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    GENE:

    XIRP2 (Xin Actin Binding Repeat Containing 2)

    i
    Other names: XIRP2, Xin Actin Binding Repeat Containing 2, CMYA3, Xin Actin-Binding Repeat-Containing Protein 2, Cardiomyopathy-Associated Protein 3, Cardiomyopathy Associated 3, Myomaxin, Beta-Xin, Xeplin, Xin Repeat Protein 2
    5ms
    Whole-exome sequencing reveals the mutational landscape of head and neck lymphoepithelioma-like carcinoma. (PubMed, Oral Oncol)
    In addition, interrogation of the Drug-Gene Interaction Database highlighted putative therapeutic targets such as CDK13, MUC16, and MUC17. While preliminary, these findings establish the first comprehensive mutational blueprint of HNLEC, providing novel insights into its pathogenesis, potential prognostic determinants, and therapeutic vulnerabilities, and laying a foundation for future translational and clinical research.
    Journal
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    MUC16 (Mucin 16, Cell Surface Associated) • MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) • XIRP2 (Xin Actin Binding Repeat Containing 2) • CDK13 (Cyclin Dependent Kinase 13) • EPPK1 (Epiplakin 1) • MUC17 (Mucin 17)
    6ms
    Signature of leukemia stem cell death pattern predicts prognosis and therapeutic response of acute myeloid leukemia patients. (PubMed, Sci Rep)
    Additionally, predictions regarding FDA-approved drugs indicated that the high LSCD score group is less sensitive to Venetoclax but more sensitive to Crenolanib, Tandutinib, or Midostaurin. In summary, we developed an LSCD model that shows the predictive potential of clinical prognosis and drug sensitivity. This model provides meaningful insights for personalized treatment of AML patients.
    Journal
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    IL2RA (Interleukin 2 receptor, alpha) • CDK6 (Cyclin-dependent kinase 6) • HOXA9 (Homeobox A9) • XIRP2 (Xin Actin Binding Repeat Containing 2) • S100A4 (S100 calcium binding protein A4)
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    Venclexta (venetoclax) • midostaurin • crenolanib (ARO-002) • tandutinib (MLN518)
    over1year
    Identification of Clinical Value and Biological Effects of XIRP2 Mutation in Hepatocellular Carcinoma. (PubMed, Biology (Basel))
    The XIRP2 mutation was linked to alterations in the sensitivity of fludarabine, oxaliplatin, WEHI-539, and LCL-161. Mechanically, the inhibition of XIRP2 resulted in a significant increase in sensitivity to oxaliplatin through an elevation in zinc ions and a calcium ion overload. In conclusion, the XIRP2 mutation holds potential as a biomarker for predicting the prognosis and drug sensitivity of HCC and serves as a therapeutic target to enhance the efficacy of oxaliplatin.
    Journal
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    XIRP2 (Xin Actin Binding Repeat Containing 2)
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    oxaliplatin • fludarabine IV • LCL161
    almost2years
    Somatic mutations that affect early genetic progression and immune microenvironment in gastric carcinoma. (PubMed, Pathol Res Pract)
    HRD showed a positive correlation with tumor mutational burden, which might serve as indirect evidence supporting the potential of HRD as a biomarker for GC. These findings highlighted GC's high heterogeneity and complexity and provided valuable insights into the somatic mutations that affect early genetic progression and immune microenvironment.
    Journal • Tumor mutational burden • MSi-H Biomarker • IO biomarker
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • HRD (Homologous Recombination Deficiency) • ARID1A (AT-rich interaction domain 1A) • LRP1B (LDL Receptor Related Protein 1B) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • KMT2C (Lysine Methyltransferase 2C) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • FAT4 (FAT Atypical Cadherin 4) • MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) • CSMD3 (CUB And Sushi Multiple Domains 3) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • XIRP2 (Xin Actin Binding Repeat Containing 2) • ZFHX4 (Zinc Finger Homeobox 4)
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    MSI-H/dMMR • HRD • ARID1A mutation • RNF43 mutation • SMAD4 mutation
    2years
    Effects of Purine Metabolism-Related LINC01671 on Tumor Heterogeneity in Kidney Renal Clear Cell Carcinoma. (PubMed, Front Biosci (Landmark Ed))
    LINC01671 may be a novel prognostic marker with important therapeutic value for KIRC.
    Journal
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    TP53 (Tumor protein P53) • PBRM1 (Polybromo 1) • CHD4 (Chromodomain Helicase DNA Binding Protein 4) • XIRP2 (Xin Actin Binding Repeat Containing 2) • ABCC6 (ATP Binding Cassette Subfamily C Member 6) • PKHD1 (PKHD1 Ciliary IPT Domain Containing Fibrocystin/Polyductin)
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    TP53 mutation • PBRM1 mutation • VHL mutation
    2years
    Exploratory analysis of biomarkers of response to durvalumab in advanced HER2-negative oesophago-gastric adenocarcinoma within a phase 2 clinical trial. (ASCO-GI 2024)
    Immune dN/dS emerges as a promising tool to decode tumour evolutionary mechanisms, providing profound insights into the dynamics of tumour evolution in advanced HER2 negative oesophago-gastric cancer patients receiving durvalumab immunotherapy. This pilot study underscores the potential of this novel immunogenomic approach in improving patient stratification and tailoring therapeutic strategies in cancer immunotherapy. 1.
    Clinical • P2 data • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • XIRP2 (Xin Actin Binding Repeat Containing 2)
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    PD-L1 expression • HER-2 negative
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    Imfinzi (durvalumab)
    almost3years
    Multiparametric characterization of early-stage SCLC human tumors reveals novel patient subgroups based on specific molecular to immune landscape associations (AACR 2023)
    Here we show a gene signature that can subclassify early-stage SCLC patients according to their clinical, molecular and immune features, and provides prognostic value independently of the NAPI classification. Since immunogenicity of the tumor impacts response to immunotherapy, we speculate that this gene signature might predict therapy response and therefore contribute to tailored treatment of SCLC.
    Clinical • IO biomarker
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    TP53 (Tumor protein P53) • CD20 (Membrane Spanning 4-Domains A1) • RB1 (RB Transcriptional Corepressor 1) • CD8 (cluster of differentiation 8) • TOP2A (DNA topoisomerase 2-alpha) • TIGIT (T Cell Immunoreceptor With Ig And ITIM Domains 2) • IDO1 (Indoleamine 2,3-dioxygenase 1) • CD4 (CD4 Molecule) • CD79A (CD79a Molecule) • CD3D (CD3d Molecule) • TWIST1 (Twist Family BHLH Transcription Factor 1) • CD2 (CD2 Molecule) • MS4A1 (Membrane Spanning 4-Domains A1) • XIRP2 (Xin Actin Binding Repeat Containing 2) • ASCL1 (Achaete-Scute Family BHLH Transcription Factor 1)
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    TP53 mutation • RB1 mutation • IDO1 expression • RB1 mutation + TP53 mutation
    almost3years
    Predicting DNA methylation in cervical cancer using somatic mutations in a classified mixed model prediction (AACR 2023)
    SNPs in these genes linked to cervical cancer include rs121913396, rs121913403 (CTNNB1), rs867262025, and rs121913279 (PIK3CA).In summary, we developed a mixed-effects model for accurately predicting DNAm levels in cervical cancer, using genes with significant somatic mutations (SNVs and INDELs). These results also align with growing evidence suggesting that genetic variation plays a role in DNAm.
    Epigenetic controller
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • XIRP2 (Xin Actin Binding Repeat Containing 2)
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    PIK3CA mutation
    over3years
    Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants. (PubMed, PLoS One)
    We were able to identify novel coding variants present in more than one patient in nine biologically relevant genes for NBL, including TMEM14B, TTN, FLG, RHBG, SHROOM3, UTRN, HLA-DRB1, OR6C68, and XIRP2. Our results may provide novel information about genes and signaling pathways relevant for the pathogenesis and clinical course in high-risk NBL.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FLT3 (Fms-related tyrosine kinase 3) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • XIRP2 (Xin Actin Binding Repeat Containing 2) • PHOX2B (Paired Like Homeobox 2B)
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    TP53 mutation