Abstract
In recent years, the emergence of immunotherapy has provided a new perspective for the treatment and management of triple-negative breast cancer (TNBC). However, the relationship between tumor mutation burden (TMB) and immune infiltration and the prognosis of TNBC remains unclear. In this study, to explore the immunogenicity of TNBC, we divided patients with TNBC into high and low TMB groups based on the somatic mutation data of TNBC in The Cancer Genome Atlas (TCGA), and screened out genes with mutation rate ≥10. Then, Kaplan-Meier survival analysis revealed that the 5-year survival rate of the high TMB group was much higher than that of the low TMB group and the two groups also showed differences in immune cell infiltration. Further exploration found that the FAT3 gene, which displays significant difference and a higher mutation rate between the two groups, is not only significantly related to the prognosis of TNBC patients but also exhibits difference in immune cell infiltration between the wild group and the mutant group of the FAT3 gene. The results of gene set enrichment analysis and drug sensitivity analysis further support the importance of the FAT3 gene in TNBC. This study reveals the characteristics of TMB and immune cell infiltration in triple-negative breast cancer and their relationship with prognosis, to provide new biomarkers and potential treatment options for the future treatment of TNBC. The FAT3 gene, as a risk predictor gene of TNBC, is considered a potential biological target and may provide new insight for the treatment of TNBC.
Highlights
In recent years, immune checkpoint inhibitors have been used in immunotherapy for cancer treatment and have attracted worldwide attention
To further explore the immunogenicity of triple-negative breast cancer (TNBC), i) we investigated differences in immune cell infiltration between high and low tumor mutation loads, differences in key pathways, and correlation to the prognosis of TNBC; ii) we analyzed the difference in immune cell infiltration between the wild and mutation group; iii) In order to identify biomarkers related to the prognosis of TNBC, we screened and identified a prognostic gene related to TNBC, the key mutation gene FAT3
The survival outcome of the high tumor mutation burden (TMB) group is better, consistent with previous research results, our research shows the potential of TMB as a prognostic indicator for patients with TNBC
Summary
Immune checkpoint inhibitors have been used in immunotherapy for cancer treatment and have attracted worldwide attention. Programmed death-1 (PD-1) and its ligand (PD-L1) inhibitors are used as immune checkpoint monoclonal antibodies, and the reports on the breadth, depth, and durability of their responses are few. These inhibitors have become a hot topic in the research of various tumor immunotherapies, including breast cancer [1]. Tumor mutation burden (TMB), one of the biomarkers that has a greater correlation with the efficacy of the PD-1 antibody, can reflect the total number of mutations carried by tumor cells and has been proven to play an important role in the treatment of a variety of cancers with mutations, including breast cancer and rectal cancer [2,3,4]. The role of TMB— a biomarker that has greater correlation with the efficacy of PD-1 antibodies— in the immunogenicity of TNBC remains unclear, and further studies are needed
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