Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients

Kristoffer von Stedingk, Karl Johan Stjernfelt, Anders Kvist, Cecilia Wahlström, Ulf Kristoffersson, Marie Stenmark-Askmalm, Thomas Wiebe, Lars Hjorth, Jan Koster, Håkan Olsson, Ingrid Øra

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskriftPeer review

Sammanfattning

Up to 10% of pediatric cancer patients harbor pathogenic germline variants in one or more cancer susceptibility genes. A recent study from the US reported pathogenic variants in 22 out of 60 analyzed autosomal dominant cancer susceptibility genes, implicating 8.5% of pediatric cancer patients. Here we aimed to assess the prevalence of germline pathogenic variants in these 22 genes in a population-based Swedish cohort and to compare the results to those described in other populations. We found pathogenic variants in 10 of the 22 genes covering 3.8% of these patients. The prevalence of TP53 mutations was significantly lower than described in previous studies, which can largely be attributed to differences in tumor diagnosis distributions across the three cohorts. Matched family history for relatives allowed assessment of familial cancer incidence, however, no significant difference in cancer incidence was found in families of children carrying pathogenic variants compared to those who did not.

Originalspråkengelska
Artikelnummer5307
TidskriftScientific Reports
Volym11
Utgåva1
DOI
StatusPublished - 2021

Ämnesklassifikation (UKÄ)

  • Cancer och onkologi
  • Pediatrik

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