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.)