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

ABSTRACT:

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)

SUBMITTER: Nikolaev S 

PROVIDER: S-EPMC8896305 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature