Results 11 to 20 of about 946 (139)
Aneuploidy and complex genomic rearrangements in cancer evolution. [PDF]
Nat CancerMutational processes that alter large genomic regions occur frequently in developing tumors. They range from simple copy number gains and losses to the shattering and reassembly of entire chromosomes.
Baker TM +3 more
europepmc +5 more sources
Complex structural variation is prevalent and highly pathogenic in pediatric solid tumors [PDF]
Cell GenomicsSummary: In pediatric cancer, structural variants (SVs) and copy-number alterations contribute to cancer initiation as well as progression, thereby aiding diagnosis and treatment stratification.
Ianthe A.E.M. van Belzen +19 more
doaj +4 more sources
Linked-read based analysis of the medulloblastoma genome [PDF]
Frontiers in Oncology, 2023 IntroductionMedulloblastoma is the most common type of malignant pediatric brain tumor with group 4 medulloblastomas (G4 MBs) accounting for 40% of cases. However, the molecular mechanisms that underlie this subgroup are still poorly understood.
Melissa Zwaig +11 more
doaj +4 more sources
Quantitative and qualitative mutational impact of ionizing radiation on normal cells
Cell GenomicsSummary: The comprehensive genomic impact of ionizing radiation (IR), a carcinogen, on healthy somatic cells remains unclear. Using large-scale whole-genome sequencing (WGS) of clones expanded from irradiated murine and human single cells, we revealed ...
Jeonghwan Youk +38 more
doaj +3 more sources
Chromoanagenesis: a piece of the macroevolution scenario
Molecular Cytogenetics, 2020 Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients with congenital diseases and healthy ...
Franck Pellestor, Vincent Gatinois
doaj +3 more sources
The ancestral karyotype of the Heliantheae Alliance, herbicide resistance, and human allergens: Insights from the genomes of common and giant ragweed [PDF]
The Plant GenomeAmbrosia artemisiifolia and Ambrosia trifida (Asteraceae) are important pest species and the two greatest sources of aeroallergens globally. Here, we took advantage of a hybrid to simplify genome assembly and present chromosome‐level assemblies for both ...
Martin Laforest +6 more
doaj +3 more sources
Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32. [PDF]
Eur J Hum GenetDespite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with a NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging ...
Dardas Z +14 more
europepmc +4 more sources
Blood, 2019 Background: Structural variants are key recurrent molecular features of myeloma (MM) with two types of complex rearrangement, chromoplexy and chromothripsis, having been described recently. The contribution of these to MM prognosis, rapid changes in clinical behavior and punctuated evolution is currently unknown as is the mechanism by which they ...
Cody Ashby +9 more
openaire +2 more sources
Punctuated Evolution of Prostate Cancer Genomes [PDF]
Cell, 2013 SUMMARY The analysis of exonic DNA from prostate cancers has identified recurrently mutated genes, but the spectrum of genome-wide alterations has not been profiled extensively in this disease.
S. Baca +42 more
semanticscholar +3 more sources
Cancer evolution: Darwin and beyond [PDF]
EMBO Journal, 2021 Clinical and laboratory studies over recent decades have established branched evolution as a feature of cancer. However, while grounded in somatic selection, several lines of evidence suggest a Darwinian model alone is insufficient to fully explain ...
Roberto Vendramin +2 more
semanticscholar +4 more sources