On the complexity of mechanisms and consequences of chromothripsis: an update

AS Koltsova, AA Pendina, OA Efimova… - Frontiers in …, 2019 - frontiersin.org
In the present review, we focus on the phenomenon of chromothripsis, a new type of
complex chromosomal rearrangements. We discuss the challenges of chromothripsis …

Chromoanagenesis: cataclysms behind complex chromosomal rearrangements

F Pellestor - Molecular cytogenetics, 2019 - Springer
Background During the last decade, genome sequencing projects in cancer genomes as
well as in patients with congenital diseases and healthy individuals have led to the …

The landscape of chromothripsis across adult cancer types

N Voronina, JKL Wong, D Hübschmann… - Nature …, 2020 - nature.com
Chromothripsis is a recently identified mutational phenomenon, by which a presumably
single catastrophic event generates extensive genomic rearrangements of one or a few …

Mutational signatures in tumours induced by high and low energy radiation in Trp53 deficient mice

Y Rose Li, KD Halliwill, CJ Adams, V Iyer, L Riva… - Nature …, 2020 - nature.com
Ionising radiation (IR) is a recognised carcinogen responsible for cancer development in
patients previously treated using radiotherapy, and in individuals exposed as a result of …

Chromothripsis in acute myeloid leukemia: biological features and impact on survival

MC Fontana, G Marconi, JDM Feenstra, E Fonzi… - Leukemia, 2018 - nature.com
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 …

Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders

J Kim, AY Huang, SL Johnson, J Lai, L Isacco… - Nature …, 2022 - nature.com
Replication errors and various genotoxins cause DNA double-strand breaks (DSBs) where
error-prone repair creates genomic mutations, most frequently focal deletions, and defective …

[HTML][HTML] Mutational game changer: Chromothripsis and its emerging relevance to cancer

MNH Luijten, JXT Lee, KC Crasta - Mutation Research/Reviews in Mutation …, 2018 - Elsevier
In recent years, the paradigm that genomic abnormalities in cancer cells arise through
progressive accumulation of mutational events has been challenged by the discovery of …

Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors

M Ratnaparkhe, JKL Wong, PC Wei, M Hlevnjak… - Nature …, 2018 - nature.com
Chromothripsis and chromoanasynthesis are catastrophic events leading to clustered
genomic rearrangements. Whole-genome sequencing revealed frequent complex genomic …

[HTML][HTML] Whole-genome sequencing reveals clinically relevant insights into the aetiology of familial breast cancers

K Nones, J Johnson, F Newell, AM Patch, H Thorne… - Annals of …, 2019 - Elsevier
Background Whole-genome sequencing (WGS) is a powerful method for revealing the
diversity and complexity of the somatic mutation burden of tumours. Here, we investigated …

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults

S Arniani, V Pierini, F Pellanera, C Matteucci… - Leukemia, 2022 - nature.com
Chromothripsis is a mitotic catastrophe that arises from multiple double strand breaks and
incorrect re-joining of one or a few chromosomes. We report on incidence, distribution, and …