Mutational signatures: emerging concepts, caveats and clinical applications

G Koh, A Degasperi, X Zou, S Momen… - Nature Reviews …, 2021 - nature.com
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …

[HTML][HTML] Spindle assembly checkpoint activation and silencing at kinetochores

P Lara-Gonzalez, J Pines, A Desai - Seminars in cell & developmental …, 2021 - Elsevier
The spindle assembly checkpoint (SAC) is a surveillance mechanism that promotes
accurate chromosome segregation in mitosis. The checkpoint senses the attachment state of …

Meningioma DNA methylation groups identify biological drivers and therapeutic vulnerabilities

A Choudhury, ST Magill, CD Eaton, BC Prager… - Nature …, 2022 - nature.com
Meningiomas are the most common primary intracranial tumors. There are no effective
medical therapies for meningioma patients, and new treatments have been encumbered by …

Chromothripsis as an on-target consequence of CRISPR–Cas9 genome editing

ML Leibowitz, S Papathanasiou, PA Doerfler… - Nature …, 2021 - nature.com
Genome editing has therapeutic potential for treating genetic diseases and cancer.
However, the currently most practicable approaches rely on the generation of DNA double …

Signatures of copy number alterations in human cancer

CD Steele, A Abbasi, SMA Islam, AL Bowes… - Nature, 2022 - nature.com
Gains and losses of DNA are prevalent in cancer and emerge as a consequence of inter-
related processes of replication stress, mitotic errors, spindle multipolarity and breakage …

The evolutionary dynamics of extrachromosomal DNA in human cancers

JT Lange, JC Rose, CY Chen, Y Pichugin, L Xie… - Nature …, 2022 - nature.com
Oncogene amplification on extrachromosomal DNA (ecDNA) is a common event, driving
aggressive tumor growth, drug resistance and shorter survival. Currently, the impact of …

Extrachromosomal DNA in the cancerous transformation of Barrett's oesophagus

J Luebeck, AWT Ng, PC Galipeau, X Li, CA Sanchez… - Nature, 2023 - nature.com
Oncogene amplification on extrachromosomal DNA (ecDNA) drives the evolution of tumours
and their resistance to treatment, and is associated with poor outcomes for patients with …

Aneuploidy and complex genomic rearrangements in cancer evolution

TM Baker, S Waise, M Tarabichi, P Van Loo - Nature cancer, 2024 - nature.com
Mutational processes that alter large genomic regions occur frequently in developing
tumors. They range from simple copy number gains and losses to the shattering and …

Causes and consequences of micronuclei

K Krupina, A Goginashvili, DW Cleveland - Current opinion in cell biology, 2021 - Elsevier
Micronuclei are small membrane-bounded compartments with a DNA content encapsulated
by a nuclear envelope and spatially separated from the primary nucleus. Micronuclei have …

Chromothripsis followed by circular recombination drives oncogene amplification in human cancer

C Rosswog, C Bartenhagen, A Welte, Y Kahlert… - Nature …, 2021 - nature.com
The mechanisms behind the evolution of complex genomic amplifications in cancer have
remained largely unclear. Using whole-genome sequencing data of the pediatric tumor …