Cancer Genomes Evolve by Pulverizing Single Chromosomes
Open accessAbstract
A report in this issue describes "chromothripsis," a new mechanism for genetic instability in cancer cells. Chromothripsis appears to be a cataclysmic event in which a single chromosome is fragmented and then reassembled. The phenomenon raises important questions of how chromosome rearrangements can be confined to defined genome segments.
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SVs and CNVs represent a significant portion of the genetic variation responsible for clinical phenotypes such as cancer and rare genetic disorders.
“Over the past decade, we and others have highlighted that not only SNVs and indels but also SVs and CNVs represent a significant portion of the genetic variation responsible for clinical phenotypes70,71, such as cancer and rare genetic disorders.”
From Comprehensive genome analysis and variant detection at scale using DRAGEN (2025) · cites this paper as [71]
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Frühmesser, A., Erdel, M., Duba, H., Fauth, C., Amberger, A., Utermann, G., Zschocke, J., & Kotzot, D. (2013) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2013.04.003 · Cited by 2 · see citing works
Chromothripsis in Hepatocarcinogenesis: The Role of a Micronuclear Aberration and Polyploidy
Uryvaeva, I. V., Mikaelyan, A. S., Dashenkova, N. O., & Маршак, Т. Л. (2018) · Biology Bulletin · doi:10.1134/s1062359018050163 · Cited by 2 · see citing works
Molecular pathology of osteosarcoma
Fei, F., Harada, S., Wei, S., & Siegal, G. P. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-821666-8.00029-3 · Cited by 2 · see citing works
Integrative spatial multi-omics reveals prognostic tumor niches in female genital tumorsPreprint
Tian, X., Lin, S., Wu, Y., He, Y., Zhang, Z., Zhao, Y., Zhang, P., Zhao, L., Yang, W., Ye, M., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.11.24.690313 · Cited by 2 · see citing works
Константиновна, К. Е., Fi, I., & Akhaltseva, L. V. (2021) · Hygiene and Sanitation · doi:10.47470/0016-9900-2021-100-10-1151-1156 · Cited by 1 · see citing works
Chromoanagenesis in Plants for Crop Improvement and Evolution
Sivasankarreddy, K., Joseph, J., Upadhyay, A. K., Fahida, P. K., Edakkalathur, A. I., & Antony, P. D. (2025) · Cytology and Genetics · doi:10.3103/s009545272501013x · Cited by 1 · see citing works
Identification of Chromothripsis in Biopsy Using SNP-Based Microarray
Ortega, V., Mendiola, C., & Velagaleti, G. V. N. (2018) · Methods in molecular biology · doi:10.1007/978-1-4939-7780-2_7 · Cited by 1 · see citing works
Molecular Morphogenesis and Genetic Mechanisms of Spinal Chordoma
Liu, C. J., Liu, A., & Bettegowda, C. (2021) · Springer eBooks · doi:10.1007/978-3-030-76201-8_2 · Cited by 1 · see citing works
- Authors
- Meyerson, M., & Pellman, D.
- Affiliations
- Broad Institute (US)
- Boston Children's Hospital (US)
- Corresponding author
- Meyerson, Matthew
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2011-01
- Volume
- 144
- Issue
- 1
- Pages
- 9-10
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2165664339
- Cited by
- 115
- References
- 10
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 7 · 2023: 9 · 2022: 5 · 2021: 6 · 2020: 5 · 2019: 8 · 2018: 13 · 2017: 7 · 2016: 9 · 2015: 7 · 2014: 10 · 2013: 9 · 2012: 6
- FWCI
- 6.40
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Keywords
- chromothripsis, chromosomal instability, chromosome fragmentation, chromosomal rearrangements, cancer genome, genome evolution
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