StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	23615946	Teles Alves I, Hiltemann S, Hartjes T, van der Spek P, Stubbs A, Trapman J, Jenster G	Gene fusions by chromothripsis of chromosome 5q in the VCaP prostate cancer cell line	Hum Genet	2013 Apr	5	Prostate cancer	Next Generation Sequencing	Homo 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VCaP cell line is widely used in prostate cancer research as it is a unique model to study castrate resistant disease expressing high levels of the wild type androgen receptor and the TMPRSS2-ERG fusion transcript. Using next generation sequencing, we assembled the structural variations in VCaP genomic DNA and observed a massive number of genomic rearrangements along the q arm of chromosome 5, characteristic of chromothripsis. Chromothripsis is a recently recognized phenomenon characterized by extensive chromosomal shattering in a single catastrophic event, mainly detected in cancer cells. Various structural events identified on chromosome 5q of VCaP resulted in gene fusions. Out of the 18 gene fusion candidates tested, 15 were confirmed on genomic level. In our set of gene fusions, only rarely we observe microhomology flanking the breakpoints. On RNA level, only five transcripts were detected and NDUFAF2-MAST4 was the only resulting in an in-frame fusion transcript. Our data indicate that although a marker of genomic instability, chromothripsis might lead to only a limited number of functionally relevant fusion genes.	NCBI 36/hg18					CPLX2,UBXD8;EBF1,FBXL17;EBF1,FEM1C;EFNA5,PCDHB7;JMY,DMGDH;KCNN2,EBF1;LMAN2,AP3S1;NDUFAF2,MAST4;PDE4D,C5orf47;PDE4D,FAM172A;PDE4D,PPP2R2B;PDE8B,UIMC1;PPP2R2B,FAM172A;RASGRF2,RNF145;TMPRSS2,ERG;TRIM40,FBXO38;YTHDC2,PPP2R2B;ZFP62,RGNEF