ArticleDiagnostic pathology2020
High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas.
Article in Diagnostic pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Evaluating Tumour Mutational Burden as a Key Biomarker in Personalized Cancer Immunotherapy: A Pan-Cancer Systematic Review.Cancers · 2025Pooled it
- The search for a TNBC vaccine: the guardian vaccine.Cancer biology & therapy · 2025Review
- Overcoming resistance to anti-PD-L1 immunotherapy: mechanisms, combination strategies, and future directions.Molecular cancer · 2025Review
- Genomic characterization of tumor mutational burden-high breast carcinomas.NPJ precision oncology · 2025Article
- Pancancer analysis of DNA damage repair gene mutations and their impact on immune regulatory gene expression.Scientific reports · 2025Article
- The application of emerging immunotherapy in the treatment of prostate cancer: progress, dilemma and promise.Frontiers in immunology · 2025Review
- Article
- The Clinical Significance of Genetic Variation in Ovarian Cancer.International journal of molecular sciences · 2023Article
- Pathogenic variant profile in DNA damage response genes correlates with metastatic breast cancer progression-free survival in a Mexican-mestizo population.Frontiers in oncology · 2023Article
- The role of DNA damage repair (DDR) system in response to immune checkpoint inhibitor (ICI) therapy.Journal of experimental & clinical cancer research : CR · 2022Review
- Genomic Analysis of Waterpipe Smoke-Induced Lung Tumor Autophagy and Plasticity.International journal of molecular sciences · 2022Article
- Breast cancer vaccines for treatment and prevention.Breast cancer research and treatment · 2022Review
- Association of Homologous Recombination-DNA Damage Response Gene Mutations with Immune Biomarkers in Gastroesophageal Cancers.Molecular cancer therapeutics · 2022Article
- Somatic DNA Damage Response and Homologous Repair Gene Alterations and Its Association With Tumor Variant Burden in Breast Cancer Patients With Occupational Exposure to Pesticides.Frontiers in oncology · 2022Article
- Weighted Gene Coexpression Network Analysis Identifies TBC1D10C as a New Prognostic Biomarker for Breast Cancer.Analytical cellular pathology (Amsterdam) · 2022Article
- Precision Breast Cancer Medicine: Early Stage Triple Negative Breast Cancer-A Review of Molecular Characterisation, Therapeutic Targets and Future Trends.Frontiers in oncology · 2022Review
- Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology.Frontiers in oncology · 2022Article
- Immunotherapy in Breast Cancer: When, How, and What Challenges?Biomedicines · 2021Review
- Multitumor Case Series of GermlineCurrent oncology (Toronto, Ont.) · 2021Article
- DNA Damage Repair Gene Set as a Potential Biomarker for Stratifying Patients with High Tumor Mutational Burden.Biology · 2021Article
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundImmunotherapy has demonstrated encouraging clinical benefits in patients with advanced breast carcinomas and Programmed death ligand 1 (PD-L1) expression has been proposed as an immunotherapy biomarker. Challenges with current PD-L1 testing exist and tumor mutation burden (TMB) is emerging as a biomarker to predict clinical response to immunotherapy in melanoma and non-small cell lung cancer patients. However, TMB has not been well characterized in breast carcinomas.
methodsThe study cohort included 62 advanced breast cancer patients (13 primary and 49 metastatic). Genetic alterations and TMB were determined by FoundationOne CDx next generation sequencing (NGS) and the association with clinicopathologic features was analyzed.
resultsHigh TMB was observed in a relatively low frequency (3/62, 4.8%). TMB levels were positively associated tumor infiltrating lymphocytes and significantly higher TMB was observed in breast carcinomas with DNA damage repair gene mutation(s). There was no significant association between TMB levels and other analyzed clinicopathologic characteristics.
conclusionsOur data indicate the importance of DNA damage repair proteins in maintaining DNA integrity and immune reaction and breast carcinoma patients with DDR mutation may benefit from immunotherapy.
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