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

Nature genetics - 1 Mar 2020

Cortés-Ciriano Isidro, Lee Jake June-Koo, Xi Ruibin, Jain Dhawal, Jung Youngsook L, Yang Lixing, Gordenin Dmitry, Klimczak Leszek J, Zhang Cheng-Zhong, Pellman David S, Park Peter J

Abstract excerpt

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...

Topics

Chromothripsis
Evolution, Molecular
Genome, Human
Genomics
Humans
Mutation
Neoplasms
Whole Genome Sequencing

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 32025003
DOI: 10.1038/s41588-019-0576-7
PMCID: PMC7058534

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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