Document Detail

Prevalence and clinical implications of chromothripsis in cancer genomes.
MedLine Citation:
PMID:  24305569     Owner:  NLM     Status:  In-Data-Review    
PURPOSE OF REVIEW: A variety of mutational mechanisms shape the landscape of somatic mutations in cancer genomes. Although the contribution of single nucleotide mutations is well studied, getting a hold of structural genomic rearrangements is more difficult due to their complexity and diversity in sizes and classes. Here, we discuss the incidence of complex genomic rearrangements and their impact on cancer development and progression.
RECENT FINDINGS: Catastrophic genome rearrangements have recently been described in various cancer genomes. Such complex genomic rearrangements may be a result of local shattering of chromosomes followed by reassembly of DNA fragments, a process termed chromothripsis. In addition, DNA replication errors may lead to complex genomic rearrangements in cancer. Complex reshuffling of chromosomes can cause formation of gene fusions, disruption of tumor suppressors, and amplification of oncogenes. Furthermore, the occurrence of chromothripsis has been associated with poor prognosis in neuroblastoma, melanoma, and multiple myeloma.
SUMMARY: Complex genomic rearrangements, such as chromothripsis, may affect cancer gene function and thereby have a major impact on cancer progression, prognosis, and therapy response.
Wigard P Kloosterman; Jan Koster; Jan J Molenaar
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Current opinion in oncology     Volume:  26     ISSN:  1531-703X     ISO Abbreviation:  Curr Opin Oncol     Publication Date:  2014 Jan 
Date Detail:
Created Date:  2013-12-05     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9007265     Medline TA:  Curr Opin Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  64-72     Citation Subset:  IM    
aDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht bDepartment of Oncogenomics, Academic Medical Center, Amsterdam, The Netherlands.
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