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- Title
Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.
- Authors
Nurminen, Riikka; Afyounian, Ebrahim; Paunu, Niina; Katainen, Riku; Isomäki, Mari; Nurminen, Anssi; Scaravilli, Mauro; Tolppanen, Jenni; Fey, Vidal; Kivinen, Anni; Helén, Pauli; Välimäki, Niko; Kesseli, Juha; Aaltonen, Lauri A.; Haapasalo, Hannu; Nykter, Matti; Rautajoki, Kirsi J.
- Abstract
Predisposing factors underlying familial aggregation of non-syndromic gliomas are still to be uncovered. Whole-exome sequencing was performed in four Finnish families with brain tumors to identify rare predisposing variants. A total of 417 detected exome variants and 102 previously reported glioma-related variants were further genotyped in 19 Finnish families with brain tumors using targeted sequencing. Rare damaging variants in GALNT13, MYO10 and AR were identified. Two families carried either c.553C>T (R185C) or c.1214T>A (L405Q) on GALNT13. Variant c.553C>T is located on the substrate-binding site of GALNT13. AR c.2180G>T (R727L), which is located on a ligand-binding domain of AR, was detected in two families, one of which also carried a GALNT13 variant. MYO10 c.4448A>G (N1483S) was detected in two families and c.1511C>T (A504V) variant was detected in one family. Both variants are located on functional domains related to MYO10 activity in filopodia formation. In addition, affected cases in six families carried a known glioma risk variant rs55705857 in CCDC26 and low-risk glioma variants. These novel findings indicate polygenic inheritance of familial glioma in Finland and increase our understanding of the genetic contribution to familial glioma susceptibility.
- Subjects
FINLAND; GLIOMAS; BRAIN tumors; MONOGENIC &; polygenic inheritance (Genetics); GERM cells; FILOPODIA
- Publication
Scientific Reports, 2024, Vol 11, Issue 1, p1
- ISSN
2045-2322
- Publication type
Article
- DOI
10.1038/s41598-024-62296-5