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    GENE:

    MSH6 (MutS homolog 6)

    i
    Other names: MSH6, GTBP, MutS homolog 6
    1d
    Mismatch Repair Deficiency in Gliomas: A Rare Insight into Microsatellite Instability and Its Diagnostic Implications. (PubMed, Asian J Neurosurg)
    While not significantly associated with tumor grade or patient demographics, MMRD may have clinical relevance in specific subgroups. NGS findings highlight the potential utility of integrating molecular diagnostics for identifying MSI and guiding immunotherapy decisions.
    Journal • Mismatch repair • Microsatellite instability • MSi-H Biomarker • 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)
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    MSI-H/dMMR
    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
    8d
    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)
    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
    Precision genomic profiling in Gaucher disease: insights from atypical presentations. (PubMed, Front Genet)
    This study contributes to advancing precision medicine strategies that aim to optimize patient outcomes. Future research into genetic and epigenetic modifiers of GD will further refine this framework and enhance individualized therapeutic approaches.
    Journal
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    MSH6 (MutS homolog 6)
    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
    MSH6 gene methylation on clinical pathology and diagnosis in retinoblastoma: a bioinformatics analysis. (PubMed, Int J Ophthalmol)
    The methylation level of the MSH6 gene may be a key factor in RB pathogenesis. The methylation status of the MSH6 gene is closely associated with clinicopathological features and shows diagnostic potential.
    Journal
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    MSH6 (MutS homolog 6)
    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
    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)
    16d
    Contribution of MLH1, MSH2, and MSH6 large genomic rearrangements to Pakistani colorectal cancer patients. (PubMed, Hered Cancer Clin Pract)
    Our findings demonstrate that MSH2 LGRs occur at a notable frequency among Pakistani CRC patients, with a recurrent 5' upstream deletion representing a potential Punjabi founder variant. Inclusion of this deletion into targeted genetic testing panels may enhance diagnostic yield and improve risk stratification for CRC in Pakistan.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • EPCAM (Epithelial cell adhesion molecule)