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Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism
Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These...
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Structural variants shape the genomic landscape and clinical outcome of multiple myeloma
Deciphering genomic architecture is key to identifying novel disease drivers and understanding the mechanisms underlying myeloma initiation and...
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Prostate Cancer
Prostate cancer is a highly prevalent cancer in older men. Its clinical course is extremely variable. Detection of prostate cancer has been improved...
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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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Characterizing Chemotherapy/Radiotherapy-Induced Genome Chaos in Hodgkin’s Lymphoma Patients Using M-FISH
Hodgkin lymphoma (HL) is one of the most common lymphomas, with an incidence of 3 per 100,000 persons. Current treatment uses a cocktail of genotoxic...
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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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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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Cancer Genomics
In this chapter, we will discuss cancer as a disease of our genome, which is primarily caused by sporadic mutations of the DNA in our cells. In...
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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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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 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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Cancer Genetics
This chapter summarizes genetic predisposition to cancer, the various kinds of genetic changes in cancer cells, and introduces some of the mechanisms...
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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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Intra-prostatic tumour evolution, steps in metastatic spread and histogenomic associations revealed by integration of multi-region whole-genome sequencing with histopathological features
BackgroundExtension of prostate cancer beyond the primary site by local invasion or nodal metastasis is associated with poor prognosis. Despite...
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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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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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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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Unifying Concept of Genomic Changes: The Mutational Landscape of Cancers
The genomic landscape of cancer is complex, can be described in multiple different ways, and is still evolving. As technology evolves and more tumors...
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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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Ultrafast prediction of somatic structural variations by filtering out reads matched to pan-genome k-mer sets
Variant callers typically produce massive numbers of false positives for structural variations, such as cancer-relevant copy-number alterations and...
