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    BIOMARKER:

    MUC16 mutation

    i
    Other names: MUC16, Mucin 16, Cell Surface Associated, Ovarian Cancer-Related Tumor Marker CA125, Ovarian Carcinoma Antigen CA125, Mucin-16, CA125, CA125 Ovarian Cancer Antigen, Mucin-16 Short Isoform, Mucin-16 Long Isoform, CA-125, MUC-16
    Entrez ID:
    94025
    Related biomarkers:
    Expression
    Others
    22h
    Integrated proteogenomic and metabolomic characterization of papillary thyroid cancer with different recurrence risks. (PubMed, Nat Commun)
    Notably, the subtypes display significant differences considering BRAF and TERT promoter mutations, metabolism and immune pathway profiles, epithelial cell compositions, and various clinical factors (especially RRs and prognosis) as well as druggable targets. This study can provide insights into the complex molecular characteristics of PTC recurrences and help promote early diagnosis and precision treatment of recurrent PTC.
    Journal • Metabolomic study
    |
    BRAF (B-raf proto-oncogene) • TERT (Telomerase Reverse Transcriptase) • MUC16 (Mucin 16, Cell Surface Associated) • NCOA4 (Nuclear Receptor Coactivator 4)
    |
    BRAF mutation • MUC16 mutation • TERT mutation • TERT promoter mutation
    17d
    Characterizing and forecasting neoantigens-resulting from MUC mutations in COAD. (PubMed, J Transl Med)
    Together, our findings establish the immunogenicity and therapeutic potential of mutant MUC family-derived neoantigens. Through combining the tools of TSNAdb and DAI, a group of novel MUCmut neoantigens were identified as potential targets for immunotherapy.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MUC16 (Mucin 16, Cell Surface Associated) • MUC4 (Mucin 4, Cell Surface Associated) • MUC13 (Mucin 13) • MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) • MUC2 (Mucin 2) • MUC20 (Mucin 20 Cell Surface Associated) • MUC17 (Mucin 17) • MUC6 (Mucin 6)
    |
    TMB-H • MUC16 mutation • MUC5B mutation
    3ms
    Durvalumab with or without tremelimumab plus chemotherapy in HRR non-mutated, platinum-resistant ovarian cancer (KGOG 3045): A phase II umbrella trial. (PubMed, Gynecol Oncol)
    Dual immunotherapy with chemotherapy showed acceptable response rates and tolerable safety in HRR non-mutated PROC, warranting continued clinical investigation.
    P2 data • Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • HRD (Homologous Recombination Deficiency) • MUC16 (Mucin 16, Cell Surface Associated) • EPCAM (Epithelial cell adhesion molecule) • FOXP3 (Forkhead Box P3) • PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa)
    |
    PD-L1 expression • PD-L1 overexpression • MUC16 mutation • EPCAM expression • PD-L1-L • FOXP3 expression
    |
    Imfinzi (durvalumab) • Imjudo (tremelimumab)
    4ms
    Analysis of the feasibility and prognostic value of circulating tumor DNA monitoring in detecting gene mutations in patients with diffuse large B-cell lymphoma receiving chimeric antigen receptor T-cell therapy (PubMed, Zhonghua Xue Ye Xue Za Zhi)
    ctDNA detection can serve as a tool for evaluating the efficacy of CAR-T-cell therapy in patients with R/R DLBCL. The pretreatment gene mutation burden, mutations in MUC16 and BTG2 have potential prognostic value.
    Journal • CAR T-Cell Therapy • Tumor mutational burden • IO biomarker • Circulating tumor DNA
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • IGLL5 (Immunoglobulin Lambda Like Polypeptide 5) • BTG2 (BTG Anti-Proliferation Factor 2)
    |
    TP53 mutation • MUC16 mutation
    5ms
    Comprehensive characterization of MUC16 mutations in lung adenocarcinoma for immunotherapies and prognosis: An observational study. (PubMed, Medicine (Baltimore))
    Moreover, the nomogram using the IPM and clinical prognostic factors also predicted the overall survival and clinical utility. Our project developed a robust risk signature depending on the MUC16 status and provided novel insights for individualized treatment options for LUAD patients.
    Observational data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • PD-1 (Programmed cell death 1) • IFNG (Interferon, gamma) • LAG3 (Lymphocyte Activating 3) • MUC16 (Mucin 16, Cell Surface Associated) • SIGLEC15 (Sialic Acid Binding Ig Like Lectin 15)
    |
    PD-L1 expression • TMB-H • LAG3 expression • MUC16 mutation • MUC16 expression
    6ms
    Establishment of a Dynamic Ctdna Monitoring System to Predict the Prognosis of CAR-T Cell Therapy in R/R B-NHL Patients (ASH 2023)
    In this study, we evaluated the characteristics of gene mutation between different therapeutic groups, and a gene set was screened to predict the efficacy of CAR-T cell therapy in R/R B-NHL patients, helping clinicians accurately evaluate the efficacy and assisting in decision-making of treatment options.
    Clinical • CAR T-Cell Therapy • IO biomarker • Circulating tumor DNA
    |
    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • KMT2D (Lysine Methyltransferase 2D) • MUC16 (Mucin 16, Cell Surface Associated) • FAT1 (FAT atypical cadherin 1) • CARD11 (Caspase Recruitment Domain Family Member 11) • BTG2 (BTG Anti-Proliferation Factor 2)
    |
    TP53 mutation • CDKN2A mutation • MUC16 mutation
    7ms
    Whole-Exome Sequencing Reveals High Mutational Concordance between Primary and Matched Recurrent Triple-Negative Breast Cancers. (PubMed, Genes (Basel))
    We found similar mutational profiles between primary and paired recurrent tumors, suggesting that genomic features may be retained during local recurrence.
    Journal • Tumor mutational burden • Discordant
    |
    TMB (Tumor Mutational Burden) • MUC16 (Mucin 16, Cell Surface Associated) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1)
    |
    MUC16 mutation • MAP3K1 mutation
    7ms
    Identification and validation of a prognostic risk-scoring model based on the level of TIM-3 expression in acute myeloid leukemia. (PubMed, Sci Rep)
    B7-H3 (CD276) and CD276 would be the potential immune targets in high-risk group. The risk score model may help in distinguishing immune and molecular characteristics, predicting patient outcomes.
    Journal • IO biomarker
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • CD276 (CD276 Molecule) • MUC16 (Mucin 16, Cell Surface Associated) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2)
    |
    TP53 mutation • NPM1 mutation • HAVCR2 expression • MUC16 mutation
    8ms
    Designing of neoepitopes based vaccine against breast cancer using integrated immuno and bioinformatics approach. (PubMed, J Biomol Struct Dyn)
    The vaccine construct was undertaken to study the immune simulations (IS), physiochemical characteristics (PP), molecular docking (MD) and simulations, and cloning in appropriate vector. Together, these parameters establish safety, stability, and a strong binding affinity against class I MHC molecules capable of inducing a complete immune response against breast cancer cells.Communicated by Ramaswamy H. Sarma.
    Journal • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MUC16 (Mucin 16, Cell Surface Associated) • ABCA1 (ATP Binding Cassette Subfamily A Member 1)
    |
    TP53 mutation • MUC16 mutation
    9ms
    Comparative analyses of the prognosis, tumor immune microenvironment, and drug treatment response between left-sided and right-sided colon cancer by integrating scRNA-seq and bulk RNA-seq data. (PubMed, Aging (Albany NY))
    We investigated the differences in prognosis, TIM, and drug treatment response between LCC and RCC patients, which may contribute to accurate colon cancer prognosis and treatment of colon cancer.
    Journal • Tumor mutational burden • IO biomarker
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • APC (APC Regulator Of WNT Signaling Pathway) • MUC16 (Mucin 16, Cell Surface Associated) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
    |
    TP53 mutation • KRAS mutation • APC mutation • MUC16 mutation
    |
    vinorelbine tartrate • mitoxantrone • Vumon (teniposide)
    9ms
    Multi-omics analysis of multiple myeloma patients with differential response to first-line treatment. (PubMed, Clin Exp Med)
    Our study delineated distinctive mutational and transcriptional landscapes in MM patients with differential response to first-line treatment. Furthermore, we constructed a 20-gene predictive model which showed promising accuracy in predicting treatment response in newly diagnosed MM patients.
    Journal
    |
    TP53 (Tumor protein P53) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • TGFB1 (Transforming Growth Factor Beta 1)
    |
    TP53 mutation • MUC16 mutation
    9ms
    Sequencing Analysis of MUC6 and MUC16 Gene Fragments in Patients with Oropharyngeal Squamous Cell Carcinoma Reveals Novel Mutations: A Preliminary Study. (PubMed, Curr Issues Mol Biol)
    The current study found novel mutations in MUC6 and MUC16 providing new insight into the genetic alternation in mucin genes among the OPSCC patients. Further studies, including larger cohorts, are recommended to recognise the pattern in which the mutations affect oropharyngeal carcinogenesis.
    Journal
    |
    MUC16 (Mucin 16, Cell Surface Associated) • MUC6 (Mucin 6)
    |
    MUC16 mutation
    9ms
    The mutational landscape of a US Midwestern breast cancer cohort reveals subtype-specific cancer drivers and prognostic markers. (PubMed, Hum Genomics)
    This extensive study has revealed tumor burden, driver genes, co-occurrence, mutual exclusivity, and survival effects of mutations on a US Midwestern breast cancer cohort, paving the way for developing personalized therapeutic strategies.
    Journal • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • CDH1 (Cadherin 1) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • AHNAK2 (AHNAK Nucleoprotein 2) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • MUC4 (Mucin 4, Cell Surface Associated) • GATA3 (GATA binding protein 3) • MUC2 (Mucin 2)
    |
    TP53 mutation • PIK3CA mutation • MUC16 mutation • GATA3 mutation
    10ms
    Development and validation of a MUC16 mutation-associated immune prognostic model for lung adenocarcinoma. (PubMed, Aging (Albany NY))
    MUC16 mutation shows potent association with TIME of LUAD. The as-constructed IPM displays high sensitivity to MUC16 mutation status and can be applied to discriminate high-risk LUAD cases from low-risk ones.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-1 (Programmed cell death 1) • LAG3 (Lymphocyte Activating 3) • MUC16 (Mucin 16, Cell Surface Associated) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2)
    |
    PD-1 expression • LAG3 expression • HAVCR2 expression • MUC16 mutation • CTLA4 expression
    10ms
    CA125 Levels in BRCA mutation carriers - a retrospective single center cohort study. (PubMed, BMC Cancer)
    Our findings suggest that hereditary mutations in BRCA1/2 affect the decline of CA125 levels with increasing age. To prove a definite effect of this mutation on the CA125 level, prospective trials need to be conducted to define new cut-off levels of CA 125 in mutation carriers and optimize ovarian cancer screening.
    Retrospective data • Journal • BRCA Biomarker
    |
    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    BRCA2 mutation • BRCA1 mutation • MUC16 mutation • BRCA mutation
    11ms
    Gene mutation analysis using next-generation sequencing and its clinical significance in patients with myeloid neoplasm: A multi-center study from China. (PubMed, Cancer Med)
    Our results demonstrate different genomic mutation patterns in the MN subgroups and highlight the clinical value of genetic variants.
    Retrospective data • Journal • Next-generation sequencing
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • MUC16 (Mucin 16, Cell Surface Associated) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • GATA2 (GATA Binding Protein 2) • KDM5A (Lysine Demethylase 5A) • BCORL1 (BCL6 Corepressor Like 1)
    |
    TP53 mutation • TET2 mutation • SRSF2 mutation • U2AF1 mutation • MUC16 mutation
    12ms
    Analysis of ATM germline mutations in solid tumors from Chinese patients. (ASCO 2023)
    This was the first report of the incidence of ATM germline mutations in Chinese solid tumors which expanded the understanding of ATM and provided a direction for clinical trial design of novel therapies. The relationship between germline mutations and cancer susceptibility will be studied in the future.
    Clinical • MSi-H Biomarker • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase) • MLH1 (MutL homolog 1) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    TP53 mutation • KRAS mutation • MSI-H/dMMR • MUC16 mutation
    1year
    Integrative analysis of the role of BOLA2B in human pan-cancer. (PubMed, Front Genet)
    BOLA2B was found to be highly expressed in malignant tumors and could be used as a biomarker of poor prognosis in multiple cancers. Further investigation into BOLA2B's role and molecular functions in cancer would provide new insights for cancer diagnosis and treatment.
    Journal • Pan tumor
    |
    TP53 (Tumor protein P53) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin)
    |
    TP53 mutation • MUC16 mutation
    1year
    Apatinib combined with camrelizumab in advanced acral melanoma patients: An open-label, single-arm phase 2 trial. (PubMed, Eur J Cancer)
    Apatinib combined with camrelizumab showed manageable safety profile and reasonable anti-tumour activity in advanced acral melanoma patients as first-line therapy.
    P2 data • Clinical Trial,Phase II • Journal • PD(L)-1 Biomarker • Metastases
    |
    MUC16 (Mucin 16, Cell Surface Associated) • ALPK2 (Alpha Kinase 2) • SCUBE1 (Signal Peptide, CUB Domain And EGF Like Domain Containing 1) • VPS13D (Vacuolar Protein Sorting 13 Homolog D)
    |
    MUC16 mutation • TTN mutation
    |
    AiRuiKa (camrelizumab) • AiTan (rivoceranib)
    1year
    m6A-related lncRNA-based immune infiltration characteristic analysis and prognostic model for colonic adenocarcinoma. (PubMed, Hereditas)
    Quantitative assessment of mA-associated lncRNAs in single tumors can enhance the understanding of tumor microenvironment profiles. The prognostic model constructed using mA-associated lncRNAs may facilitate prognosis and immunotherapy stratification of patients with COAD; finally, three drugs with potential therapeutic value were screened based on the model.
    Journal • Tumor mutational burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MUC16 (Mucin 16, Cell Surface Associated) • FAT4 (FAT Atypical Cadherin 4)
    |
    MUC16 mutation
    over1year
    Cuproptosis-related lncRNA signatures predict prognosis and immune relevance of kidney renal papillary cell carcinoma. (PubMed, Front Pharmacol)
    Finally, we performed a drug sensitivity analysis and screened 15 potential drugs that differed between high-risk and low-risk patients. In this study, we constructed and validated cuproptosis-related lncRNA signatures that can more accurately predict the prognosis of KIRP patients and provide new potential therapeutic targets and prognosis markers for KIRP patients.
    Journal • Tumor mutational burden
    |
    HER-2 (Human epidermal growth factor receptor 2) • TMB (Tumor Mutational Burden) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • USH2A (Usherin)
    |
    TMB-H • MET mutation • MUC16 mutation
    over1year
    A transient receptor potential channel-related model based on machine learning for evaluating tumor microenvironment and immunotherapeutic strategies in acute myeloid leukemia. (PubMed, Front Immunol)
    Finally, it was found that SCHIP1 may be the oncogenic gene. The results of this study will help in understanding the role of TRP and SCHIP1 in the prognosis and development of AML.
    Journal • IO biomarker • Machine learning
    |
    IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • MUC16 (Mucin 16, Cell Surface Associated) • SCHIP1 (Schwannomin Interacting Protein 1)
    |
    IDH2 mutation • DNMT3A mutation • MUC16 mutation
    over1year
    Integrating cell interaction with transcription factors to obtain a robust gene panel for prognostic prediction and therapies in cholangiocarcinoma. (PubMed, Front Genet)
    Cell communication-related genes can be used as important markers for predicting patient prognosis and immunotherapy responses. The TMRS panel is a reliable tool for prognostic prediction and chemotherapeutic decision-making in CCA.
    Journal • IO biomarker
    |
    CD8 (cluster of differentiation 8) • MUC16 (Mucin 16, Cell Surface Associated) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2) • TIGIT (T Cell Immunoreceptor With Ig And ITIM Domains 2) • IRF1 (Interferon Regulatory Factor 1) • SPI1 (Spi-1 Proto-Oncogene) • LGALS9 (Galectin 9)
    |
    MUC16 mutation • IRF1 expression
    over1year
    The characterization of tumor microenvironment infiltration and the construction of predictive index based on cuproptosis-related gene in primary lung adenocarcinoma. (PubMed, Front Oncol)
    Moreover, AZD5363 and AZD8186 were the inhibitors of AKT and PI3K, respectively, and had lower IC50 and AUC in the low-score CSS group than it in the high-score CSS group. Besides, a scoring system based on CRGs can predict the efficacy of targeted drugs and immune response. These findings may improve our understanding of CRGs in LUAD and pave a new path for the assessment of prognosis and the development of more effective targeted therapy and immunotherapy strategies.
    Journal • IO biomarker
    |
    TP53 (Tumor protein P53) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • CD4 (CD4 Molecule) • CSMD3 (CUB And Sushi Multiple Domains 3)
    |
    TP53 mutation • MUC16 mutation
    |
    Truqap (capivasertib) • AZD8186
    over1year
    Identification and validation of a novel cuproptosis-related lncRNA gene signature to predict prognosis and immune response in bladder cancer. (PubMed, Discov Oncol)
    This study revealed the effects of CRLs on BCa and further established CRLs model, which can be used in clinic for predicting prognosis, immunological response and treatment sensitivity inpatient with BCa.
    Journal • Gene Signature
    |
    TP53 (Tumor protein P53) • KMT2D (Lysine Methyltransferase 2D) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin)
    |
    TP53 mutation • MUC16 mutation
    |
    gemcitabine • paclitaxel • lapatinib • Votrient (pazopanib) • saracatinib (AZD0530)
    over1year
    MUC16 mutation is associated with tumor grade, clinical features, and prognosis in glioma patients. (PubMed, Cancer Genet)
    Conversely, MUC16 mutation were related with worse prognosis in GBM patients upon analyzing those same parameters. Therefore, MUC16 mutations may assist in glioma diagnosis and prognosis and should be further studied in this tumor type.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    MUC16 mutation • MUC16 expression
    over1year
    Molecular Classification of Genes Associated with Hypoxic Lipid Metabolism in Pancreatic Cancer. (PubMed, Biomolecules)
    On the basis of metabolic signatures, we identified the prognosis subtypes linking lipid metabolism to hypoxia. The classifications may be conducive to developing personalized treatment programs targeting metabolic profiles.
    Journal
    |
    HIF1A (Hypoxia inducible factor 1, alpha subunit) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    MUC16 mutation • HIF1A expression
    over1year
    The Immune Subtypes and Landscape of Advanced-Stage Ovarian Cancer. (PubMed, Vaccines (Basel))
    Poor prognosis was correlated with low expression of the hub genes CD2, CD3D, and CD3E, which could act not only as biomarkers for predicting prognosis, but also as potential immunotherapy targets. Our study elucidates the immunotyping and molecular characteristics of the immune microenvironment in OC, which could provide an effective immunotherapy stratification method for optimally selecting patients, and also has clinical significance for the development of new immunotherapy as well as rational combination strategies for the treatment of OC patients.
    Journal • IO biomarker
    |
    MUC16 (Mucin 16, Cell Surface Associated) • CD3D (CD3d Molecule) • CD2 (CD2 Molecule) • CA 19-9 (Cancer antigen 19-9)
    |
    MUC16 mutation
    over1year
    PAPPA2 mutation as a novel indicator stratifying beneficiaries of immune checkpoint inhibitors in skin cutaneous melanoma and non-small cell lung cancer. (PubMed, Cell Prolif)
    Our findings indicated that PAPPA2 mutation could serve as a novel indicator to stratify beneficiaries from ICIs therapy in NSCLC and SKCM, warranting further prospective studies.
    Journal • Checkpoint inhibition • Tumor Mutational Burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • LRP1B (LDL Receptor Related Protein 1B) • MUC16 (Mucin 16, Cell Surface Associated) • CD4 (CD4 Molecule) • PAPPA2 (Pappalysin 2)
    |
    MUC16 mutation • PAPPA2 mutation
    over1year
    Bioinformatics Analysis Based on TCGA: MUC16 Mutation Correlates with Clinical Outcome in Gastric Cancer. (PubMed, Dis Markers)
    GO and KEGG assays indicated DEGs as enriched in pancreatic secretion, neuroactive ligand-receptor interaction, protein digestion and absorption, fat digestion and absorption, and glycerolipid metabolism. Overall, our data revealed that the MUC16 mutation in GC may affect the development of patients by altering several genes and pathways, indicating the importance of MUC16 mutation in the treatments of GC on an individual basis.
    Clinical data • Journal
    |
    MUC16 (Mucin 16, Cell Surface Associated)
    |
    MUC16 mutation
    over1year
    Influencing Factor Analysis of Targeted Therapy on Patients With Epidermal Growth Factor Receptor Mutant Non-Small Cell Lung Cancer (ISPOR-EU 2022)
    The therapeutic effect of EGFR-TKI in patients with advanced EGFRmutant NSCLC is positive. EGFR19-mutant NSCLC patients with low-level CA125 receivingEGFR-TKIinfirst linetreatmentcan obtain better PFS.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    EGFR mutation • MUC16 mutation
    over1year
    Prognostic Value of MUC16 Mutation and Its Correlation with Immunity in Hepatocellular Carcinoma Patients. (PubMed, Evid Based Complement Alternat Med)
    Furthermore, gene set enrichment analysis (GSEA) indicated that the MUC16 mutation was significantly involved in HCC cell metabolism. MUC16 mutation seems to be a valuable potential biomarker for HCC development and its overall survival.
    Journal • Tumor Mutational Burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • LRP1B (LDL Receptor Related Protein 1B) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • FAT3 (FAT Atypical Cadherin 3) • SPTA1 (Spectrin Alpha) • USH2A (Usherin) • CSMD1 (CUB And Sushi Multiple Domains 1) • CSMD3 (CUB And Sushi Multiple Domains 3) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • PCLO (Piccolo Presynaptic Cytomatrix Protein)
    |
    TP53 mutation • MUC16 mutation
    almost2years
    A Comprehensive Understanding of the Genomic Bone Tumor Landscape: A Multicenter Prospective Study. (PubMed, Front Oncol)
    Meanwhile, we found that the mutations of MUC16 may be a potential biomarker for the diagnosis of mesenchymal chondrosarcomas. Our results indicated that RNA sequencing effectively complements DNA sequencing and increased the detection rate of gene fusions, supporting that NGS technology can effectively assist the diagnosis of bone tumors.
    Journal
    |
    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CCNE1 (Cyclin E1) • MUC16 (Mucin 16, Cell Surface Associated) • NCOR1 (Nuclear Receptor Corepressor 1) • CCND3 (Cyclin D3) • MAP2K4 (Mitogen-Activated Protein Kinase Kinase 4)
    |
    TP53 mutation • CDKN2A deletion • CDKN2A mutation • MUC16 mutation
    almost2years
    Gene Mutations Related to Glucocorticoid Resistance in Pediatric Acute Lymphoblastic Leukemia. (PubMed, Front Pediatr)
    Upon statistical analysis, TTN and NOTCH1 mutations were found to be associated with prednisone resistance...Our study is the first to demonstrate the association between TTN mutation and glucocorticoid resistance in ALL. Our findings could guide strategies for overcoming drug resistance and aid in the development of drug targets.
    Journal
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NOTCH1 (Notch 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MUC16 (Mucin 16, Cell Surface Associated) • PHF6 (PHD Finger Protein 6)
    |
    TP53 mutation • NOTCH1 mutation • MUC16 mutation • PHF6 mutation • TTN mutation
    |
    prednisone
    almost2years
    Comprehensive genomic analysis of primary malignant melanoma of the esophagus reveals similar genetic patterns compared with epithelium-associated melanomas. (PubMed, Mod Pathol)
    Comparing the mutational and copy number landscapes between PMME and other subtypes of melanoma revealed that PMME has a similar genomic pattern and biological characteristics to SKCM. In summary, we comprehensively defined the key genomic aberrations and mutational processes driving PMME and suggested for the first time that PMME may share similar genomic patterns with SKCM; therefore, patients with rare melanomas, such as PMME, may benefit from the current treatment used for common cutaneous melanoma.
    Journal
    |
    BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • RANBP2 (RAN Binding Protein 2) • PTPRT (Protein tyrosine phosphatase receptor type T) • MUC4 (Mucin 4, Cell Surface Associated)
    |
    TP53 mutation • BRAF mutation • MUC16 mutation
    almost2years
    Prognostic Value of SPOCD1 in Esophageal Squamous Cell Carcinoma: A Comprehensive Study Based on Bioinformatics and Validation. (PubMed, Front Genet)
    The current data support the oncogenic role of SPOCD1 in the occurrence and development of ESCC. Most importantly, SPOCD1 might be an independent prognostic factor for ESCC patients.
    Journal
    |
    TP53 (Tumor protein P53) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin)
    |
    TP53 mutation • MUC16 mutation
    almost2years
    ROLE OF CTDNA FOR PREDICTING TUMOR RESPONSE IN BREAST CANCER PATIENTS AFTER NEOADJUVANT CHEMOTHERAPY (GBCC 2022)
    ctDNA is a sensitive marker for monitoring tumor response to NAC. ctDNA detection achieved a 75% detection rate at baseline. During NAC, ctDNA levels decreased quickly among pCR patients.
    Clinical • BRCA Biomarker • Circulating tumor DNA
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • NF1 (Neurofibromin 1) • KDR (Kinase insert domain receptor) • CDH1 (Cadherin 1) • MUC16 (Mucin 16, Cell Surface Associated) • TSC2 (TSC complex subunit 2) • FAT1 (FAT atypical cadherin 1)
    |
    TP53 mutation • PIK3CA mutation • MUC16 mutation
    almost2years
    Defining a prognostic risk score in ovarian cancer patients by integrated analysis of serum mesothelin, HE4, CA125 and surgical outcome. (ASCO 2022)
    This is the first study, proposing an integrated prognostic risk score for ovarian cancer patients, which could easily be implemented into routine diagnostics and may guide personalized treatment decisions. Patients at “higher risk”, as identified by this model, could potentially benefit from an intensified therapy regime, whereas patients at “lower risk” might be suitable for treatment de-escalation.
    Clinical • BRCA Biomarker
    |
    MSLN (Mesothelin) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    MUC16 mutation • BRCA mutation
    2years
    Identification and analysis of a prognostic ferroptosis and iron-metabolism signature for esophageal squamous cell carcinoma. (PubMed, J Cancer)
    We discovered that AZD7762, Sunitinib, Cytarabine, Docetaxel, Vinblastine, and Elesclomol exhibited lower IC50 in the low-score group. Six iron metabolism and ferroptosis-related genes were associated with the prognosis, CNV, TMB, and immune cell infiltration of ESCC. Some potential anti-cancer drugs and compounds may be helpful for OS.
    Journal
    |
    TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • MUC16 (Mucin 16, Cell Surface Associated) • SLC3A2 (Solute Carrier Family 3 Member 2)
    |
    TP53 mutation • MUC16 mutation
    |
    docetaxel • Sutent (sunitinib) • cytarabine • elesclomol (STA-4783) • vinblastine
    2years
    High frequency of PDGFRA and MUC family gene mutations in diffuse hemispheric glioma, H3 G34-mutant: a glimmer of hope? (PubMed, J Transl Med)
    Our results demonstrate that G34-DHG is a new high-grade glioma with high frequency of PDGFRA and MUC gene family mutations. PDGFRA may serve as an indicator of poor prognosis and an effective therapeutic target. Moreover, MUC16 tends to be a favorable prognostic factor and indicates high immune infiltration in certain patients, and these findings may provide a new direction for targeted therapy and immunotherapy of patients with G34-DHGs.
    Journal • IO biomarker
    |
    PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    PDGFRA mutation • MUC16 mutation
    2years
    Integrated Analysis of Multi-Omics Alteration, Immune Profile, and Pharmacological Landscape of Pyroptosis-Derived lncRNA Pairs in Gastric Cancer. (PubMed, Front Cell Dev Biol)
    Additionally, the high-risk group possessed lower immune cell infiltration abundance and might be resistant to a few chemotherapeutic drugs (including cisplatin, paclitaxel, and gemcitabine). PDLs were closely implicated in the biological process and prognosis of GC, and our PLPPS model could serve as a promising tool to advance prognostic management and personalized treatment of GC patients.
    Journal • Tumor Mutational Burden
    |
    TMB (Tumor Mutational Burden) • LRP1B (LDL Receptor Related Protein 1B) • MUC16 (Mucin 16, Cell Surface Associated)
    |
    TMB-L • MUC16 mutation
    |
    cisplatin • gemcitabine • paclitaxel