Genes, Proteins, and Biological Pathways Preventing Chromothripsis.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7780-2_15
Abstract: The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints,… read more here.
Keywords: biological pathways; chromothripsis; double strand; genes proteins ... See more keywords
Chromothripsis Detection and Characterization Using the CTLPScanner Web Server.
Sign Up to like & getrecommendations! Published in 2018 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-7780-2_17
Abstract: Accurate detection of chromothripsis event is important to study the mechanisms underlying this phenomenon. CTLPScanner ( http://cgma.scu.edu.cn/CTLPScanner/ ) is a web-based tool for identification and annotation of chromothripsis-like pattern (CTLP) in genomic array data. In… read more here.
Keywords: ctlpscanner; chromothripsis detection; detection characterization; chromothripsis ... See more keywords
Potential Role of Chromothripsis in the Genesis of Complex Chromosomal Rearrangements in Human Gametes and Preimplantation Embryo.
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DOI: 10.1007/978-1-4939-7780-2_3
Abstract: The discovery of a new class of massive chromosomal rearrangement, baptized chromothripsis, in different cancers and congenital disorders has deeply modified our understanding on the genesis of complex genomic rearrangements. Several mechanisms, involving abortive apoptosis,… read more here.
Keywords: genesis complex; chromothripsis; chromothripsis genesis; potential role ... See more keywords
Processing-Challenges Generated by Clusters of DNA Double-Strand Breaks Underpin Increased Effectiveness of High-LET Radiation and Chromothripsis.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-13-0593-1_10
Abstract: Whereas most endogenous and exogenous DNA damaging agents typically generate lesions that are relatively isolated and can be repaired easily, ionizing radiation (IR) also induces clustered lesions causing DNA double strand breaks (DSBs). Moreover, forms… read more here.
Keywords: dsb clusters; processing; chromothripsis; high let ... See more keywords
Chromothripsis in myeloid malignancies
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DOI: 10.1007/s00277-024-05814-9
Abstract: Chromothripsis refers to massive genomic rearrangements developed during a catastrophic event. In total acute myeloid leukemia (AML), the incidence of chromothripsis ranges from 0 to 6.6%, in cases of complex karyotype AML, the incidence of… read more here.
Keywords: tp53 mutations; chromothripsis myeloid; chromothripsis typically; incidence chromothripsis ... See more keywords
Concurrent chromothripsis events in a case of TP53 depleted acute myeloid leukemia with myelodysplasia-related changes.
Sign Up to like & getrecommendations! Published in 2019 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2019.06.009
Abstract: Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous hematological disorder defined by morphological, genetic, and clinical features. Patients with AML-MRC often show cytogenetic changes, which are associated with poor prognosis. Straightforward criteria for… read more here.
Keywords: myeloid leukemia; acute myeloid; case; chromothripsis ... See more keywords
Genetic hallmarks and clinical implications of chromothripsis in childhood T-cell acute lymphoblastic leukemia
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DOI: 10.1038/s41375-024-02370-z
Abstract: Chromothripsis (cth) is a form of genomic instability leading to massive de novo structural chromosome rearrangements in a one-time catastrophic event. It can cause cancer-promoting alterations, such as loss of sequences for tumor-suppressor genes, formation… read more here.
Keywords: cth; acute lymphoblastic; lymphoblastic leukemia; cell acute ... See more keywords
Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability
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DOI: 10.1038/s41467-024-54547-w
Abstract: Chromothripsis is a frequent form of genome instability, whereby a presumably single catastrophic event generates extensive genomic rearrangements of one or multiple chromosome(s). However, little is known about the heterogeneity of chromothripsis across different clones… read more here.
Keywords: genomic transcriptomic; chromothripsis; genome instability; single cell ... See more keywords
APOBEC3-dependent kataegis and TREX1-driven chromothripsis during telomere crisis
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DOI: 10.1038/s41588-020-0667-5
Abstract: Chromothripsis and kataegis are frequently observed in cancer and may arise from telomere crisis, a period of genome instability during tumorigenesis when depletion of the telomere reserve generates unstable dicentric chromosomes 1 – 5 .… read more here.
Keywords: chromothripsis; chromothripsis kataegis; trex1; telomere crisis ... See more keywords
Irradiation-induced increase in nuclear p62 levels contributes to chromosomal fragmentation and chromothripsis.
Sign Up to like & getrecommendations! Published in 2025 at "International journal of surgery"
DOI: 10.1097/js9.0000000000002643
Abstract: Chromosomal instability (CIN) is a hallmark of cancer, closely associated with tumor evolution, metastasis, immune evasion, and resistance to treatment. CIN is driven by persistent chromosome missegregation, resulting in abnormal chromosomal copy numbers and promoting… read more here.
Keywords: fragmentation chromothripsis; chromothripsis; nuclear p62; increase nuclear ... See more keywords
Mitotic clustering of pulverized chromosomes from micronuclei
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DOI: 10.1101/2022.07.19.500697
Abstract: Complex genome rearrangements can be generated by the catastrophic pulverization of missegregated chromosomes trapped within micronuclei through a process known as chromothripsis^ 1 – 5 . As each chromosome contains a single centromere, it remains… read more here.
Keywords: pulverized chromosomes; chromosomes micronuclei; clustering pulverized; mitotic clustering ... See more keywords