ArticleNature communications2019
Genomic signatures reveal DNA damage response deficiency in colorectal cancer brain metastases.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 1 of them a synthesis that pooled it.
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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
61 citing papers in PubMed, 1 synthesis or guideline pooled it, 89 citations in OpenAlex.
- Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma.Scientific reports · 2021Pooled it
- Adjuvant nivolumab in muscle-invasive urothelial carcinoma: exploratory biomarker analysis of the randomized phase 3 CheckMate 274 trial.Nature medicine · 2025Trial
- Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.Genome medicine · 2021Trial
- A system-level metastable model of cancer evolution: integrating replication stress, cell cycle deregulation and chromosomal instability.Annals of medicine · 2026Review
- Targeting O6-methylguanine-DNA Methyltransferase Deficiency in Preclinical Models of Extracranial Human Cancers with a Tumor-Selective DNA-Modifying Agent.Molecular cancer therapeutics · 2026Article
- Single-cell profiling reveals distinct populations of tumor-associated macrophages and metastatic tumor cells in breast cancer brain metastasis.Cell death & disease · 2026Article
- The impact of CHEK2 status on radiosurgical outcomes in breast cancer brain metastases.Neurosurgical review · 2026Article
- Brain metastases among patients with gynecologic cancers: a single-centre retrospective study of patients treated with brain radiotherapy.Journal of neuro-oncology · 2026Article
- Case Report: Cerebral metastasis following standard therapy in BRAF/KRAS wild-type colorectal cancer: an unusual presentation of disease progression.Frontiers in oncology · 2026Article
- Lectin-Directed Protein Aggregation Therapy toward Hyperfucosylated and Hypersialylated Metastatic Colorectal Cancers.Biomaterials research · 2026Article
- Genomics correlates of brain metastasis and progression in colorectal cancer.Neuro-oncology · 2025Article
- Biomarkers of immunotherapy response in neuro-oncology.Neuro-oncology advances · 2025Review
- MultiplexedbioRxiv : the preprint server for biology · 2025Article
- Progress in personalized immunotherapy for patients with brain metastasis.NPJ precision oncology · 2025Review
- GNG2 inhibits brain metastases from colorectal cancer via PI3K/AKT/mTOR signaling pathway.Scientific reports · 2025Article
- The heterogeneity of genomic alterations, metastatic patterns and immune microenvironment in metastatic ovarian cancer originating from colorectal cancer.Frontiers in immunology · 2025Article
- Research progress of colorectal cancer in genomic and transcriptomic at multi-level.Frontiers in genetics · 2025Review
- Genes to therapy: a comprehensive literature review of whole-exome sequencing in neurology and neurosurgery.European journal of medical research · 2024Review
- TGFβ signalling pathway impacts brain metastases profiles in locally advanced colorectal cancer.Clinical & experimental metastasis · 2024Article
- A case of dMMR/MSI-H/TMB-H colon cancer with brain metastasis treated with PD-1 monoclonal antibody.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2024Article
1 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
21 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Brain metastases (BM) of colorectal cancer (CRC) are rare but lethal, and an understanding of their genomic landscape is lacking. We conduct an analysis of whole-exome sequencing (WES) and whole-genome sequencing (WGS) data on 19 trios of patient-matched BMs, primary CRC tumors, and adjacent normal tissue. Compared with primary CRC, BM exhibits elevated mutational signatures of homologous recombination deficiency (HRD) and mismatch repair deficiency (MMRD). Further analysis reveals two DNA damage response (DDR) signatures could emerge early and are enhanced in BM tissues but are eliminated eventually in matched primary CRC tissues. BM-specific mutations in DDR genes and elevated microsatellite instability (MSI) levels support the importance of DDR in the brain metastasis of CRC. We also identify BM-related genes (e.g., SCN7A, SCN5A, SCN2A, IKZF1, and PDZRN4) that carry frequent BM-specific mutations. These results provide a better understanding of the BM mutational landscape and insights into treatment.
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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.