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

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

Cancer Rep (Hoboken)

DNA Laboratory, Department of Pediatric Neurology, 2nd Medical School, Charles University, University Hospital Motol, Prague, Czech Republic.

Published: February 2023

AI Article Synopsis

  • - Nijmegen breakage syndrome (NBS) is an inherited disorder caused by mutations in the NBN gene, leading to increased vulnerability to radiation and a higher chance of developing certain cancers, particularly in those from the Czech Republic and Slovakia compared to Poland.
  • - A study aimed to understand the differences in cancer onset and mortality among NBN homozygotes from these two regions, focusing on individuals born before the major political and healthcare changes in 1989.
  • - Results indicate that NBS patients in the Czech Republic and Slovakia develop cancer at a younger age than their Polish counterparts, likely due to variations in radiation exposure, which also suggests implications for cancer risk in heterozygous carriers and has benefits for genetic counseling.

Article 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 replacement of the communist regime by a democratic system in CS and Poland, and a substantial transition of the health care systems. Moreover, all patients were recruited without knowledge of their genetic status since the NBN gene was not identified until 1998.

Results: Here, we show that cancer manifestation of NBN homozygotes is at a significantly earlier age in probands from CS than from Poland. This is explained by the difference in natural and medical radiation exposure, though within the permissible dosage.

Conclusion: It is reasonable to assume that this finding also sheds light on the higher cancer risk of NBN heterozygotes in CS than in Poland. This has implications for genetic counseling and individualized medicine also of probands with other DNA repair defects.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9939984PMC
http://dx.doi.org/10.1002/cnr2.1700DOI Listing

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