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    GENE:

    SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)

    i
    Other names: SYNE1, Spectrin Repeat Containing Nuclear Envelope Protein 1, Myocyte Nuclear Envelope Protein 1, Nesprin-1, Enaptin, MYNE1, Spectrin Repeat Containing, Nuclear Envelope 1, Synaptic Nuclear Envelope Protein 1, KASH Domain-Containing Protein 1, DJ45H2.2, KIAA0796, C6orf98, ARCA1, KASH1, Nesp1, SCAR8, CPG2, 8B, Nuclear Envelope Spectrin Repeat Protein 1, Nuclear Envelope Spectrin Repeat-1, Chromosome 6 Open Reading Frame 98, Synaptic Nuclei Expressed Gene 1, CPG2 Full Length, Nesprin 1, KIAA1262, KIAA1756, SYNE-1B, Myne-1, Syne-1, EDMD4, AMCM
    14d
    Non-small cell lung carcinomas with diffuse co-expression of TTF-1 and p40: Clinical, pathological and molecular characterization of a tumor subtype. (PubMed, Virchows Arch)
    Notably, SYNE1, TMEM132C, and TNN were identified as characteristic mutations, defining a distinct mutational profile that sets this rare subtype apart from both SCC and ADC. Our findings highlight that NSCLC with diffuse co-expression of TTF-1 and p40 probably constitutes a distinct clinicopathological subtype with rapid clinical progression and poor prognosis, defined by unique morphological characteristics, a biphenotypic immunoprofile, and specific molecular alterations.
    Journal
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    TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • TNN (Tenascin N)
    28d
    Conversion surgery following nivolumab plus SOX therapy for unresectable advanced esophagogastric junction cancer: two case reports with perioperative genomic profiling. (PubMed, Int Cancer Conf J)
    Analyzing treatment-resistant tumor characteristics pathologically and genomically could support the development of personalized therapies. The online version contains supplementary material available at 10.1007/s13691-025-00838-y.
    Journal • PD(L)-1 Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
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    TP53 mutation • HER-2 negative
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    Opdivo (nivolumab)
    1m
    Glycolysis reprogramming predicts poor prognosis and drives therapy resistance via CLN6 in lethal prostate cancer. (PubMed, Acta Biochim Biophys Sin (Shanghai))
    In vitro, enzalutamide-resistant prostate cancer cell lines exhibit heightened glycolysis, and 2-DG inhibition reverses this effect, restoring drug sensitivity. CLN6 knockdown reduces glycolytic activity and cell proliferation. The GLY score offers robust prognostic value, and CLN6 represents a promising therapeutic target for precision medicine in lethal prostate cancer.
    Journal
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    SDHC (Succinate Dehydrogenase Complex Subunit C) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • KIF20A (Kinesin Family Member 20A)
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    Xtandi (enzalutamide)
    2ms
    Stool- and Blood-Associated Colorectal Cancer Biomarkers: A Systematic Review. (PubMed, Cancers (Basel))
    DNA methylation and microRNA biomarkers hold strong promises for non-invasive CRC screening. Multi-marker panels demonstrate superior diagnostic accuracy and may provide a cost-effective, scalable approach for early CRC detection in resource-limited settings.
    Review • Journal
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    MIR21 (MicroRNA 21) • MMP2 (Matrix metallopeptidase 2) • MMP9 (Matrix metallopeptidase 9) • BCAT1 (Branched Chain Amino Acid Transaminase 1 ) • MIR182 (MicroRNA 182) • MIR223 (MicroRNA 223) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • WIF1 (WNT Inhibitory Factor 1) • SDC2 (Syndecan 2) • SEPTIN9 (Septin 9) • SHOX2 (SHOX Homeobox 2)
    2ms
    Proteins Lamin A and SUN1 are exclusively decreased in nuclear grade 4 clear cell renal cell carcinoma. (PubMed, Oncol Lett)
    In conclusion, in the WHO/ISUP grading system, G1, G2 and G3 rely solely on nucleolar size as an indicator. However, in G4, both nuclear and cell morphology may be considered as indicators, since changes in nuclear envelope-associated proteins were only detected in this grade.
    Journal
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    SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • LMNB2 (Lamin B2)
    2ms
    High penetrance rare variants underlying familial lung cancer risk: Insights from genetic epidemiology of lung cancer consortium. (PubMed, J Thorac Oncol)
    Our findings underscore the significant role of rare, high-penetrance genetic variants in FLC susceptibility, particularly in mucin glycosylation and DNA repair genes. These findings offer promising targets for early detection and personalized therapies.
    Journal • BRCA Biomarker
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    BRCA2 (Breast cancer 2, early onset) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • MLH1 (MutL homolog 1) • JAK1 (Janus Kinase 1) • PIM1 (Pim-1 Proto-Oncogene) • MUC4 (Mucin 4, Cell Surface Associated) • EBF1 (EBF Transcription Factor 1) • COL6A3 (Collagen Type VI Alpha 3 Chain) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
    4ms
    Investigating Genomic Differences by Ethnicity in Breast, Colorectal and Prostate Cancers: Secondary Data Analysis of the Genomic Data Commons (GDC) Database. (PubMed, Cancer Med)
    Significant disparities exist in cancer incidence and survival rates across White, Black and Asian populations. These findings demonstrate the importance of targeted approaches in cancer prevention, diagnosis and treatment to address disparities and the need for equitable healthcare. Further research is needed to identify mechanisms driving such disparities and to develop effective strategies to improve cancer outcomes across diverse ethnic populations.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • SPOP (Speckle Type BTB/POZ Protein) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
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    TP53 mutation • KRAS mutation • PIK3CA mutation
    5ms
    Genomic characterization of patients with colorectal cancer. (PubMed, Hered Cancer Clin Pract)
    These findings highlight the utility of NGS in identifying germline variants linked to hereditary CRC syndromes and emphasize the need for functional studies to assess the pathogenicity of VUS.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • NF1 (Neurofibromin 1) • FGFR (Fibroblast Growth Factor Receptor) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • PMS2 (PMS1 protein homolog 2) • CHEK2 (Checkpoint kinase 2) • RAD51D (RAD51 paralog D) • MUTYH (MutY homolog) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • ABRAXAS1 (Abraxas 1 BRCA1 A Complex Subunit 2) • FANCC (FA Complementation Group C) • XRCC3 (X-Ray Repair Cross Complementing 3)
    5ms
    Co-mutation of PCLO and SYNE1 defines an immune-activated endometrial cancer subtype with favorable prognosis. (PubMed, J Obstet Gynaecol Res)
    PCLO and SYNE1 co-mutation identifies a biologically distinct EC subset with heightened immunogenicity and superior prognosis. The co-mutation may serve as a robust, integrative biomarker for immune responsiveness and risk stratification in EC.
    Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • CD8 (cluster of differentiation 8) • CD4 (CD4 Molecule) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • PCLO (Piccolo Presynaptic Cytomatrix Protein)
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    TMB-H • MSI-H/dMMR • POLE mutation
    5ms
    Identification of Tumor Antigens and Immune Subtypes in Hepatocellular Carcinoma From a Multiomics Perspective. (PubMed, Cancer Rep (Hoboken))
    In summary, we found two potential tumor antigens, ZNF831 and SYNE1, and identified four immune subtypes of HCC with distinct molecular features. Our study provides novel insights into the development of cancer vaccine and precision medicine of immune oncology in HCC, which may benefit clinical practice in the future.
    Journal • IO biomarker
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    SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
    10ms
    Formation of metal-microplastic complexes in lung adenocarcinoma is associated with increased risk of cancer progression. (PubMed, J Hazard Mater)
    Our findings revealed that m-MPs have the capacity for promoting metal ion deposition and oncogenic signaling, thereby involved in LUAD progression. This work also provides evidence using human tissue to demonstrate the association of m-MPs with lung cancer outcomes and advocate the development and application of therapeutic strategies targeting m-MPs.
    Journal
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    SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)
    10ms
    Utilizing multi-omics analysis, a new signature has been identified and validated for predicting prognosis and response to immunotherapy in lung squamous cell carcinoma, which is based on tumor mutation burden. (PubMed, Discov Oncol)
    In conclusion, the GSEA examination demonstrated that the TMB-associated signature stimulated immune system-related signaling pathways. To sum up, the TMB-associated signature could be marker to anticipate the immune reaction in individuals with LUSC.
    Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    TMB (Tumor Mutational Burden) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1)