Radiation Oncology/Cancer Syndromes/Xeroderma pigmentosum

Xeroderma Pigmentosum


 * Gene Review entry
 * Wikipedia entry
 * DNA Repair chapter


 * 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.)