TY  - JOUR
AU  - Stichel, Damian
AU  - Schrimpf, Daniel
AU  - Sievers, Philipp
AU  - Reinhardt, Annekathrin
AU  - Suwala, Abigail K
AU  - Sill, Martin
AU  - Reuss, David E
AU  - Korshunov, Andrey
AU  - Casalini, Belén M
AU  - Sommerkamp, Alexander C
AU  - Ecker, Jonas
AU  - Selt, Florian
AU  - Sturm, Dominik
AU  - Gnekow, Astrid
AU  - Koch, Arend
AU  - Simon, Michèle
AU  - Hernáiz Driever, Pablo
AU  - Schüller, Ulrich
AU  - Capper, David
AU  - van Tilburg, Cornelis M
AU  - Witt, Olaf
AU  - Milde, Till
AU  - Pfister, Stefan M
AU  - Jones, David T W
AU  - von Deimling, Andreas
AU  - Sahm, Felix
AU  - Wefers, Annika
TI  - Accurate calling of KIAA1549-BRAF fusions from DNA of human brain tumours using methylation array-based copy number and gene panel sequencing data.
JO  - Neuropathology & applied neurobiology
VL  - 47
IS  - 3
SN  - 1365-2990
CY  - Oxford [u.a.]
PB  - Wiley-Blackwell
M1  - DKFZ-2020-02932
SP  - 406-414
PY  - 2021
N1  - #EA:B300#LA:B300#2021 Apr;47(3):406-414
AB  - KIAA1549-BRAF fusions occur in certain brain tumours and provide druggable targets due to a constitutive activation of the MAP-kinase pathway. We introduce workflows for calling the KIAA1549-BRAF fusion from DNA methylation-array-derived copy number as well as DNA panel sequencing data.Copy number profiles were analysed by automated screening and visual verification of a tandem duplication on chromosome 7q34, indicative of the KIAA1549-BRAF fusion. Pilocytic astrocytomas of the ICGC cohort with known fusion status were used for validation. KIAA1549-BRAF fusions were called from DNA panel sequencing data using the fusion callers Manta, Arriba with modified filtering criteria and deFuse. We screened DNA methylation and panel sequencing data of 7790 specimens from brain tumour and sarcoma entities.We identified the fusion in 337 brain tumours with both DNA methylation and panel sequencing data. Among these, we detected the fusion from copy number data in 84
KW  -  KIAA1549-BRAF  (Other)
KW  - Arriba (Other)
KW  - DNA methylation (Other)
KW  - DNA panel sequencing (Other)
KW  - gene fusion (Other)
KW  - pilocytic astrocytoma (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33336421
DO  - DOI:10.1111/nan.12683
UR  - https://inrepo02.dkfz.de/record/166489
ER  -