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    GENE:

    MSH2 (MutS Homolog 2)

    i
    Other names: MSH2, MutS Homolog 2, HMSH2, MutS (E. Coli) Homolog 2, MutS Homolog 2, Nonpolyposis Type 1, DNA Mismatch Repair Protein Msh2, MutS Protein Homolog 2, HNPCC1, HNPCC, LCFS2, COCA1, FCC1
    7d
    Transvaginal Ultrasound and Photoacoustic Imaging of Ovary (clinicaltrials.gov)
    P=N/A, N=310, Recruiting, Washington University School of Medicine | Trial completion date: Jan 2028 --> Jan 2027 | Trial primary completion date: Jan 2028 --> Jan 2027
    Trial completion date • Trial primary completion date
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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) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • EPCAM (Epithelial cell adhesion molecule) • BARD1 (BRCA1 Associated RING Domain 1)
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    BARD1 mutation
    7d
    First Middle East and North Africa report of an EPCAM-MSH2 deletion in two Iranian Lynch syndrome families: a case report. (PubMed, Cancer Genet)
    Cascade testing achieved remarkable uptake, with >20 relatives tested in family A-over tenfold higher than typical reports-facilitated by direct clinician contact and streamlined logistics such as convenient blood collection. This is the first documented EPCAM-MSH2 deletion reported from the Middle East and North Africa region (MENA).
    Journal
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    MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    8d
    Diagnostic Accuracy of Immunohistochemistry Testing on Sebaceous Gland Neoplasms for Muir-Torre Syndrome: A Meta-Analysis. (PubMed, J Cutan Pathol)
    IHC testing can discriminate between sporadic and MTS-associated sebaceous neoplasms, but diagnostic utility is limited by low specificity. Most MMR-deficient cases are not due to MTS.
    Retrospective data • Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    8d
    Prevalence of germline MSH3 polymorphisms in ulcerative colitis and early-onset colorectal cancer patients that potentiates inflammation-to-cancer transformation. (PubMed, Hum Mol Genet)
    Using cell models we demonstrate IL-6-induced binding of wild type and Δ27bpMSH3 to the NFκB activating complex NEMO/IKKγ which stabilizes MSH3 after disengaging from its nuclear partner MSH2, linking inflammation with DNA repair protein stability. Additional NLS modifications using MSH3-FLAG mimics cytosolic Δ27bpMSH3 retention to cause loss-of-function after inflammation.
    Journal
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    IL6 (Interleukin 6) • MSH2 (MutS Homolog 2) • MSH3 (MutS Homolog 3)
    9d
    Bridging Andrology and Oncology: Prognostic Indicators of Cancer Among Infertile Men. (PubMed, Curr Issues Mol Biol)
    The possibility of incorporating these indicators into risk stratification models for precision medicine and early cancer surveillance is highlighted. For this high-risk group, bridging the domains of andrology and oncology may allow for better counseling, earlier detection, and focused therapies.
    Review • Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2)
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    TP53 mutation
    9d
    Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region. (PubMed, Cells)
    Therapeutic annotation using OncoKB identified 223 actionable or likely oncogenic variants, highlighting potential targets for precision oncology. This study provides a comprehensive characterization of the breast cancer mutational landscape in MENA patients and offers a valuable resource for advancing genomic and therapeutic research in this demographic.
    Journal • BRCA Biomarker
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    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • ATM (ATM serine/threonine kinase) • SF3B1 (Splicing Factor 3b Subunit 1) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • ERCC2 (Excision repair cross-complementation group 2) • KMT2C (Lysine Methyltransferase 2C) • RAD51C (RAD51 paralog C) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) • GATA3 (GATA binding protein 3)
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    TP53 mutation • PIK3CA mutation • ATM mutation • PTEN mutation
    11d
    Mismatch Repair System Gene Expression in FFPE Samples from Breast Cancer Patients. (PubMed, Med Sci (Basel))
    No associations were found between hMSH2 and hMSH6 expression and tumor staging, HER2, ER, PR, or Ki-67 expression. Our results suggest that the expression of the proposed markers is decreased in breast tumorigenesis.
    Journal • Mismatch repair
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    HER-2 (Human epidermal growth factor receptor 2) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    HER-2 expression
    11d
    Quantifying replication stress in cancer without proliferation confounding. (PubMed, Cell Stress)
    Specifically, we observed that MSH2 and MSH6 - core components of mismatch repair - are associated with elevated RS and may indicate a shift toward NHEJ-mediated repair under stress conditions. Our study provides a refined approach to quantify RS and sheds light on its broader impact on DNA repair network dynamics.
    Journal
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    MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    11d
    Pathological diagnosis experience and literature review of four cases suspected Lynch-like syndrome. (PubMed, Front Oncol)
    Most cases lack germline MMR mutations in normal tissues but harbor somatic MMR mutations in tumor tissues. Germline or somatic mutations in other genes related to MMR function may be observed in some cases.
    Journal • MSi-H Biomarker
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    BRAF (B-raf proto-oncogene) • 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 • BRAF mutation • BRAF wild-type
    11d
    MSH2 in colorectal cancer: a comprehensive review of molecular mechanisms, clinical prognosis, and a precision oncology framework. (PubMed, Crit Rev Oncol Hematol)
    This framework represents a practical tool for translating genomic insights into precision oncology practice. These findings, including the characterization of MSH2 mutation types, their biological impacts, and clinical applications, underscore the promise of leveraging genomic insights to enhance precision oncology approaches and improve clinical outcomes for CRC patients.
    Review • Journal • IO biomarker
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    MSH2 (MutS Homolog 2)
    13d
    Deep learning-based mismatch repair prediction using colorectal cancer macroscopic images: a diagnostic study. (PubMed, J Gastroenterol)
    The new deep-learning model accurately identified MMR status using macroscopic specimen images and showed potential for MMR screening among CRC patients, particularly in a rapid-response scenario.
    Journal • Mismatch repair
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    16d
    Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan. (PubMed, Commun Med (Lond))
    This study provides critical insights for clinical guidelines on the associations between cancer types, age at diagnosis, and carrier frequency.
    Journal • Pan tumor
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)