Project name: OncoScan CNV SNP array data for MNG/PTC samples

Description: Genome-wide copy number analysis using SNP-arrays (OncoScans) in multinodular goitres from individuals with the c.1552G>A;p.E518K mutation in DGCR8 show allelic imbalance at Chr22 in all samples. Likewise this event is confirmed in papillary thyroid tumors harboring the same alteration somatically. The only alteration common in all MNG and FvPTC samples was the allelic imbalance at the Chr22 in line with all samples showing an homozygous genotype at the DGCR8 locusOverall design: OncoScan CNV arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved blood and FFPE tumor samples.Copy number analysis of OncoScan CNV array data was performed.

Data type: Variation

Sample scope: Multiisolate

Relevance: Medical

Last updated: 2019-08-05