Results 71 to 80 of about 5,203 (193)

Chromothripsis in congenital disorders and cancer: similarities and differences

open access: yes, 2013
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

open access: yesQuantitative Biology, Volume 14, Issue 2, June 2026.
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

open access: yesCell Genomics
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

open access: yesBlood Cancer Journal, 2022
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

open access: yesFEBS Letters, Volume 600, Issue 9, Page 1265-1287, May 2026.
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

Combined Inhibition of ATR and Ribonucleotide Reductase Induces Synergistic Antineoplastic Activity in Osteosarcoma Cells

open access: yesCancer Reports, Volume 9, Issue 5, May 2026.
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

open access: yes, 2020
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

open access: yesMolecular Cytogenetics, 2018
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

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

open access: yesMolecular Oncology, Volume 20, Issue 4, Page 1061-1073, April 2026.
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

Optical Genome Mapping Reveals the Landscape of Structural Variations and Their Clinical Significance in HBOC-Related Breast Cancer

open access: yesFrontiers in Bioscience-Landmark
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

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