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Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts by Sergey Nikolaev; Andrey A. Yurchenko; Alain Sarasin is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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## Background: Xeroderma pigmentosum (xp) is a rare, autosomal, recessive dna repair-deficiency disorder with a frequency of 1-3 per million livebirths in europe and usa but with higher frequencies in isolated islands or in countries with a high level of consanguinity. xp is characterized by high incidence of skin cancers on sun-exposed sites. recent improvement in life expectancy of xp patients suggests an increased risk of frequently aggressive and lethal internal tumors. our purpose was to quantify relative risks of internal tumor development for xp patients by tumor type, xp-subtype, patients' ages and ethnicity through comparison with the us general population. ## Methods: We analyzed four independent international well-characterized xp cohorts (from usa, uk, france and brazil) with a total of 434 patients, where 11.3% developed internal tumors and compared them to the american general population. we also compiled, through pubmed/medline, a dataset of 89 internal tumors in xp patients published between 1958 and 2020. ## Results: In the combined 4-xp cohort, relative risk of internal tumors was 34 (95% confidence interval (ci) 25-47) times higher than in the general population

Who reads Increased risk of internal tumors in DNA repair-deficient xeroderma pigmentosum patients: analysis of four international cohorts?

Author

Sergey Nikolaev; Andrey A. Yurchenko; Alain Sarasin

Publisher

Springer Science and Business Media LLC

Published

2022

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)