Chromothripsis
Chromothripsis is a phenomenon characterized by chromosomal breakage at one or several closely clustered loci on a chromosome, followed by the random reassembly of the chromosomal fragments. This process leads to complex genomic rearrangements. Key features of chromothripsis include the non-sequential and non-directional rejoining of fragments, minimal homology at the breakpoints, slight changes in copy number, and a high retention of heterozygosity in the rearranged chromosomal segments.
Chromoplexy
Chromoplexy is another one-time mechanism leading to large-scale genomic rearrangement, characterized by closed-loop and interdependent translocations and deletions both within and between multiple chromosomes. A distinctive feature of this process is the near absence of copy number changes in the resulting derivative chromosomes. The breakpoints in chromoplexy appear to be associated with active DNA replication or transcription regions.
Seismic Amplification
Seismic Amplification is a highly complex type of genomic amplification. This process begins with chromosomal shattering, where the fragmented pieces do not rejoin the original chromosome but instead undergo circularization. The circular DNA, through continuous recombination, leads to the formation of stable double minutes (DMs) or homogeneously staining regions (HSRs). If the DNA circles contain telomeres, the c-BFB mechanism may contribute to the formation of Neochromosomes
Rigma Pyrgo Tyfonas
Pyrgo is described as a low Joint Copy Number (JCN) replication pattern associated with early replication regions and super-enhancers, commonly observed in breast or ovarian cancers. Rigma, on the other hand, depicts a low JCN deletion pattern related to late replication fragile sites, typically associated with gastrointestinal cancers.Tyfonas is an extensive amplification pattern, usually encompassing over 100 Mbp of the genome, with copy numbers often exceeding 50, a pattern frequently seen in dedifferentiated liposarcomas.
References
https://doi.org/10.1186/1471-2164-15-82
https://doi.org/10.1186/s13039-019-0415-7
https://doi.org/10.1038/s41588-021-00951-7
https://doi.org/10.1016/j.cell.2020.08.006
Contact
Cai Lab. College of Life Sciences, Sichuan University, China
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