The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.

ABSTRACT:

Background

Nijmegen breakage syndrome (NBS) is an autosomal-recessive chromosome instability disorder characterized by, among others, hypersensitivity to X-irradiation and an exceptionally high risk for lymphoid malignancy. The vast majority of NBS patients is homozygous for a common Slavic founder mutation, c.657del5, of the NBN gene, which is involved in the repair of DNA double-strand breaks (DSBs). The founder mutation also predisposes heterozygous carriers to cancer, apparently however, with a higher risk in the Czech Republic/Slovakia (CS) than in Poland.

Aim

To examine whether the age of cancer manifestation and cancer death of NBN homozygotes is different between probands from CS and Poland.

Methods

The study is restricted to probands born until 1989, before r

SUBMITTER: Chrzanowska KH 

PROVIDER: S-EPMC9939984 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature