Radiation Oncology/Cancer Syndromes/Xeroderma pigmentosum
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Xeroderma Pigmentosum
- Defect in nucleotide excision repair (NER) pathway
- Compromised ability to repair UV damage
- Multiple skin malignancies at a young age; most common causes of death are melanoma and skin squamous cell carcinoma
- Autosomal recessive
- Brighton, UK; 2008 PMID 18079351 -- "Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts." (Arlett CF, Br J Radiol. 2008 Jan;81(961):51-8.)