By Jon Foss-Skiftesvik, Christian Munch Hagen , René Mathiasen, Dea Adamsen, Marie Bækvad-Hansen, Anders D. Børglum, Merete Nordentoft, Thomas Werge, Michael Christiansen, Kjeld Schmiegelow, Marianne Juhler, Preben Bo Mortensen, David Michael Hougaard , Jonas Bybjerg-Grauholm
This article describes a population-based whole-genome association study (GWAS) that investigated genetic predisposition (in the form of frequently occurring genetic variants/SNPs) in children with different types of brain and spinal cord tumors. The project is a collaboration between SSI and RH with Jon Foss-Skiftesvik in 5C as the initiator. The project has established a cohort of Danish children diagnosed with brain and spinal cord tumors over a 30-year period. Based on this, we have examined approx. 1 million Genome-wide SNPs in approximately more than 1000 children with CNS tumors and over 4000 controls. Our findings indicate a degree of common predisposition across tumor types that arise in the central nervous system in childhood in relation to the PAPPA2 gene, which is part of the IGF axis. The findings require external validation, and we continue our work with studies of genetic causes of childhood brain cancer – both in the current cohort and others.
The article can be found via the following link: https://pubmed .ncbi.nlm.nih.gov/33226468/#affiliation-7
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