Abstract Introduction: Chromothripsis and chromoplexy are gross structural events that deregulate multiple genes simultaneously and may help explain rapid changes in clinical behavior. Previous screening studies in multiple myeloma (MM) using copy number arrays have identified chromothripsis at a low frequency (1.3%) and suggested it ...
Cody Ashby +20 more
openaire +2 more sources
Genome-Wide Analysis of Interchromosomal Interaction Probabilities Reveals Chained Translocations and Overrepresentation of Translocation Breakpoints in Genes in a Cutaneous T-Cell Lymphoma Cell Line [PDF]
In classical models of tumorigenesis, the accumulation of tumor promoting chromosomal aberrations is described as a gradual process. Next-generation sequencing-based methods have recently revealed complex patterns of chromosomal aberrations, which are ...
Anne Steininger +11 more
doaj +2 more sources
EWSR1::FLI1 promotes neocentromere formation in ewing sarcoma cells [PDF]
Ewing sarcoma (EwS) is characterized by chimeric fusions such as EWSR1::FLI1. Chromosome gain or loss is prevalent in EwS, and this chromosome instability (CIN) phenotype correlates with poor treatment outcomes.
Kitagawa R +7 more
europepmc +2 more sources
Structural variants shape the genomic landscape and clinical outcome of multiple myeloma [PDF]
Deciphering genomic architecture is key to identifying novel disease drivers and understanding the mechanisms underlying myeloma initiation and progression.
Cody Ashby +15 more
doaj +3 more sources
Evolution of structural rearrangements in prostate cancer intracranial metastases
Intracranial metastases in prostate cancer are uncommon but clinically aggressive. A detailed molecular characterization of prostate cancer intracranial metastases would improve our understanding of their pathogenesis and the search for new treatment ...
Francesca Khani +17 more
doaj +2 more sources
Participation of retroelements in chromoanagenesis in cancer development [PDF]
Purpose of the study: to determine the role of retroelements in chromoanagenesis mechanisms in cancer etiopathogenesis.Material and Methods. The search for relevant sources was carried out in the Scopus, Web of Science, PubMed, Elibrary systems ...
R. N. Mustafin
doaj +2 more sources
Chromoanagenesis: cataclysms behind complex chromosomal rearrangements
Background During the last decade, genome sequencing projects in cancer genomes as well as in patients with congenital diseases and healthy individuals have led to the identification of new types of massive chromosomal rearrangements arising during ...
Franck Pellestor
doaj +2 more sources
<p>Figure S1. gGraphs depicting gWalk showing connectivities of chromoplectic structural variants (each represented by different color paths) to common nodes. Figure S2. Circos plots depicting the canonical and noncanonical structural variants detected in prostate carcinoma cases with TMPRSS2::ERG driver fusion. Figure S3.
Cristina R. Antonescu +8 more
openaire +2 more sources
The genomic landscape of pediatric cancers: Implications for diagnosis and treatment [PDF]
The past decade has witnessed a major increase in our understanding of the genetic underpinnings of childhood cancer. Genomic sequencing studies have highlighted key differences between pediatric and adult cancers.
E. Sweet-Cordero, J. Biegel
semanticscholar +2 more sources
Tracing Oncogene Rearrangements in the Mutational History of Lung Adenocarcinoma
Mutational processes giving rise to lung adenocarcinomas (LADCs) in non-smokers remain elusive. We analyzed 138 LADC whole genomes, including 83 cases with minimal contribution of smoking-associated mutational signature.
Tae Min Kim, Yohan An, Yoon Kyung Jeon
exaly +2 more sources

