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 …

Extrachromosomal DNA amplifications in cancer

E Yi, R Chamorro González, AG Henssen… - Nature Reviews …, 2022 - nature.com
Extrachromosomal DNA (ecDNA) amplification is an important driver alteration in cancer. It
has been observed in most cancer types and is associated with worse patient outcome. The …

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 …

Most large structural variants in cancer genomes can be detected without long reads

ZN Choo, JM Behr, A Deshpande, K Hadi, X Yao… - Nature Genetics, 2023 - nature.com
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …

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 …

Identifying synergistic high-order 3D chromatin conformations from genome-scale nanopore concatemer sequencing

AS Deshpande, N Ulahannan, M Pendleton… - Nature …, 2022 - nature.com
Abstract High-order three-dimensional (3D) interactions between more than two genomic
loci are common in human chromatin, but their role in gene regulation is unclear. Previous …

[HTML][HTML] Single-cell genomic variation induced by mutational processes in cancer

T Funnell, CH O'Flanagan, MJ Williams, A McPherson… - Nature, 2022 - nature.com
How cell-to-cell copy number alterations that underpin genomic instability in human cancers
drive genomic and phenotypic variation, and consequently the evolution of cancer, remains …

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 …

[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 …

Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma

K Helmsauer, ME Valieva, S Ali… - Nature …, 2020 - nature.com
MYCN amplification drives one in six cases of neuroblastoma. The supernumerary gene
copies are commonly found on highly rearranged, extrachromosomal circular DNA (ecDNA) …