, USA.


Mutations in genes on the nucleotide excision repair pathway are associated with diseases, such as xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, that involve skin cancer and developmental and neurological symptoms. These mutations cause the defective repair of damaged DNA and increased transcription arrest but, except for skin cancer, the links between repair and disease have not been obvious. Widely different clinical syndromes seem to result from mutations in the same gene, even when the mutations result in complete loss of function. The mapping of mutations in recently solved protein structures has begun to clarify the links between the molecular defects and phenotypes, but the identification of additional sources of clinical variability is still necessary.

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