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    GENE:

    PMS2 (PMS1 protein homolog 2)

    i
    Other names: PMS2, PMS1 Homolog 2, Mismatch Repair System Component, PMS1 Homolog 2, Mismatch Repair Protein, Mismatch Repair Endonuclease PMS2, DNA Mismatch Repair Protein PMS2, PMS1 Protein Homolog 2, PMSL2, PMS2 Postmeiotic Segregation Increased 2, Postmeiotic Segregation Increased 2 Nirs Variant 6, PMS2 Postmeiotic Segregation Increased 2, HNPCC4, PMS2CL, MLH4
    20h
    No Evidence of Microsatellite Instability in Head and Neck Squamous Cell Carcinoma of Non-Smokers and Non-Drinkers. (PubMed, J Oral Pathol Med)
    This study shows no single case with MSI in the NSND subgroup of HNSCC. Although a deficient DNA mismatch repair system is a predictive biomarker for response to immune checkpoint inhibitors, we found no evidence to support routine analysis of MSI in HNSCC, also not in the subgroup of NSND.
    Journal • Microsatellite instability • IO biomarker
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    1d
    Mismatch repair protein imbalance in head and neck squamous cell carcinoma: associations with clinical features and survival. (PubMed, Ther Adv Med Oncol)
    MMR protein expression in HNSCC varies by HPV status and demographic factors and is linked to differential immune infiltration. These findings suggest that MMR protein imbalance may influence tumor immunogenicity and could potentially serve as a biomarker to inform therapeutic strategies in the immunotherapy era, especially in p16-negative tumors.
    Journal • Mismatch repair • IO biomarker
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    CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CD4 (CD4 Molecule)
    3d
    Germline variants in ATM, BRCA2, other cancer predisposition and novel candidate genes are implicated in glioma risk in adult glioma patients with a familial or personal history of tumors. (PubMed, Acta Neuropathol)
    In 11% of patients, the identified CPG GVs potentially sensitized to targeted therapies, such as PARP, immune checkpoint, or EGFR inhibitors. In conclusion, our study identifies CPGs and novel genes relevant in germline testing of glioma patients with a familial/personal tumor history, possibly resulting in targeted treatment options.
    Journal • BRCA Biomarker • PARP Biomarker
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    BRCA2 (Breast cancer 2, early onset) • PMS2 (PMS1 protein homolog 2)
    4d
    An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes. (PubMed, Proc Natl Acad Sci U S A)
    Importantly, coselection ODMS delivered 100% concordant results in a clinical diagnostic laboratory. With >93% sensitivity and >92% specificity, coselection ODMS provides a highly reliable functional assay in the diagnosis of enigmatic LS variants, enabling risk assessment and personalized surveillance or treatment for affected families.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    5d
    Comparison and analysis of the immune landscape at the tumour invasion front in patients with pMMR/MSI-H and pMMR/MSS colorectal cancer. (PubMed, Int J Colorectal Dis)
    There are significant differences in the infiltration and distribution of immune cells at the tumour invasion front between pMMR/MSI-H and pMMR/MSS CRC. The higher infiltration of CD8⁺ T cells and CD56 bright⁺ cells at the tumour invasion front in patients with dMMR CRC may partly explain their better response to immune therapy. However, these findings require validation in larger cohorts.
    Clinical • Journal • MSi-H Biomarker • MSI-H • pMMR
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    MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CD4 (CD4 Molecule) • NCAM1 (Neural cell adhesion molecule 1)
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    MSI-H/dMMR
    6d
    Clinicopathological and molecular mechanisms of CLDN18.2 in gastric cancer aggressiveness: a high-risk population study with multi-omics profiling. (PubMed, J Pathol Transl Med)
    CLDN18.2 overexpression is associated with poor prognosis in GC patients. Transcriptomic and proteomic analyses demonstrate that CLDN18.2 promotes tumor progression and metastasis, underscoring its potential as an independent prognostic factor in regions with a high incidence of GC.
    Journal • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • MSI (Microsatellite instability) • CLDN18 (Claudin 18) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    CLDN18.2 positive
    10d
    Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience. (PubMed, Cancers (Basel))
    Early access to genomic analyses, routine germline assessment, and broad gene panels would help in identifying possible targeted drugs with sufficient evidence of activity beneficial to each patient. In the clinical management of advanced sarcoma patients, when analyzing cost-effectiveness and sustainability, the role of the Molecular Tumor Board in the governance of the complexity introduced by mutational oncology should be considered.
    Journal
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    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PMS2 (PMS1 protein homolog 2) • MUC16 (Mucin 16, Cell Surface Associated) • NOTCH4 (Notch 4) • RHOA (Ras homolog family member A) • BARD1 (BRCA1 Associated RING Domain 1) • CCND3 (Cyclin D3) • DDR2 (Discoidin domain receptor 2) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
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    Archer® VariantPlex® Solid Tumor Kit
    14d
    Molecular-Like Classification in Gastric Adenocarcinomas: Correlation with Clinicopathological Features and Prognosis. (PubMed, Int J Surg Pathol)
    Molecular-like classification holds promise as a low-cost, easy-to-implement classification that can be used predictively in prognosis. However, molecular-based studies with large series are still needed to determine whether it is a pretest or alternative of molecular classifications.
    Journal
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1)
    17d
    New Insights from the Expression of the Mismatch Repair System in Pituitary Neuroendocrine Tumors. (PubMed, Endocr Pathol)
    In conclusion, MMR deficiency was rarely observed (2.2%) but reduced MMR expression could be found, especially in functioning corticotroph and invasive lactotroph tumors. The molecular mechanisms and prognostic significance of such findings would deserve further investigation.
    Journal • Mismatch repair
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    18d
    Disruption of protein-protein interaction hotspots in the C-terminal domain of MLH1 confers mismatch repair deficiency. (PubMed, NAR Cancer)
    We further reveal that the peptide is able to inhibit the latent endonuclease activity of recombinant MutLα, possibly via competing with a putative MIM within PMS2. Our findings define key PPI interfaces within the MLH1(CTD) that govern MMR activity and may offer novel therapeutic opportunities to exploit MMRd in cancer and HD.
    Journal • Mismatch repair • Tumor mutational burden • IO biomarker
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    TMB (Tumor Mutational Burden) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • MSH3 (MutS Homolog 3)
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    TMB-H
    18d
    Integrative proteomics reveals mitochondrial and immune signatures of MLH1 exon 13 deletion in Lynch syndrome-associated colorectal cancer. (PubMed, Front Mol Biosci)
    This study provides the first proteomic evidence linking MLH1-EX13 Del to suppressed mitochondrial metabolism and immune activation. These findings highlight metabolic vulnerability and an inflammatory microenvironment as potential therapeutic targets, offering new insights into Lynch syndrome-associated colorectal cancer.
    Journal • MSi-H Biomarker
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    MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • S100A8 (S100 Calcium Binding Protein A8)
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    MSI-H/dMMR
    20d
    Diagnostic Challenges and Clinical Implications of Microsatellite Instability/Mismatch Repair Deficiency in Solid Tumors. (PubMed, Cancer Res Treat)
    However, the oncogenic processes and immune microenvironment are not identical across the organs of origin, between patients, and even within the same patient, which should be considered in future studies. This review provides an overview of the practical aspects of dMMR/MSI testing, along with the molecular mechanisms and immune microenvironments associated with dMMR/MSI solid tumors.
    Journal • Mismatch repair • Tumor mutational burden • Microsatellite instability • IO Companion diagnostic • IO biomarker
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    MSI-H/dMMR