Results 31 to 40 of about 5,203 (193)

Structural variant evolution after telomere crisis

open access: yesNature Communications, 2021
Telomere crisis has been shown to induce chromothripsis and breakage fusion bridge (BFB) cycles in vitro. Here, the authors show that telomere crisis generates a much broader spectrum of structural variations, implying that cancers without chromothripsis
Sally M. Dewhurst   +8 more
doaj   +1 more source

Ergodicity Breaking and Self-Destruction of Cancer Cells by Induced Genome Chaos

open access: yesEntropy, 2023
During the progression of some cancer cells, the degree of genome instability may increase, leading to genome chaos in populations of malignant cells. While normally chaos is associated with ergodicity, i.e., the state when the time averages of relevant ...
Sergey Shityakov   +3 more
doaj   +1 more source

De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

open access: yesFrontiers in Genetics, 2020
Small supernumerary marker chromosomes (SMCs) are rare cytogenetic abnormalities. De novo small SMCs, particularly those combined with uniparental disomy (UPD), are assumed to result from incomplete trisomy rescue.
Keiko Matsubara   +4 more
doaj   +1 more source

Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

open access: yesMolecular Cytogenetics, 2023
Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma ...
Joel Lanceta   +7 more
doaj   +1 more source

Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison

open access: yesBiomedicines, 2021
We performed a comparative cytogenomic analysis of cultured and uncultured uterine leiomyoma (UL) samples. The experimental approach included karyotyping, aCGH, verification of the detected chromosomal abnormalities by metaphase and interphase FISH ...
Alla S. Koltsova   +19 more
doaj   +1 more source

ERα-related chromothripsis enhances concordant gene transcription on chromosome 17q11.1-q24.1 in luminal breast cancer

open access: yesBMC Medical Genomics, 2020
Background Chromothripsis is an event of genomic instability leading to complex chromosomal alterations in cancer. Frequent long-range chromatin interactions between transcription factors (TFs) and targets may promote extensive translocations and copy ...
Chun-Lin Lin   +15 more
doaj   +1 more source

Extrachromosomal circular DNA in cancer drug resistance and its potential clinical implications

open access: yesFrontiers in Oncology, 2023
Chemotherapy is widely used to treat patients with cancer. However, resistance to chemotherapeutic drugs remains a major clinical concern. The mechanisms of cancer drug resistance are extremely complex and involve such factors such as genomic instability,
Juanjuan Luo   +10 more
doaj   +1 more source

ChromothripsisDB: a curated database of chromothripsis [PDF]

open access: yesBioinformatics, 2015
Abstract Summary: Chromothripsis is a single catastrophic event that can lead to massive genomic rearrangements confined to one or a few chromosomes. It provides an alternative paradigm in cancer development and changes the conventional view that cancer develops in a stepwise progression.
Jian Yang, Gaofeng Deng, Haoyang Cai
openaire   +2 more sources

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

open access: yesFrontiers in Genetics, 2021
Chromoanagenesis is a descriptive term that encompasses classes of catastrophic mutagenic processes that generate localized and complex chromosome rearrangements in both somatic and germline genomes.
Christopher M. Grochowski   +16 more
doaj   +1 more source

Constitutional Chromothripsis Rearrangements Involve Clustered Double-Stranded DNA Breaks and Nonhomologous Repair Mechanisms

open access: yesCell Reports, 2012
Chromothripsis represents a novel phenomenon in the structural variation landscape of cancer genomes. Here, we analyze the genomes of ten patients with congenital disease who were preselected to carry complex chromosomal rearrangements with more than two
Wigard P. Kloosterman   +21 more
doaj   +1 more source

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