Telomeres in cancer: tumour suppression and genome instability

J Maciejowski, T de Lange - Nature reviews Molecular cell biology, 2017 - nature.com
The shortening of human telomeres has two opposing effects during cancer development.
On the one hand, telomere shortening can exert a tumour-suppressive effect through the …

Extrachromosomal oncogene amplification in tumour pathogenesis and evolution

RGW Verhaak, V Bafna, PS Mischel - Nature Reviews Cancer, 2019 - nature.com
Recent reports have demonstrated that oncogene amplification on extrachromosomal DNA
(ecDNA) is a frequent event in cancer, providing new momentum to explore a phenomenon …

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 …

Chromothripsis drives the evolution of gene amplification in cancer

O Shoshani, SF Brunner, R Yaeger, P Ly… - Nature, 2021 - nature.com
Focal chromosomal amplification contributes to the initiation of cancer by mediating
overexpression of oncogenes,–, and to the development of cancer therapy resistance by …

[HTML][HTML] ERα-associated translocations underlie oncogene amplifications in breast cancer

JJK Lee, YL Jung, TC Cheong, J Espejo Valle-Inclan… - Nature, 2023 - nature.com
Focal copy-number amplification is an oncogenic event. Although recent studies have
revealed the complex structure,–and the evolutionary trajectories of oncogene amplicons …

Mechanisms generating cancer genome complexity from a single cell division error

NT Umbreit, CZ Zhang, LD Lynch, LJ Blaine… - Science, 2020 - science.org
INTRODUCTION The chromosome breakage-fusion-bridge (BFB) cycle is a catastrophic
mutational process, common during tumorigenesis, that results in gene amplification and …

Pan-cancer analysis of whole genomes

Nature, 2020 - nature.com
Cancer is driven by genetic change, and the advent of massively parallel sequencing has
enabled systematic documentation of this variation at the whole-genome scale,–. Here we …

Clinical sequencing of soft tissue and bone sarcomas delineates diverse genomic landscapes and potential therapeutic targets

BA Nacev, F Sanchez-Vega, SA Smith… - Nature …, 2022 - nature.com
The genetic, biologic, and clinical heterogeneity of sarcomas poses a challenge for the
identification of therapeutic targets, clinical research, and advancing patient care. Because …

Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing

I Cortés-Ciriano, JJK Lee, R **, D Jain, YL Jung… - Nature …, 2020 - nature.com
Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic
rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer …

[HTML][HTML] Patterns of somatic structural variation in human cancer genomes

Y Li, ND Roberts, JA Wala, O Shapira, SE Schumacher… - Nature, 2020 - nature.com
A key mutational process in cancer is structural variation, in which rearrangements delete,
amplify or reorder genomic segments that range in size from kilobases to whole …