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The French Cohort of DNA Repair-Deficient Xeroderma Pigmentosum Patients: Risk of Hematological Malignancies

10 May 2023

Abstract excerpt

BACKGROUND: Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by a high incidence of skin cancers. These patients are deficient in nucleotide excision repair caused by mutations in one of the 7 XP genes. METHODS: We diagnosed 181 XP patients using UV-induced DNA repair measurements and/or DNA sequencing from 1982 to 2022 in France. RESULTS: gene. The striking discovery is that these patients are...

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PMID: 37345043
DOI: 10.3390/cancers15102706

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