ArticleScientific reports2019
Burden of unique and low prevalence somatic mutations correlates with cancer survival.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 72 citations in OpenAlex.
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- Prediction of immunotherapy response of bladder cancer with a pyroptosis-related signature indicating tumor immune microenvironment.Frontiers in pharmacology · 2024Article
- Mendelian Randomization Analysis reveals Inverse Genetic Risks between Skin Cancers and Vitiligo.JID innovations : skin science from molecules to population health · 2023Article
- Identification and validation of a novel anoikis-related long non-coding RNA signature for pancreatic adenocarcinoma to predict the prognosis and immune response.Journal of cancer research and clinical oncology · 2023Article
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- Exploratory genomic analysis of high-grade neuroendocrine neoplasms across diverse primary sites.Endocrine-related cancer · 2022Article
- Secreted phosphoprotein 1 as a potential prognostic and immunotherapy biomarker in multiple human cancers.Bioengineered · 2022Article
- Mutation of MUC16 Is Associated With Tumor Mutational Burden and Lymph Node Metastasis in Patients With Gastric Cancer.Frontiers in medicine · 2022Article
- Prognostic significance and identification of basement membrane-associated lncRNA in bladder cancer.Frontiers in oncology · 2022Article
- A Novel Risk Model for lncRNAs Associated with Oxidative Stress Predicts Prognosis of Bladder Cancer.Journal of oncology · 2022Article
- A Comprehensive Analysis of Pyroptosis-Related lncRNAs Signature Associated With Prognosis and Tumor Immune Microenvironment of Pancreatic Adenocarcinoma.Frontiers in genetics · 2022Article
- Chemokine CCL17 Affects Local Immune Infiltration Characteristics and Early Prognosis Value of Lung Adenocarcinoma.Frontiers in cell and developmental biology · 2022Article
- TCGA database analysis of the tumor mutation burden and its clinical significance in colon cancer.Journal of gastrointestinal oncology · 2021Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Tumor mutational burden correlates with improved survival and immunotherapy response in some malignancies, and with tumor aggressiveness in others. To study the link between mutational burden and survival, we analyzed survival effects of tumor exonic missense mutation burden (TEMMB) across 6947 specimens spanning 31 cancers which have undergone whole exome sequencing as part of TCGA. We adjusted TEMMB for age, sex, stage, and recruitment center, and computed Cox-proportional models of TEMMB survival effects. We assigned a recurrence score (RS) to each cohort, defining RS as the burden of recurrent mutations exceeding 1% population prevalence. High TEMMB was associated with improved survival in cutaneous melanoma: hazard ratio (HR) = 0.71 [0.60-0.85], p = 0.0002, urothelial bladder carcinoma: HR = 0.74 [0.59-0.93], p = 0.01, and ovarian carcinoma: HR = 0.80 [0.70-0.93], p = 0.003. High TEMMB was associated with decreased survival in colorectal adenocarcinoma: HR = 1.32 [1.00-1.74], p < 0.05. We identified that TEMMB survival effects were governed by the balance of recurrent and non-recurrent mutations. In cancers with a low RS, high TEMMB was correlated with better survival outcomes (r = 0.49, p = 0.02). In conclusion, TEMMB effects on survival depend on recurrent mutation enrichment; tumor types that are highly enriched in passenger mutations show a survival benefit in the setting of high tumor mutational burden.
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