When Genome Maintenance Goes Badly Awry

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• 作者：Elizabeth M. Kass¹ ; Mary Ellen Moynahan² ; Maria Jasin¹ ; ^{m-jasin@ski.mskcc.org" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Cancer genomes ; chromothripsis ; kataegis ; mutation signature ; homologous recombination ; BRCA1 ; BRCA2
• 刊名：Molecular Cell
• 出版年：2016
• 出版时间：2 June 2016
• 年：2016
• 卷：62
• 期：5
• 页码：777-787
• 全文大小：1231 K

文摘

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.