ArticleEuropean journal of medical research2023
The prognostic value of tumor mutation burden (TMB) and its relationship with immune infiltration in breast cancer patients.
Article in European journal of medical research, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 15 citations in OpenAlex.
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- Integrative single-cell transcriptomics and co-expression network analysis identify SIMALR as a prognostic immune-related lncRNA in breast cancer: in silico analysis and validation.Naunyn-Schmiedeberg's archives of pharmacology · 2026Article
- Identification of targets of clinical FOXA1 mutants involved in EMT and immune suppression in prostate cancer.Communications biology · 2026Article
- Molecular characterization of mammary mucinous cystadenocarcinoma reveals recurrent TP53 and RB1 alterations with frequent PI3K-AKT pathway abnormalities.Virchows Archiv : an international journal of pathology · 2026Article
- KRT80 promotes colon adenocarcinoma progression via stat3 pathway activation and immune microenvironment remodeling.Translational cancer research · 2026Article
- Revolutionizing breast cancer immunotherapy by integrating AI and nanotechnology approaches: review of current applications and future directions.Bioelectronic medicine · 2025Review
- Comprehensive analysis Neddylation-related genes identified UBB as a prognostic biomarker for clear cell renal cell carcinoma.Discover oncology · 2025Article
- Investigating the Prognostic Role of Telomerase-Related Cellular Senescence Gene Signatures in Breast Cancer Using Machine Learning.Biomedicines · 2025Article
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- PRSS3 is a potential prognostic biomarker for lung adenocarcinoma.Translational cancer research · 2025Article
- Aluminum Concentration Is Associated with Tumor Mutational Burden and the Expression of Immune Response Biomarkers in Colorectal Cancers.International journal of molecular sciences · 2024Article
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- Comprehensive machine learning-based integration develops a novel prognostic model for glioblastoma.Molecular therapy. Oncology · 2024Article
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11 authors at 1 institution in 1 country.
Funding
Abstract
objectiveAlthough the tumor mutation burden (TMB) was reported as a biomarker for immunotherapy of various cancers, whether it can effectively predict the survival prognosis in breast cancer patients remains unclear. In this study, the prognostic value of TMB and its correlation with immune infiltration were explored by using multigroup studies.
methodsThe somatic mutation data of 986 breast cancer patients were obtained from TCGA database. Breast cancer patients were divided into a low-TMB group and a high-TMB group according to the quartile of TMB scores. The differentially expressed genes (DEGs) were identified by the "limma" R program. The CIBERSORT algorithm was utilized to estimate the immune cell fraction of each sample. The TIMER database was utilized to evaluate the association between CNVs of immune genes and tumor immune cell infiltration and the prognostic value of the immune cells in breast cancer.
resultsIn breast cancer, TP53, PIK3CA, TTN, CDH1 and other genes were the most important mutated genes. Higher survival rate of patients was found in the low-TMB group. Among the top 10 DEGs, three of them belong to the KRT gene family. GSEA enrichment analysis showed that MAPK, Hedgehog, mTOR, TGF-bate and GnRH signaling pathways were enriched in the low-TMB group. The infiltration levels of the most of immune cells were higher in the low-TMB group (P < 0.01). Higher expression of CCL18 and TRGC1 was correlated with poor prognosis. Breast cancer patients with CCL18 copy number variations, especially arm-level gains, showed significantly decreased immune cell infiltration. In the low B cell infiltration group, the survival prognosis of breast cancer patients was poor.
conclusionsTMB is a potential prognosis marker in breast cancer. Immune-related gene CCL18 and TRGC1 are biomarkers of poor prognosis while immune (B cell) infiltration is a biomarker of good prognosis.
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