Scrambling the genome in cancer: causes and consequences of complex chromosome rearrangements

K Krupina, A Goginashvili, DW Cleveland - Nature Reviews Genetics, 2024 - nature.com
Complex chromosome rearrangements, known as chromoanagenesis, are widespread in
cancer. Based on large-scale DNA sequencing of human tumours, the most frequent type of …

Targeting PARP proteins in acute leukemia: DNA damage response inhibition and therapeutic strategies

A Padella, A Ghelli Luserna Di Rorà, G Marconi… - Journal of hematology & …, 2022 - Springer
The members of the Poly (ADP‐ribose) polymerase (PARP) superfamily are involved in
several biological processes and, in particular, in the DNA damage response (DDR). The …

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

I Cortés-Ciriano, JJK Lee, R Xi, 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 …

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 …

Multi-omic and single-cell profiling of chromothriptic medulloblastoma reveals genomic and transcriptomic consequences of genome instability

P Smirnov, MJ Przybilla, M Simovic-Lorenz… - Nature …, 2024 - nature.com
Chromothripsis is a frequent form of genome instability, whereby a presumably single
catastrophic event generates extensive genomic rearrangements of one or multiple …

Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

S Aganezov, S Goodwin, RM Sherman… - Genome …, 2020 - genome.cshlp.org
Improved identification of structural variants (SVs) in cancer can lead to more targeted and
effective treatment options as well as advance our basic understanding of the disease and …

TP53 Mutations in Acute Myeloid Leukemia: Still a Daunting Challenge?

M Molica, C Mazzone, P Niscola… - Frontiers in oncology, 2021 - frontiersin.org
TP53 is a key tumor suppressor gene with protean functions associated with preservation of
genomic balance, including regulation of cellular senescence, apoptotic pathways …

Loss of RanGAP1 drives chromosome instability and rapid tumorigenesis of osteosarcoma

Y Gong, S Zou, D Deng, L Wang, H Hu, Z Qiu, T Wei… - Developmental Cell, 2023 - cell.com
Chromothripsis is a catastrophic event of chromosomal instability that involves intensive
fragmentation and rearrangements within localized chromosomal regions. However, its …

Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma

KH Maclachlan, EH Rustad, A Derkach… - Nature …, 2021 - nature.com
Abstract Chromothripsis is detectable in 20–30% of newly diagnosed multiple myeloma
(NDMM) patients and is emerging as a new independent adverse prognostic factor. In this …

The complex karyotype in hematological malignancies: a comprehensive overview by the Francophone Group of Hematological Cytogenetics (GFCH)

F Nguyen-Khac, A Bidet, A Daudignon… - Leukemia, 2022 - nature.com
Karyotype complexity has major prognostic value in many malignancies. There is no
consensus on the definition of a complex karyotype, and the prognostic impact of karyotype …