Results 41 to 50 of about 5,203 (193)

Chromothripsis in cancer cells: An update [PDF]

open access: yesInternational Journal of Cancer, 2015
In 2011, a novel form of genome instability was reported by Stephens et al., characterized by tens to hundreds of locally clustered rearrangements affecting one or a few chromosome(s) in cancer cells. This phenomenon, termed chromothripsis, is likely due to a single catastrophic event leading to the simultaneous formation of multiple double‐strand ...
Agata, Rode   +4 more
openaire   +2 more sources

Chromothripsis from DNA damage in micronuclei [PDF]

open access: yesNature, 2015
Genome sequencing has uncovered a new mutational phenomenon in cancer and congenital disorders called chromothripsis. Chromothripsis is characterized by extensive genomic rearrangements and an oscillating pattern of DNA copy number levels, all curiously restricted to one or a few chromosomes.
Zhang, Cheng-Zhong   +7 more
openaire   +4 more sources

Chromosomal instability and a deregulated cell cycle are intrinsic features of high‐risk gastrointestinal stromal tumours with a metastatic potential

open access: yesMolecular Oncology, 2023
Patients with localised, high‐risk gastrointestinal stromal tumours (GIST) benefit from adjuvant imatinib treatment. Still, approximately 40% of patients relapse within 3 years after adjuvant therapy and the clinical and histopathological features ...
Heidi Maria Namløs   +7 more
doaj   +1 more source

CHROMOTHRIPSIS FROM DNA DAMAGE IN MICRONUCLEI

open access: yes, 2016
Genome sequencing has uncovered a new mutational phenomenon in cancer and congenital disorders called chromothripsis. Chromothripsis is characterized by extensive genomic rearrangements and an oscillating pattern of DNA copy number levels, all curiously ...
Liu, Shiwei   +7 more
core   +1 more source

Chromothripsis and progression-free survival in metastatic colorectal cancer [PDF]

open access: yes, 2017
Metastatic dissemination of the primary tumor is the major cause of death in colorectal cancer (CRC) patients. Multiple chromosomal breaks and chromothripsis, a phenomenon involving multiple chromosomal fragmentations occurring in a single catastrophic ...
Daneberga, Zanda   +6 more
core   +1 more source

Comprehensive genomic profiling of mucosal melanoma reveals novel fusion transcripts and dysregulation of cell‐cycle, MAPK, and PI3K pathways

open access: yesThe Journal of Pathology, EarlyView.
Abstract Mucosal melanomas (MMs) are rare, aggressive cancers with poor outcomes and limited response to standard therapies. A significant knowledge gap exists regarding their genomic landscape and corresponding druggable targets. This study explores this issue through a multi‐omic analysis, including whole exome‐, RNA‐, and targeted sequencing, of ...
Matilde Monti   +21 more
wiley   +1 more source

Supplementary Figure 1 from Chromothripsis in Human Breast Cancer

open access: yes, 2020
Overall chromothripsis prevalence (DKFZ-HIPO17, WES), link with clinical outcome and chromothripsis 
occurrence per chromosome for each breast cancer ...
Shaymaa Elgaafary (14945289)   +17 more
core   +1 more source

Chromothripsis in acute myeloid leukemia: Biological features and impact on survival [PDF]

open access: yes, 2018
Chromothripsis is a one-step genome-shattering catastrophe resulting from disruption of one or few chromosomes in multiple fragments and consequent random rejoining and repair.
Emanuela Ottaviani   +53 more
core   +2 more sources

Mechanisms underpinning the progression of nondysplastic Barrett's oesophagus to cancer

open access: yesThe FEBS Journal, EarlyView.
Barrett's oesophagus confers a low but significant cancer risk. The condition is common but we do not have effective biomarkers to identify susceptible patients. We believe that there is no single factor that determines cancer risk and an understanding of the combinations of interactions (via gene expression and natural selection) between the Barrett's
Yannick H. Derwa   +2 more
wiley   +1 more source

Chromosomal Rearrangements and Chromothripsis: The Alternative End Generation Model

open access: yes, 2023
Chromothripsis defines a genetic phenomenon where up to hundreds of clustered chromosomal rearrangements can arise in a single catastrophic event. The phenomenon is associated with cancer and congenital diseases.
Aldo Spanjaard   +3 more
core   +1 more source

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