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    BIOMARKER:

    L1CAM mutation

    i
    Other names: L1CAM, L1 Cell Adhesion Molecule, Neural Cell Adhesion Molecule L1, Antigen Identified By Monoclonal Antibody R1, N-CAM-L1, NCAM-L1, CAML1, CD171, MIC5, CD171 Antigen, N-CAML1, HSAS1, L1CAM, HSAS, MASA, SPG1, S10
    Entrez ID:
    3897
    2years
    Flow cytometry-based quantification of genome editing efficiency in human cell lines using the L1CAM gene. (PubMed, PLoS One)
    In addition, the L1CAM-based assay allowed us to measure the efficiency of targeted knock-in (correction of L1CAM mutations) accomplished through different strategies, including a Cas9 nuclease-mediated method, tandem paired nicking, and prime editing. Our L1CAM-based assay using FCM enables rapid and sensitive quantification of genome editing efficiencies and will thereby help researchers improve genome editing technologies.
    Preclinical • Journal
    |
    L1CAM (L1 cell adhesion molecule)
    |
    L1CAM mutation
    over2years
    Clinicopathological characteristics of endometrial carcinomas according to DNA mismatch repair protein status. (PubMed, Heliyon)
    The precise identification of MMRd status, present in a substantial proportion of endometrial cancer cases, is a challenge to be overcome for proper patient management. MMRd status serves as a marker for Lynch syndrome, and a significant number of these tumors are high risk and candidate to immunotherapy.
    Journal • Mismatch repair • IO biomarker
    |
    TP53 (Tumor protein P53) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • L1CAM (L1 cell adhesion molecule)
    |
    TP53 mutation • PMS2 mutation • TP53 expression • L1CAM mutation
    4years
    Clinical Utility of Endometrial Carcinoma Genomic Classification Using TruSight Tumor 500 Next Generation Sequencing (USCAP 2022)
    Findings from this Interim analysis supports the clinical utility of CGP using TSO500 for complete molecular classification of EC and highlights complexity in EC genomics. In addition to prognostication, CGP offers wider avenues for personalized therapy in the context of EC heterogeneity.
    Clinical • Tumor mutational burden • MSi-H Biomarker • BRCA Biomarker • Next-generation sequencing
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • POLE (DNA Polymerase Epsilon) • PALB2 (Partner and localizer of BRCA2) • POLD1 (DNA Polymerase Delta 1) • L1CAM (L1 cell adhesion molecule)
    |
    TP53 mutation • TMB-H • MSI-H/dMMR • TP53 wild-type • PALB2 mutation • L1CAM mutation
    |
    TruSight Oncology 500 Assay
    4years
    Molecular Profiling of Endometrial Cancer: An Exploratory Study in Aotearoa, New Zealand. (PubMed, Cancers (Basel))
    Surrogate markers for POLE mutations should be investigated. The validation of POLE variants and CTNNB1 mutations as part of an Aotearoa-based molecular panel is warranted.
    Journal
    |
    TP53 (Tumor protein P53) • POLE (DNA Polymerase Epsilon) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • L1CAM (L1 cell adhesion molecule)
    |
    TP53 mutation • MSI-H/dMMR • POLE mutation • CTNNB1 mutation • L1CAM mutation
    4years
    [VIRTUAL] Female Sex and Increased Immune Marker mRNA Gene Expression are Associated With Decreased Overall Survival in Patients With HPV-Negative Head and Neck Cancer (ASTRO 2021)
    Females with HPV-negative HNSCC had increased mRNA gene expression of specific immune markers and worse outcomes, even after controlling for relevant factors. Integration of TP53 mutations and immune marker expression may help improve health disparities research in HNSCC. Validation of our findings is ongoing using institutional data.
    Clinical • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PD-1 (Programmed cell death 1) • LAG3 (Lymphocyte Activating 3) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2) • TIGIT (T Cell Immunoreceptor With Ig And ITIM Domains 2) • IDO1 (Indoleamine 2,3-dioxygenase 1) • SAA1 (Serum Amyloid A1) • CXCL11 (C-X-C Motif Chemokine Ligand 11) • L1CAM (L1 cell adhesion molecule)
    |
    PD-L1 expression • TP53 mutation • PD-1 expression • LAG3 expression • IDO1 expression • L1CAM mutation
    4years
    Female Sex and Increased Immune Marker mRNA Gene Expression are Associated With Decreased Overall Survival in Patients With HPV-Negative Head and Neck Cancer. (PubMed, Int J Radiat Oncol Biol Phys)
    Females with HPV-negative HNSCC had increased mRNA gene expression of specific immune markers and worse outcomes, even after controlling for relevant factors. Integration of TP53 mutations and immune marker expression may help improve health disparities research in HNSCC. Validation of our findings is ongoing using institutional data.
    Clinical • Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PD-1 (Programmed cell death 1) • LAG3 (Lymphocyte Activating 3) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • HAVCR2 (Hepatitis A Virus Cellular Receptor 2) • TIGIT (T Cell Immunoreceptor With Ig And ITIM Domains 2) • IDO1 (Indoleamine 2,3-dioxygenase 1) • SAA1 (Serum Amyloid A1) • CXCL11 (C-X-C Motif Chemokine Ligand 11) • L1CAM (L1 cell adhesion molecule)
    |
    PD-L1 expression • TP53 mutation • PD-1 expression • LAG3 expression • IDO1 expression • L1CAM mutation