Results 11 to 20 of about 5,203 (193)
Chromothripsis and DNA Repair Disorders [PDF]
Journal of Clinical Medicine, 2020 Chromothripsis is a mutational mechanism leading to complex and relatively clustered chromosomal rearrangements, resulting in diverse phenotypic outcomes depending on the involved genomic landscapes.
Bjerregaard, Victoria Alexandra +9 more
core +5 more sources
The elusive evidence for chromothripsis [PDF]
Nucleic Acids Research, 2014 The chromothripsis hypothesis suggests an extraordinary one-step catastrophic genomic event allowing a chromosome to 'shatter into many pieces' and reassemble into a functioning chromosome.
Patel, Anand +2 more
core +6 more sources
ShatterProof: operational detection and quantification of chromothripsis [PDF]
BMC Bioinformatics, 2018 Background Chromothripsis, a newly discovered type of complex genomic rearrangement, has been implicated in the evolution of several types of cancers.
van der Kwast, Theodorus +11 more
core +8 more sources
Chromothripsis and the Macroevolution Theory.
, 2018 International audienceThe recent discovery of a new class of massive chromosomal rearrangements, occurring during one unique cellular event and baptized "chromothripsis," deeply modifies our perception on the genesis of complex genomic rearrangements ...
Franck Pellestor, Pellestor, Franck
core +3 more sources
iScienceSummary: Chromothripsis, a hallmark of cancer, is characterized by extensive and localized DNA rearrangements involving one or a few chromosomes. However, its genome-wide frequency and characteristics in urothelial carcinoma (UC) remain largely unknown ...
Yuchen Zeng +33 more
doaj +2 more sources
Criteria for Inference of Chromothripsis in Cancer Genomes [PDF]
Cell, 2013 Chromothripsis scars the genome when localized chromosome shattering and repair occurs in a one-off catastrophe. Outcomes of this process are detectable as massive DNA rearrangements affecting one or a few chromosomes.
Korbel, Jan O., Campbell, Peter J.
core +4 more sources
The Genomic Characteristics and Origin of Chromothripsis
, 2018 International audienceIn 2011 a phenomenon involving complex chromosomal rearrangements was discovered in cancer genomes. This phenomenon has been termed chromothripsis, on the basis of its chromosomal hallmarks, which point to an underlying process ...
Kloosterman, W. P. +5 more
core +3 more sources
Chromothripsis in Oncology: Literature Review and Case Report [PDF]
Клиническая онкогематология, 2017 The article presents a clinical case and literature review dwelling on the recently discovered chromothripsis phenomenon in oncology. Chromothripsis is a type of complex genome changes when a chromosome is first torn into dozens and even thousands of ...
N. N. Mamaev +2 more
doaj +2 more sources
Complex Chromothripsis-like Features in Plasma Cell Myeloma: A Case Report and Review of the Literature [PDF]
DiagnosticsBackground and Clinical Significance: Chromothripsis represents a catastrophic genomic event in plasma cell myeloma (PCM) associated with poor prognosis. We report a case of newly diagnosed PCM with complex cytogenetic abnormalities indicative of genomic
Jaymie Oentoro +5 more
doaj +2 more sources
Cancer cells’ chamber of secrets: the link between micronuclei, chromothripsis and malignancy [PDF]
Open BiologyMicronuclei exhibit defective proteomes rendering their chromatin vulnerable to fragmentation. This fragmentation process, known as chromothripsis, promotes tumorigenesis by catalysing the activation of oncogenes and the silencing of tumor suppressors ...
Truman Raleigh Mcneil +2 more
doaj +2 more sources