ArticleInternational journal of general medicine2021
CSMD3 is Associated with Tumor Mutation Burden and Immune Infiltration in Ovarian Cancer Patients.
Article in International journal of general medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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31 citing papers in PubMed, 59 citations in OpenAlex.
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- Improved tumor-type informed compared to tumor-informed mutation tracking for ctDNA detection and microscopic residual disease assessment in epithelial ovarian cancer.Journal of experimental & clinical cancer research : CR · 2025Article
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- Prognostic Value of Ubiquitination-Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity.Human mutation · 2025Article
- ITGA4 as a potential prognostic and immunotherapeutic biomarker in human cancer and its clinical significance in gastric cancer: an integrated analysis and validation.Frontiers in oncology · 2025Article
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- Population structure and selection signal analysis of indigenous sheep from the southern edge of the Taklamakan Desert.BMC genomics · 2024Article
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- Identification and Validation of a Novel Anoikis-Related Gene Signature for Predicting Survival in Patients With Serous Ovarian Cancer.World journal of oncology · 2024Article
- Integrative analysis of single-cell and bulk RNA-sequencing data revealed T cell marker genes based molecular sub-types and a prognostic signature in lung adenocarcinoma.Scientific reports · 2024Article
- Development and validation of a DNA damage repair-related gene-based prediction model for the prognosis of lung adenocarcinoma.Journal of thoracic disease · 2023Article
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- Whole-exome sequencing of rectal neuroendocrine tumors.Endocrine-related cancer · 2023Article
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8 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundGlobally, ovarian cancer (OC), the deadliest gynecologic malignancy, remains a major cause of mortality, with a rising number of cases in many low- and middle-income countries. Immunotherapy has been proven to be promising for OC. There is increasing awareness of the vital role that tumor mutation burden (TMB) plays in predicting the efficacy of immunotherapy. Women with a family history of OC are at higher risk of the disease due to gene mutations. However, whether these gene mutations are related to immune response and TMB remains to be explored.
methodsOur present work analyzed genetic mutation data of OC patients obtained from The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) cohorts, and we identified 11 frequently mutated genes, namely, APOB, CSMD3, DST, FAT3, FLG, HMCN1, MUC16, RYR1, TP53, TTN, and USH2A, in accordance with the overlap of two databases.
resultsA statistically higher TMB was detected by whole-exome sequencing in patients with OC with CSMD3 mutation than in those with mutations in the other frequently mutated genes. Prognosis analysis performed with patients from the TCGA cohort revealed that those with CSMD3 mutation had an overall survival (OS) that was inferior to that of those with wild-type CSMD3. Gene set enrichment analysis (GSEA) and CIBERSORT analysis indicated that OC samples with CSMD3 mutations had significant involvement of pathways related to the immune response.
conclusionIn summary, we found that CSMD3 mutation is highly correlated with increased TMB and poor clinical prognosis and that it might function as a biomarker for predicting prognosis and choosing an immunotherapy regimen.
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