Breakage in breakage-fusion-bridge cycle: an 80-year-old mystery

Article Multidisciplinary Sciences

Chromothripsis drives the evolution of gene amplification in cancer

Ofer Shoshani et al.

Summary: The study reveals that chromothripsis is a major driver of circular extrachromosomal DNA (ecDNA) amplification, mediated by poly(ADP-ribose) polymerases (PARP) and DNA-dependent protein kinase (DNA-PKcs). The structural evolution of ecDNAs further increases drug tolerance, leading to rapid acquisition of tolerance to altered growth conditions. This mechanism accelerates genomic DNA rearrangement and amplification into ecDNA, contributing to cancer therapy resistance.

NATURE (2021)

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Article Multidisciplinary Sciences

Structural variant evolution after telomere crisis

Sally M. Dewhurst et al.

Summary: Telomere crisis has been found to induce chromothripsis and breakage fusion bridge (BFB) cycles in vitro. This study shows that telomere crisis can generate a broader spectrum of structural variations, suggesting that cancers without chromothripsis and BFB cycles may have also originated from telomere crisis.

NATURE COMMUNICATIONS (2021)

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Article Biochemistry & Molecular Biology

A new assay capturing chromosome fusions shows a protection trade-off at telomeres and NHEJ vulnerability to low-density ionizing radiation

Sabrina Pobiega et al.

Summary: Chromosome fusions play a critical role in genome stability, particularly in cells with telomere dysfunctions or exposed to DNA breakage. Genetic analysis in budding yeast can quantify the basal rate of chromosome fusions, showing that factors at telomeres influence fusion occurrence. The study also provides evidence of chromosomal rearrangements induced by ionizing radiation.

NUCLEIC ACIDS RESEARCH (2021)

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Article Multidisciplinary Sciences