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

von Stedingk, Kristoffer LU ; Stjernfelt, Karl Johan LU ; Kvist, Anders LU ; Wahlström, Cecilia LU ; Kristoffersson, Ulf LU ; Stenmark-Askmalm, Marie LU ; Wiebe, Thomas LU ; Hjorth, Lars LU ; Koster, Jan and Olsson, Håkan LU orcid , et al. (2021) In Scientific Reports 11(1).
Abstract

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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Scientific Reports
volume
11
issue
1
article number
5307
publisher
Nature Publishing Group
external identifiers
  • scopus:85102211163
  • pmid:33674644
ISSN
2045-2322
DOI
10.1038/s41598-021-84502-4
project
Cancer risk and predisposition in families with childhood cancer
language
English
LU publication?
yes
id
e20b112c-5539-49f1-a08a-a0f1c19261fe
date added to LUP
2021-03-16 10:17:49
date last changed
2024-06-13 09:00:19
@article{e20b112c-5539-49f1-a08a-a0f1c19261fe,
  abstract     = {{<p>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.</p>}},
  author       = {{von Stedingk, Kristoffer and Stjernfelt, Karl Johan and Kvist, Anders and Wahlström, Cecilia and Kristoffersson, Ulf and Stenmark-Askmalm, Marie and Wiebe, Thomas and Hjorth, Lars and Koster, Jan and Olsson, Håkan and Øra, Ingrid}},
  issn         = {{2045-2322}},
  language     = {{eng}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Scientific Reports}},
  title        = {{Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients}},
  url          = {{http://dx.doi.org/10.1038/s41598-021-84502-4}},
  doi          = {{10.1038/s41598-021-84502-4}},
  volume       = {{11}},
  year         = {{2021}},
}