ChromothripsisDB: a curated database of chromothripsis
 
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PubMed ID   24187453 Publish Date   2013 Oct
Journal   World J Gastroenterol Species  
Disease Type   Technology  
Title   Clinical applications of next-generation sequencing in colorectal cancers
Authors   Tae-Min Kim, Sug-Hyung Lee, Yeun-Jun Chung
Affiliation   MRC Cancer Evolution Research Center, College of Medicine, The Catholic University of Korea, Seoul 137-701, South Korea
Chromothripsis Definition   Close-by breakpoints: NA
Copy number states: NA
Fragments random joining: NA
Abstract   Like other solid tumors, colorectal cancer (CRC) is a genomic disorder in which various types of genomic alterations, such as point mutations, genomic rearrangements, gene fusions, or chromosomal copy number alterations, can contribute to the initiation and progression of the disease. The advent of a new DNA sequencing technology known as next-generation sequencing (NGS) has revolutionized the speed and throughput of cataloguing such cancer-related genomic alterations. Now the challenge is how to exploit this advanced technology to better understand the underlying molecular mechanism of colorectal carcinogenesis and to identify clinically relevant genetic biomarkers for diagnosis and personalized therapeutics. In this review, we will introduce NGS-based cancer genomics studies focusing on those of CRC, including a recent large-scale report from the Cancer Genome Atlas. We will mainly discuss how NGS-based exome-, whole genome- and methylome-sequencing have extended our understanding of colorectal carcinogenesis. We will also introduce the unique genomic features of CRC discovered by NGS technologies, such as the relationship with bacterial pathogens and the massive genomic rearrangements of chromothripsis. Finally, we will discuss the necessary steps prior to development of a clinical application of NGS-related findings for the advanced management of patients with CRC.
 
 
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