Chromothripsis and Kataegis Induced by Telomere Crisis.
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TLDR
It is proposed that chromothripsis in human cancer may arise through TREX1-mediated fragmentation of dicentric chromosomes formed in telomere crisis through the generation of the ssDNA and the resolution of the chromatin bridges.About:
This article is published in Cell.The article was published on 2015-12-17 and is currently open access. It has received 530 citations till now. The article focuses on the topics: Chromothripsis & Dicentric chromosome.read more
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Putting p53 in Context
TL;DR: TP53 is the most frequently mutated gene in human cancer and must be interpreted to understand how cell type, mutation profile, and epigenetic cell state dictate outcomes, and how might it restore its tumor-suppressive activities in cancer.
Journal ArticleDOI
cGAS surveillance of micronuclei links genome instability to innate immunity
Karen J. Mackenzie,Paula Carroll,Carol Anne Martin,Olga Murina,Adeline Fluteau,Daniel J. Simpson,Nelly Olova,Hannah Sutcliffe,Jacqueline K. Rainger,Andrea Leitch,Ruby T. Osborn,Ann P. Wheeler,Marcin Nowotny,Nick Gilbert,Tamir Chandra,Martin A M Reijns,Andrew P. Jackson +16 more
TL;DR: It is reported that cGAS localizes to micronuclei arising from genome instability in a mouse model of monogenic autoinflammation, after exogenous DNA damage and spontaneously in human cancer cells, and it is established that interferon-stimulated gene expression is induced inmicronucleated cells, concluding that micronsuclei represent an important source of immunostimulatory DNA.
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ESCRT III repairs nuclear envelope ruptures during cell migration to limit DNA damage and cell death
Matthew Raab,Matteo Gentili,H de Belly,Hawa Racine Thiam,Pablo Vargas,A J Jimenez,F Lautenschlaeger,Raphaël Voituriez,Ana-Maria Lennon-Duménil,Nicolas Manel,Matthieu Piel +10 more
TL;DR: Nuclear envelope opening in migrating leukocytes could have potentially important consequences for normal and pathological immune responses and survival of cells migrating through confining environments depended on efficient nuclear envelope and DNA repair machineries.
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Roles for retrotransposon insertions in human disease
TL;DR: An overview of LINE-1 biology is provided followed by highlights from new reports of Line-1-mediated genetic disease in humans, which provide a wealth of insight and the foundation for valuable tools to study these genomic parasites.
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Patterns of somatic structural variation in human cancer genomes
Yang Li,Nicola D. Roberts,Jeremiah Wala,Jeremiah Wala,Ofer Shapira,Ofer Shapira,Steven E. Schumacher,Steven E. Schumacher,Kiran Kumar,Kiran Kumar,Ekta Khurana,Sebastian M. Waszak,Jan O. Korbel,James E. Haber,Marcin Imielinski,Joachim Weischenfeldt,Rameen Beroukhim,Rameen Beroukhim,Peter J. Campbell,Peter J. Campbell +19 more
TL;DR: Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.
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Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development
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TL;DR: Genomic instability co-segregated with inactivation of DNA maintenance genes (BRCA1, BRCA2 or PALB2) and a mutational signature of DNA damage repair deficiency, and 4 of 5 individuals with these measures of defective DNA maintenance responded to platinum therapy.
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