StudyType	PubMedID	Author	Title	Journal	PublishDate	Chromosome	Disease	Technology	Species	CaseID	Platform	CNA	Connection	Gene	Affiliation	Abstract	GenomeAssembly	GEO	dbGaP	ENA	IsCancer	FusionGene
Research	25979483	Kim TM, Jung SH, An CH, Lee SH, Baek IP, Kim M, Park SW, Rhee JK, Lee SH, Chung YJ	Subclonal genomic architectures of primary and metastatic colorectal cancer based on intratumoral genetic heterogeneity.	Clin Cancer Res	2015 May	2	Colorectal cancer	Array CGH	Homo sapiens	CRC3	Agilent SurePrint G3 Human CGH Microarray 180K				Center for Cancer Evolution, Medical Research Center, The Catholic University of Korea	PURPOSE: The intratumoral heterogeneity (ITH) and the evolution of genomic architectures associated with the development of distant metastases are not well understood in colorectal cancers (CRCs). EXPERIMENTAL DESIGN: We performed multiregion biopsies of primary and liver metastatic regions from five CRCs with whole-exome sequencing and copy number profiling. RESULTS: In addition to a substantial level of genetic ITH, multiregion genetic profiling identifies the subclonal mutational architecture leading to the region-based or spatial categorization of somatic mutations and the inference of intratumoral evolutionary history of cancers. The universal mutations (those observed in all the regional biopsies) are enriched in known cancer genes such as APC and TP53 with distinct mutational spectra compared to biopsy- or region-specific mutations suggesting that major operative mutational mechanisms and their selective pressures are not constant across the metastatic progression. The phylogenies inferred from genomic data show branching evolutionary patterns where some primary biopsies are often segregated with metastastic lesions. Our analyses also revealed that copy number changes such as the chromosomal gains of c-MYC and chromothripsis can be region-specific and the potential source of genetic ITH. CONCLUSIONS: Our data shows that the genetic ITH is prevalent in CRC serving as a potential driving force to generate metastasis-initiating clones and also as a means to infer the intratumoral evolutionary history of cancers. The paucity of recurrent metastasis-clonal events suggests that CRC distant metastases may not follow a uniform course of genomic evolution, which should be considered in the genetic diagnosis and the selection of therapeutic targets for the advanced CRC.	GRCh37/hg19	GSE58512			Yes	NA
Research	25979483	Kim TM, Jung SH, An CH, Lee SH, Baek IP, Kim M, Park SW, Rhee JK, Lee SH, Chung YJ	Subclonal genomic architectures of primary and metastatic colorectal cancer based on intratumoral genetic heterogeneity.	Clin Cancer Res	2015 May	16	Colorectal cancer	Array CGH	Homo sapiens	CRC5	Agilent SurePrint G3 Human CGH Microarray 180K				Center for Cancer Evolution, Medical Research Center, The Catholic University of Korea	PURPOSE: The intratumoral heterogeneity (ITH) and the evolution of genomic architectures associated with the development of distant metastases are not well understood in colorectal cancers (CRCs). EXPERIMENTAL DESIGN: We performed multiregion biopsies of primary and liver metastatic regions from five CRCs with whole-exome sequencing and copy number profiling. RESULTS: In addition to a substantial level of genetic ITH, multiregion genetic profiling identifies the subclonal mutational architecture leading to the region-based or spatial categorization of somatic mutations and the inference of intratumoral evolutionary history of cancers. The universal mutations (those observed in all the regional biopsies) are enriched in known cancer genes such as APC and TP53 with distinct mutational spectra compared to biopsy- or region-specific mutations suggesting that major operative mutational mechanisms and their selective pressures are not constant across the metastatic progression. The phylogenies inferred from genomic data show branching evolutionary patterns where some primary biopsies are often segregated with metastastic lesions. Our analyses also revealed that copy number changes such as the chromosomal gains of c-MYC and chromothripsis can be region-specific and the potential source of genetic ITH. CONCLUSIONS: Our data shows that the genetic ITH is prevalent in CRC serving as a potential driving force to generate metastasis-initiating clones and also as a means to infer the intratumoral evolutionary history of cancers. The paucity of recurrent metastasis-clonal events suggests that CRC distant metastases may not follow a uniform course of genomic evolution, which should be considered in the genetic diagnosis and the selection of therapeutic targets for the advanced CRC.	GRCh37/hg19	GSE58512			Yes	NA