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The genomic characteristics and cellular origin of chromothripsis [PDF]

Current Opinion in Cell Biology, 2016
Human genomes are continuously subjected to mutations, which can drive genetic diseases and cancer. An intriguing recent finding has been the discovery of chromothripsis, a spectacular and complex form of chromosome rearrangement that can occur in the ...
Storchová, Zuzana, Kloosterman, Wigard P., Storchova, Z., Kloosterman, W.   +3 more
core   +4 more sources

Chromoanagenesis in Osteosarcoma [PDF]

Biomolecules
Chromoanagenesis is a catastrophic genomic phenomenon involving sudden, extensive rearrangements within one or a few cell cycles. In osteosarcoma, the most prevalent malignant bone tumor in children and adolescents, these events dramatically alter the ...
Guozhuang Li, Nan Wu, Jen Ghabrial, Victoria Stinnett, Melanie Klausner, Laura Morsberger, Patty Long, Ezra Baraban, John M. Gross, Ying S. Zou   +9 more
doaj   +2 more sources

Pathways to chromothripsis [PDF]

Cell Cycle, 2015
Chromothripsis is a recently recognized mode of genetic instability that generates chromosomes with strikingly large numbers of segmental re-arrangements. While the characterization of these derivative chromosomes has provided new insights into the processes by which cancer genomes can evolve, the underlying signaling events and molecular mechanisms ...
Robert, Ivkov, Fred, Bunz
openaire   +2 more sources

Chromothripsis: Chromosomes in Crisis [PDF]

Developmental Cell, 2012
During oncogenesis, cells acquire multiple genetic alterations that confer essential tumor-specific traits, including immortalization, escape from antimitogenic signaling, neovascularization, invasiveness, and metastatic potential. In most instances, these alterations are thought to arise incrementally over years, if not decades.
Jones, Mathew J.K., Jallepalli, Prasad V.   +1 more
openaire   +5 more sources

bachisiozic/CNA-signatures-predict-chromothripsis: Applying copy number signature analysis in multiple myeloma

, 2021
The following analysis workflow is a companion to the manuscript "Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma" by Maclachlan et ...
Bachisio Ziccheddu
core   +1 more source

Copy number variations and constitutional chromothripsis (Review) [PDF]

, 2020
Both copy number variations (CNVs) and chromothripsis are phenomena that involve complex genomic rearrangements. Chromothripsis results in CNVs and other structural changes. CNVs are frequently observed in the human genome.
Brás, Aldina, Rodrigues, António Sebastião, Rueff, Jose   +2 more
core   +1 more source

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing [PDF]

, 2020
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially ...
PCAWG Structural Variation Working Group, PCAWG Consortium   +1 more
core   +15 more sources

Telomere dysfunction and chromothripsis [PDF]

International Journal of Cancer, 2016
Chromothripsis is a recently discovered form of genomic instability, characterized by tens to hundreds of clustered DNA rearrangements resulting from a single dramatic event. Telomere dysfunction has been suggested to play a role in the initiation of this phenomenon, which occurs in a large number of tumor entities.
Aurélie, Ernst, David T W, Jones, Kendra K, Maass, Agata, Rode, Katharina I, Deeg, Billy Michael Chelliah, Jebaraj, Andrey, Korshunov, Volker, Hovestadt, Michael A, Tainsky, Kristian W, Pajtler, Sebastian, Bender, Sebastian, Brabetz, Susanne, Gröbner, Marcel, Kool, Frauke, Devens, Jennifer, Edelmann, Cindy, Zhang, Pedro, Castelo-Branco, Uri, Tabori, David, Malkin, Karsten, Rippe, Stephan, Stilgenbauer, Stefan M, Pfister, Marc, Zapatka, Peter, Lichter   +24 more
openaire   +2 more sources

Chromothripsis is a common mechanism driving genomic rearrangements in primary and metastatic colorectal cancer [PDF]

, 2011
: BACKGROUND: Structural rearrangements form a major class of somatic variation in cancer genomes. Local chromosome shattering, termed chromothripsis, is a mechanism proposed to be the cause of clustered chromosomal rearrangements and was recently ...
Cuppen, E., Marlous Hoogstraat, Lieshout, S., van, Stef van Lieshout, Ivo Renkens, van Lieshout, S., Roosmalen van, M., Belt van de, J., Marco Koudijs, Hoogstraat, M., Voest, E.E., Koudijs, M.J., Isaac J Nijman, Edwin Cuppen, van Roosmalen, M., Ruben van 't Slot, José van de Belt, Masoumeh Tavakoli-Yaraki, Wijnand Roessingh, Vermaat, J.S., Slot, R., van 't, Nijman, I.J., Kloosterman, W.P., Lieshout van, S., Emile Voest, Renkens, I., Oscar Paling, Joost S Vermaat, Vermaat, J.E., Wigard P Kloosterman, Van't Slot, R., Belt, J., van de, van de Belt, J., Roessingh, W., Paling, O., Slot Van't, R., Guryev, V., Roosmalen, M.J., van, Tavakoli-Yaraki, M., Victor Guryev, Markus J van Roosmalen   +40 more
core   +3 more sources

The landscape of chromothripsis across adult cancer types

Nature Communications, 2020
The shattering of chromosomes is a dramatic early event in tumourigenesis and is termed chromothripsis. Here, the authors examine chromothripsis across 28 tumour types and show that 49% of cancers exhibit features of chromothripsis.
Natalia Voronina, John K. L. Wong, Daniel Hübschmann, Mario Hlevnjak, Sebastian Uhrig, Christoph E. Heilig, Peter Horak, Simon Kreutzfeldt, Andreas Mock, Albrecht Stenzinger, Barbara Hutter, Martina Fröhlich, Benedikt Brors, Arne Jahn, Barbara Klink, Laura Gieldon, Lina Sieverling, Lars Feuerbach, Priya Chudasama, Katja Beck, Matthias Kroiss, Christoph Heining, Lino Möhrmann, Andrea Fischer, Evelin Schröck, Hanno Glimm, Marc Zapatka, Peter Lichter, Stefan Fröhling, Aurélie Ernst   +29 more
doaj   +1 more source