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Chromothripsis—Explosion in Genetic Science [PDF]
Cells, 2021 Chromothripsis has been defined as complex patterns of alternating genes copy number changes (normal, gain or loss) along the length of a chromosome or chromosome segment (International System for Human Cytogenomic Nomenclature 2020).
Mariia Shorokhova, Nikolay Nikolsky
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On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update [PDF]
Frontiers in Genetics, 2019 In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events.
Anna Pendina +2 more
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Chromothripsis in Treatment Resistance in Multiple Myeloma [PDF]
Genomics & Informatics, 2017 Multiple myeloma (MM) is a malignant disease caused by an abnormal proliferation of plasma cells, of which the prognostic factors include chromosomal abnormality, β-2 microglobulin, and albumin. Recently, the term chromothripsis has emerged, which is the
Kyoung Joo Lee +7 more
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A cell‐based model system links chromothripsis with hyperploidy
Molecular Systems Biology, 2015 A remarkable observation emerging from recent cancer genome analyses is the identification of chromothripsis as a one‐off genomic catastrophe, resulting in massive somatic DNA structural rearrangements (SRs). Largely due to lack of suitable model systems,
Jan Ellenberg +2 more
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Chromosomal Instability Drives Glioblastoma Heterogeneity and Therapeutic Opportunities [PDF]
Advanced ScienceGlioblastoma, the most aggressive and lethal form of brain cancer, is defined by profound genomic instability, with Chromosomal Instability (CIN) playing a central role in driving tumor progression, therapy resistance, and poor prognosis.
Amarnath Pal +3 more
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MedCommThis study aimed to identify the role of chromothripsis as a novel biomarker in the prognosis and differentiation diagnosis of pancreatic neuroendocrine neoplasms (pNENs).
Ming‐Yi Zhang +8 more
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Research progress on chromothripsis and tumorigenesis [PDF]
Zhongguo aizheng zazhi, 2023 Chromothripsis is a complex genomic rearrangement event in which localized regions of one or several chromosomes fragment in response to stress (ionizing radiation, chemical stimulation, infection, etc.) and then assembles in random order.
MENG Huanliang, MU Haoran, JIANG Yafei, TIAN Kai, HE Enjun, HUA Yingqi
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Chromothripsis in Chronic Lymphocytic Leukemia: A Driving Force of Genome Instability
Frontiers in Oncology, 2021 Chromothripsis represents a mechanism of massive chromosome shattering and reassembly leading to the formation of derivative chromosomes with abnormal functions and expression.
Kristyna Zavacka +4 more
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Frontiers in Oncology, 2023 Chromothripsis is a catastrophic event involving numerous chromosomal rearrangements in confined genomic regions of one or a few chromosomes, causing complex effects on cells via the extensive structural variation.
Qin Zhang +8 more
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Nature Communications, 2021 Chromothripsis is associated with unfavourable outcomes in multiple myeloma (MM), but its detection usually requires whole genome sequencing. Here the authors develop an approach to detect chromothripsis in MM based on copy-number signatures that also ...
Kylee H. Maclachlan +16 more
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