ArticleCell reports. Medicine2024
Cancer mutational signatures identification in clinical assays using neural embedding-based representations.
Article in Cell reports. Medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed.
- APOBEC mutational signatures predict immune checkpoint inhibitor benefit in TMB-low metastatic NSCLC independent of PD-L1 status.ESMO open · 2026Article
- CBFB mutations predict endocrine therapy benefit in estrogen receptor-positive breast cancer.medRxiv : the preprint server for health sciences · 2026Article
- Article
- Consensus Copy-Number Alteration Signatures from Clinical Panels Enable Pan-Cancer Risk Stratification and Therapy Response Association.International journal of molecular sciences · 2026Article
- Combined inference of known and novel mutational signatures with ReDeNovo.bioRxiv : the preprint server for biology · 2026Article
- Mutational signatures in hematological malignancies.Einstein (Sao Paulo, Brazil) · 2026Review
- Reprogramming tumor immunity through APOBEC3s-mediated mutagenesis: from genome instability to immune checkpoint interactions.Frontiers in immunology · 2026Review
- Review
- Cancer and Environmental Xenobiotics: Mechanisms, Controversies, and Innovations.Journal of xenobiotics · 2025Review
- Joint inference of mutational signatures from indels and single-nucleotide substitutions reveals prognostic impact of DNA repair deficiencies.Genome medicine · 2025Article
- Evaluation of potential of targeted sequencing through mutational signature simulation.PloS one · 2025Article
- Viral infection, APOBEC3 dysregulation, and cancer.Frontiers in genetics · 2024Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While mutational signatures provide a plethora of prognostic and therapeutic insights, their application in clinical-setting, targeted gene panels is extremely limited. We develop a mutational representation model (which learns and embeds specific mutation signature connections) that enables prediction of dominant signatures with only a few mutations. We predict the dominant signatures across more than 60,000 tumors with gene panels, delineating their landscape across different cancers. Dominant signature predictions in gene panels are of clinical importance. These included UV, tobacco, and apolipoprotein B mRNA editing enzyme, catalytic polypeptide (APOBEC) signatures that are associated with better survival, independently from mutational burden. Further analyses reveal gene and mutation associations with signatures, such as SBS5 with TP53 and APOBEC with FGFR3
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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.