A rare hereditary defect of the enzyme system that repairs DNA after damage from ultraviolet rays, resulting in extreme sensitivity to sunlight and a tendency to develop skin cancer.
- Defects in NER are known in humans, in the form of the rare genetic disease xeroderma pigmentosum, which is characterized by extreme sun sensitivity and skin cancer incidence.
- The prevalence of CC TT transitions reported here is the highest observed in any cancer type and matches that of skin cancers in subjects with xeroderma pigmentosum, an inherited disease with hypersensitivity to UV damage.
- An inherited defect in one of the various proteins involved in nucleotide excision repair causes the disease xeroderma pigmentosum, and enormously increases the risk of skin cancer following sun exposure.
Late 19th century: pigmentosum, neuter of Latin pigmentosus 'pigmented'.
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