StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	27426636	Gullett JC, Znoyko IY, Wolff DJ, Schandl CA	Chromothripsis in Two Patients With Renal Cell Carcinoma: A Case Series	Clin Genitourin Cancer	2017 Feb	7	Clear cell renal cell carcinoma	SNParray	Homo sapiens	27426636_patient1	Infinium HD Human Omni1 BeadChip				Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC	Clinical Practice Points: Chromothripsis has been described as the catastrophic shattering of a chromosomal region with inaccurate genomic reassembly. Although chromothripsis occurs in a number of other epithelial cell tumors, it has only rarely been reported in renal cell carcinoma (RCC). We describe 2 individuals in their sixth decade who presented to our institution with RCC and apparent chromothripsis identified by single nucleotide polymorphism whole genome microarray analysis. This result suggests that chromothripsis might be a more common mechanism leading to the development of RCC than previously known. Detection of chromothripsis in patients with RCC might, in part, dictate the prognosis and, ultimately, guide therapeutic decisions based on the typically poorer outcome and more advanced disease documented in other tumor types A specific treatment regimen for chromothripsisrelated tumors is not currently available. However, it is conceivable that molecularly targeted therapies might one day be used to exploit the underlying etiologies and subsequent effects of chromothripsis, because some of the innumerable cells and/or pathways affected might be more sensitive to particular drugs.	GRCh37/hg19				Yes	
Research	27426636	Gullett JC, Znoyko IY, Wolff DJ, Schandl CA	Chromothripsis in Two Patients With Renal Cell Carcinoma: A Case Series	Clin Genitourin Cancer	2017 Feb	12	Clear cell renal cell carcinoma	SNParray	Homo sapiens	27426636_patient2	Infinium HD Human Omni1 BeadChip				Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC	Clinical Practice Points: Chromothripsis has been described as the catastrophic shattering of a chromosomal region with inaccurate genomic reassembly. Although chromothripsis occurs in a number of other epithelial cell tumors, it has only rarely been reported in renal cell carcinoma (RCC). We describe 2 individuals in their sixth decade who presented to our institution with RCC and apparent chromothripsis identified by single nucleotide polymorphism whole genome microarray analysis. This result suggests that chromothripsis might be a more common mechanism leading to the development of RCC than previously known. Detection of chromothripsis in patients with RCC might, in part, dictate the prognosis and, ultimately, guide therapeutic decisions based on the typically poorer outcome and more advanced disease documented in other tumor types A specific treatment regimen for chromothripsisrelated tumors is not currently available. However, it is conceivable that molecularly targeted therapies might one day be used to exploit the underlying etiologies and subsequent effects of chromothripsis, because some of the innumerable cells and/or pathways affected might be more sensitive to particular drugs.	GRCh37/hg19				Yes