ArticleNature communications2018
Validating the concept of mutational signatures with isogenic cell models.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 89 papers.
What it found
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Who cites it
89 citing papers in PubMed.
- Tumour specific HORMAD1 expression perturbs mitotic arrest and drives sensitivity to mitotic kinase inhibitors.Nature communications · 2026Article
- The Mutational Epidemiology of Childhood Cancer.Clinical chemistry · 2025Review
- BASCULE: bayesian inference and clustering of mutational signatures leveraging biological priors.Genome biology · 2025Article
- Reconstructing the lifelong history of cells and tissues via somatic mutation analysis.Cellular and molecular life sciences : CMLS · 2025Review
- Precision Oncology: Current Landscape, Emerging Trends, Challenges, and Future Perspectives.Cells · 2025Review
- A Universal Duplex Sequencing Approach for Accurate Detection of Somatic Mutations.bioRxiv : the preprint server for biology · 2025Article
- Unveiling Replication Timing-Dependent Mutational Biases: Mechanistic Insights from Gene Knockouts and Genotoxins Exposures.International journal of molecular sciences · 2025Article
- Immunogenicity of autologous and allogeneic human primary cholangiocyte organoid cellular therapies.Cell reports. Medicine · 2025Article
- Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies.Genome medicine · 2025Article
- A Dirichlet-multinomial mixed model for determining differential abundance of mutational signatures.BMC bioinformatics · 2025Article
- Somatic Genomic and Transcriptomic Changes in Single Ischemic Human Heart Cardiomyocytes.Research square · 2025Article
- Comprehensive whole-genome sequencing reveals origins of mutational signatures associated with aging, mismatch repair deficiency and temozolomide chemotherapy.Nucleic acids research · 2025Article
- Methods and applications of genome-wide profiling of DNA damage and rare mutations.Nature reviews. Genetics · 2024Review
- Guide for generating single-cell-derived knockout clones in mammalian cell lines using the CRISPR/Cas9 system.Molecules and cells · 2024Article
- Pan-cancer analysis of the interplay between mutational signatures and cellular signaling.iScience · 2024Article
- Accurate and sensitive mutational signature analysis with MuSiCal.Nature genetics · 2024Article
- The chemotherapeutic drug CX-5461 is a potent mutagen in cultured human cells.Nature genetics · 2024Article
- Restriction site associated DNA sequencing for tumour mutation burden estimation and mutation signature analysis.Cancer medicine · 2023Article
- Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.Acta neuropathologica communications · 2023Article
- DNA mismatch repair protects the genome from oxygen-induced replicative mutagenesis.Nucleic acids research · 2023Article
29 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
Abstract
The diversity of somatic mutations in human cancers can be decomposed into individual mutational signatures, patterns of mutagenesis that arise because of DNA damage and DNA repair processes that have occurred in cells as they evolved towards malignancy. Correlations between mutational signatures and environmental exposures, enzymatic activities and genetic defects have been described, but human cancers are not ideal experimental systems-the exposures to different mutational processes in a patient's lifetime are uncontrolled and any relationships observed can only be described as an association. Here, we demonstrate the proof-of-principle that it is possible to recreate cancer mutational signatures in vitro using CRISPR-Cas9-based gene-editing experiments in an isogenic human-cell system. We provide experimental and algorithmic methods to discover mutational signatures generated under highly experimentally-controlled conditions. Our in vitro findings strikingly recapitulate in vivo observations of cancer data, fundamentally validating the concept of (particularly) endogenously-arising mutational signatures.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.