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

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 patien...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/ed016924109146f38844d6ecd8f06a5b
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spelling	oai:doaj.org-article:ed016924109146f38844d6ecd8f06a5b2021-12-02T15:53:43ZPrevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients10.1038/s41598-021-84502-42045-2322https://doaj.org/article/ed016924109146f38844d6ecd8f06a5b2021-03-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-84502-4https://doaj.org/toc/2045-2322Abstract 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.Kristoffer von StedingkKarl-Johan StjernfeltAnders KvistCecilia WahlströmUlf KristofferssonMarie Stenmark-AskmalmThomas WiebeLars HjorthJan KosterHåkan OlssonIngrid ØraNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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 Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
description	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 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.
format	article
author	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
author_facet	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
author_sort	Kristoffer von Stedingk
title	Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
title_short	Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
title_full	Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
title_fullStr	Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
title_full_unstemmed	Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients
title_sort	prevalence of germline pathogenic variants in 22 cancer susceptibility genes in swedish pediatric cancer patients
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/ed016924109146f38844d6ecd8f06a5b
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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients

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