ArticleBioMed research international2021
Bioinformatic Analysis of Immune Significance of RYR2 Mutation in Breast Cancer.
Article in BioMed research international, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 23 citations in OpenAlex.
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- TMB as a predictive biomarker for ICI response in TNBC: current evidence and future directions for augmented anti-tumor responses.Clinical and experimental medicine · 2025Review
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- The KRAS G12D mutation increases the risk of unresectable recurrence of resectable colorectal liver-only metastasis.Surgery today · 2025Article
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- FAT4 Mutation is Related to Tumor Mutation Burden and Favorable Prognosis in Gastric Cancer.Current genomics · 2024Article
- Drug resistance related genes in lung adenocarcinoma predict patient prognosis and influence the tumor microenvironment.Scientific reports · 2023Article
- Molecular characterization of colorectal adenoma and colorectal cancer via integrated genomic transcriptomic analysis.Frontiers in oncology · 2023Article
- A novel immunogenic cell death-related subtype classification and risk signature for predicting prognosis and immunotherapy efficacy in gastric cancer.Frontiers in immunology · 2023Article
- Prognostic and immunological significance of calcium-related gene signatures in renal clear cell carcinoma.Frontiers in pharmacology · 2022Article
- Cuproptosis patterns and tumor immune infiltration characterization in colorectal cancer.Frontiers in genetics · 2022Article
- A Novel Artificial Neural Network Prognostic Model Based on a Cancer-Associated Fibroblast Activation Score System in Hepatocellular Carcinoma.Frontiers in immunology · 2022Article
- Identification of a Novel Risk Model: A Five-Gene Prognostic Signature for Pancreatic Cancer.Evidence-based complementary and alternative medicine : eCAM · 2022Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCurrently, immunotherapy is widely used for breast cancer (BC) patients, and tumor mutation burden (TMB) is regarded as a valuable independent predictor of response to immunotherapy. However, specific gene mutations and their relationship with TMB and tumor-infiltrating immune cells in BC are not fully understood.
methodsComprehensive bioinformatic analyses were performed using data from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) datasets. Survival curves were analyzed via Kaplan-Meier analysis. Univariate and multivariate Cox regression analyses were used for prognosis analysis. Gene set enrichment analysis (GSEA) was performed to explore regulatory mechanisms and functions. The CIBERSORT algorithm was used to calculate the tumor-infiltrating immune cell fractions.
resultsWe analyzed somatic mutation data of BC from TCGA and ICGC datasets and found that 19 frequently mutated genes were reported in both cohorts, namely, SPTA1, TTN, MUC17, MAP3K1, CDH1, FAT3, SYNE1, FLG, HMCN1, RYR2 (ryanodine receptor 2), GATA3, MUC4, PIK3CA, KMT2C, TP53, PTEN, ZFHX4, MUC16, and USH2A. Among them, we observed that RYR2 mutation was significantly associated with higher TMB and better clinical prognosis. Moreover, GSEA revealed that RYR2 mutation-enriched signaling pathways were related to immune-associated pathways. Furthermore, based on the CIBERSORT algorithm, we found that RYR2 mutation enhanced the antitumor immune response by enriching CD8+ T cells, activated memory CD4+ T cells, and M1 macrophages.
conclusionRYR2 is frequently mutated in BC, and its mutation is related to increased TMB and promotes antitumor immunity; thus, RYR2 may serve as a valuable biomarker to predict the immune response.
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