ChromothripsisDB: a curated database of chromothripsis
 
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PubMed ID   27259208 Publish Date   2016 Jun
Journal   Mol Cell Species  
Disease Type   Technology  
Title   When Genome Maintenance Goes Badly Awry
Authors   Kass EM, Moynahan ME, Jasin M
Affiliation   Developmental Biology Program, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA
Chromothripsis Definition   Close-by breakpoints: NA
Copy number states: NA
Fragments random joining: NA
Abstract   Genetic abnormalities are present in all tumor types, although the frequency and type can vary. Chromosome abnormalities include highly aberrant structures, particularly chromothriptic chromosomes. The generation of massive sequencing data has illuminated the scope of the mutational burden in cancer genomes, identifying patterns of mutations (mutation signatures), which have the potential to shed light on the relatedness and etiologies of cancers and impact therapy response. Some mutation patterns are clearly attributable to disruptions in pathways that maintain genomic integrity. Here we review recent advances in our understanding of genetic changes occurring in cancers and the roles of genome maintenance pathways.
 
 
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