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    GENE:

    MSH6 (MutS homolog 6)

    i
    Other names: MSH6, GTBP, MutS homolog 6
    3d
    A Single-center, Phase II Study on Efficacy & Safety of SCRT+CAPOX+Serplulimab+Bevacizumab for MSS Rectal Cancer (clinicaltrials.gov)
    P2, N=30, Recruiting, First Affiliated Hospital of Wenzhou Medical University
    New P2 trial
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    Avastin (bevacizumab) • capecitabine • oxaliplatin • Hetronifly (serplulimab)
    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
    Characterization of a novel MSH2 variant in Lynch syndrome: clinical data and complementary bioinformatics assessment. (PubMed, Einstein (Sao Paulo))
    No evidence of protein-rescuing mechanisms was found, supporting the classification of this variant as likely pathogenic/pathogenic.
    Clinical data • Journal
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    MSH6 (MutS homolog 6) • MSH2 (MutS 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
    8d
    NCI-2017-02296: Testing Olaparib in Patients With Advanced or Metastatic (Cancer That Has Spread) Bladder Cancer and Other Genitourinary Tumors With DNA-Repair Genetic Changes (clinicaltrials.gov)
    P2, N=60, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2025 --> Dec 2026
    Trial completion date • Trial primary completion date • Tumor mutational burden
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ABL1 (ABL proto-oncogene 1) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • STK11 (Serine/threonine kinase 11) • NPM1 (Nucleophosmin 1) • POLE (DNA Polymerase Epsilon) • CCND1 (Cyclin D1) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • ATRX (ATRX Chromatin Remodeler) • CHEK2 (Checkpoint kinase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • POLD1 (DNA Polymerase Delta 1) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • FANCL (FA Complementation Group L) • BRD4 (Bromodomain Containing 4) • DOT1L (DOT1 Like Histone Lysine Methyltransferase) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • IKBKE (Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon) • FANCC (FA Complementation Group C)
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    PALB2 mutation • BRIP1 mutation
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    FoundationOne® CDx • FoundationOne® Liquid CDx
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    Lynparza (olaparib)
    8d
    A predictive model based on BRCA1/2, POLE, TP53, and MSH6 mutations for immunotherapy response in advanced endometrial cancer. (PubMed, Am J Cancer Res)
    Inflammatory and tumor biomarkers, IPS, and specific gene mutations are independently associated with immunotherapy response in advanced endometrial cancer. A combined biomarker model may enhance the prediction of treatment outcomes and guide individualized therapy.
    Journal • BRCA Biomarker • IO biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IL6 (Interleukin 6) • MSH6 (MutS homolog 6) • TNFA (Tumor Necrosis Factor-Alpha) • BRCA (Breast cancer early onset) • MUC16 (Mucin 16, Cell Surface Associated) • CRP (C-reactive protein)
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    TP53 mutation • BRCA mutation
    9d
    Leveraging tumor multigene panel testing to identify germline variants in gynecologic cancers: A retrospective evaluation of an algorithm-based approach. (PubMed, Gynecol Oncol)
    A conservative (specificity-focused) tumor-guided algorithm demonstrated high positive predictive value for identifying germline pathogenic variants and may provide a cost-effective means of prioritizing genetic counselling and germline testing in resource-limited settings.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D)
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    RAD51D mutation
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    TruSight Oncology 500 Assay
    11d
    The Temozolomide Mutational Signature: Mechanisms, Clinical Implications, and Therapeutic Opportunities in Primary Brain Tumor Management. (PubMed, Cells)
    Notably, the real-time detection of evolving mutational signatures via CSF-based liquid biopsies may enable adaptive therapy before radiographic progression. By reframing TMZ as a potent evolutionary agent rather than a conventional chemotherapy, this review synthesizes recent mechanistic insights and translational opportunities to guide a next-generation, evolution-informed treatment paradigm for glioma.
    Review • Journal • Tumor mutational burden • PARP Biomarker
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    TMB (Tumor Mutational Burden) • MSH6 (MutS homolog 6)
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    temozolomide
    12d
    COLONYVAQ™-CRC: COLONYVAQ™, a Quantum-Classical Guided Personalized Neoantigen Vaccine for MSS Stage III Colorectal Cancer (clinicaltrials.gov)
    P1, N=12, Recruiting, Biogenea Pharmaceuticals Ltd.
    New P1 trial • Tumor mutational burden
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    Opdivo (nivolumab) • 5-fluorouracil • oxaliplatin • leucovorin calcium
    13d
    mRCAT-E: Node-Sparing Short-Course Radiation Combined With Capecitabine and PD-1/CTLA-4 for MSS Early Rectal Cancer (clinicaltrials.gov)
    P2, N=52, Recruiting, Sir Run Run Shaw Hospital | Not yet recruiting --> Recruiting
    Enrollment open
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    capecitabine
    13d
    IGNITE-TX Phase III: (Identifying Individuals for Genetic Testing & Treatment) Intervention (clinicaltrials.gov)
    P3, N=2100, Not yet recruiting, M.D. Anderson Cancer Center
    New P3 trial
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)