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

Source: https://onco.cc/key-papers/paper-cortes-ciriano-nat-genet/  
OnCo record `paper-cortes-ciriano-nat-genet` (Key paper). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)"; commercial use needs a licence.

## TL;DR

Paper cited by one term page, indexed on Europe PMC as PubMed record 32025003 and published in Nature Genetics; the citing page links this DOI, which is how the record was matched.

## Summary

Chromothripsis is a mutational phenomenon characterized by massive, clustered genomic rearrangements that occurs in cancer and other diseases. Recent studies in selected cancer types have suggested that chromothripsis may be more common than initially inferred from low-resolution copy-number data. Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA), we analyze patterns of chromothripsis across 2,658 tumors from 38 cancer types using whole-genome sequencing data. We find that chromothripsis events are pervasive across cancers, with a frequency of more than 50% in several cancer types. Whereas canonical chromothripsis profiles display oscillations between two copy-number states, a considerable fraction of events involve multiple chromosomes and additional structural alterations. In addition to non-homologous end joining, we detect signatures of replication-associated processes and templated insertions. Chromothripsis contributes to oncogene amplification and to inactivation of genes such as mismatch-repair-related genes. These findings show that chromothripsis is a major process that drives genome evolution in human cancer.

Indexed on Europe PMC as PubMed record 32025003 (DOI 10.1038/s41588-019-0576-7). Matched by DOI alone: one term page cites this DOI among its external links (the pages are listed under Related), and this page was written so that the citation resolves inside OnCo. No figure has been checked by an editor.

## Fields

- Kind: Key paper
- Last checked: 2026-09-22
- Tags: europepmc-ingest
- Journal: Nature Genetics
- Year: 2020
- DOI: 10.1038/s41588-019-0576-7
- Authors: Cortés-Ciriano I, Lee JJ, Xi R, et al.
- What it means: One term page on OnCo cites this paper by its DOI; this record gives the citation a page of its own so a reader can follow it without leaving OnCo. Read the abstract above alongside the citing page listed under Related; the record was created automatically from the Europe PMC entry and its figures have not been checked by hand.
- Caveats: Matched to the citing OnCo records by DOI alone; the summary reproduces the Europe PMC abstract and no figure has been verified against the full paper.

## Sources

- Nat Genet 2020: https://doi.org/10.1038/s41588-019-0576-7
- PubMed: https://pubmed.ncbi.nlm.nih.gov/32025003/
- Europe PMC: https://europepmc.org/article/MED/32025003

## Connected records

- terms: [Aneuploidy and chromosomal instability as the cause of cancer](https://onco.cc/terms/aneuploidy-theory-of-cancer/)
- journals: [Nature Genetics](https://onco.cc/journals/nature-genetics/)

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