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Bi-allelic amplification of ATM gene in blastoid variant of mantle cell lymphoma: a novel mechanism of inactivation due to chromoanagenesis?
BackgroundMantle cell lymphoma (MCL) is derived from naïve CD5+ B-cells with the cytogenetic hallmark translocation 11;14. The presence of additional...
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Chromoanagenesis: a piece of the macroevolution scenario
Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes...
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Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in cancer. Based on large-scale DNA sequencing of human tumours, the...
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Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis
BackgroundChromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly...
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Mechanisms of structural chromosomal rearrangement formation
Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that...
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The Importance of Monitoring Non-clonal Chromosome Aberrations (NCCAs) in Cancer Research
Cytogenetic analysis has traditionally focused on the clonal chromosome aberrations, or CCAs, and considered the large number of diverse non-clonal...
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Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
BackgroundDuring the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy...
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Methods of Detection and Mechanisms of Origin of Complex Structural Genome Variations
Based on classical karyoty**, structural genome variations (SVs) have generally been considered to be either “simple” (with one or two breakpoints)...
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Tracking Karyotype Changes in Treatment-Induced Drug-Resistant Evolution
Karyotype coding, which encompasses the complete chromosome sets and their topological genomic relationships within a given species, encodes...
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BAP1 as a guardian of genome stability: implications in human cancer
BAP1 is a ubiquitin C-terminal hydrolase domain-containing deubiquitinase with a wide array of biological activities. Studies in which advanced...
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The New Era of Cancer Cytogenetics and Cytogenomics
The promises of the cancer genome sequencing project, combined with various -omics technologies, have raised questions about the importance of cancer...
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Molecular combing and its application in clinical settings
Molecular combing technology (MCT) is an effective means for stretching DNA molecules and making them thus accessible for in situ studies. MCT uses...
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Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we...
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Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier
Chromoanagenesis is a genomic event responsible for the formation of complex structural chromosomal rearrangements (CCRs). Germline chromoanagenesis...
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snakeSV: Flexible Framework for Large-Scale SV Discovery
We present snakeSV, an open-source fast and scalable framework to analyze genomic structural variation (SV) at scale. The framework is easily...
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Urine-derived bladder cancer organoids (urinoids) as a tool for cancer longitudinal response monitoring and therapy adaptation
BackgroundBladder cancer is one of the most common cancer types worldwide. Generally, research relies on invasive sampling strategies.
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Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant
BackgroundComplex genomic structural variations, involving chromoanagenesis, have been implicated in multiple congenital anomalies and abnormal...
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Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency
Chromosomal structural rearrangements consist of anomalies in genomic architecture that may or may not be associated with genetic material gain and...
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Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes
Structural analysis of small supernumerary marker chromosomes (sSMCs) has revealed that many have complex structures. Structural analysis of sSMCs by...
