Results 71 to 80 of about 5,203 (193)
Chromothripsis in congenital disorders and cancer: similarities and differences
Genomic rearrangements may give rise to congenital disease and contribute to cancer development. Recent evidence has shown that very complex genomic rearrangements in cancer cells can result from a single catastrophic event of massive DNA breakage and ...
Cuppen, E., Kloosterman, W.P.
core +1 more source
Pitfalls and missing links in current understanding of 4D genomes
Abstract The spatial and temporal organization of the genome—collectively termed the 4D genome—is pivotal for regulating gene expression, maintaining genome stability, and guiding development. The convergence of chromosome conformation capture technologies, super‐resolution microscopy, and single‐cell epigenomics has transformed our understanding of ...
Michael Q. Zhang
wiley +1 more source
Haplotype-specific assembly of shattered chromosomes in esophageal adenocarcinomas
Summary: The epigenetic landscape of cancer is regulated by many factors, but primarily it derives from the underlying genome sequence. Chromothripsis is a catastrophic localized genome shattering event that drives, and often initiates, cancer evolution.
Jannat Ijaz +14 more
doaj +1 more source
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 progression.
Cody Ashby +15 more
doaj +1 more source
The newfound relationship between extrachromosomal DNAs and excised signal circles
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley +1 more source
ABSTRACT Background Osteosarcoma is the most common bone cancer in children and young adults. Its prognosis has not improved significantly since the introduction of the chemotherapy regimen established about 40 years ago, highlighting the need for new therapeutic strategies.
Natalie Aderhold +5 more
wiley +1 more source
Supplementary Figure 3 from Chromothripsis in Human Breast Cancer
Fusion genes in tumors with and without ...
Shaymaa Elgaafary (14945289) +17 more
core +1 more source
Chromothripsis 18 in multiple myeloma patient with rapid extramedullary relapse
Background Catastrophic chromosomal event known as chromothripsis was proven to be a significant hallmark of poor prognosis in several cancer diseases. While this phenomenon is very rare in among multiple myeloma (MM) patients, its presence in karyotype ...
Jan Smetana +4 more
doaj +1 more source
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard +5 more
wiley +1 more source
Background: Structural variations (SVs) are common genetic alterations in the human genome. However, the profile and clinical relevance of SVs in patients with hereditary breast and ovarian cancer (HBOC) syndrome (germline BRCA1/2 mutations) remains to ...
Yanan Cheng +8 more
doaj +1 more source

