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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
    2d
    Mapping of DOG1 expression in colorectal carcinomas. (PubMed, Pathology)
    DOG1-positive CAFs were associated with better overall survival. This study suggests that DOG1 expression is detected in a high proportion of CRC because it is expressed in neoplastic cells of various histological subtypes of CRC that secrete gel-forming mucins, independently of mucinous features or in CAFs of conventional adenocarcinomas.
    Journal • MSi-H Biomarker
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    KRAS (KRAS proto-oncogene GTPase) • 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) • KRT7 (Keratin-7) • CDX2 (Caudal Type Homeobox 2) • ANO1 (Anoctamin 1) • KRT20 (Keratin 20) • MUC2 (Mucin 2) • MUC5AC (Mucin 5AC) • MUC6 (Mucin 6)
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    KRAS mutation • MSI-H/dMMR • BRAF mutation • RAS mutation
    9d
    Diagnostic and Treatment Protocols for Peripheral Craniofacial Osteomas. (PubMed, J Craniofac Surg)
    Craniofacial osteomas are benign, slow-growing lesions most frequently found in the frontal bone and are more prevalent among females. The integration of imaging-based diagnosis, tailored surgical techniques, and selective genetic testing allows for accurate evaluation, effective treatment, and favorable postoperative outcomes.
    Journal
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    MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2) • EXT1 (Exostosin Glycosyltransferase 1)
    9d
    Efficacy of Immune Checkpoint Blockade in Advanced Upper Tract Urothelial Cancer With DNA Mismatch Repair Deficiency or Microsatellite Instability. (PubMed, JCO Precis Oncol)
    Our hypothesis-generating findings suggest that dMMR/MSI-H may serve as a biomarker of sensitivity to single-agent ICIs in advanced UTUC. External validation in larger, ideally prospective, studies is needed to confirm the effectiveness and durability of immune checkpoint blockade in this molecular subgroup.
    Retrospective data • Journal • Checkpoint inhibition • 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
    11d
    LEAH: Cohort Evaluation of Body Fluids Early Detection of Cancer in High-risk Individuals (clinicaltrials.gov)
    P=N/A, N=5909, Recruiting, Gustave Roussy, Cancer Campus, Grand Paris | Not yet recruiting --> Recruiting
    Enrollment open
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    TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • RUNX1 (RUNX Family Transcription Factor 1) • BAP1 (BRCA1 Associated Protein 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • CDK4 (Cyclin-dependent kinase 4) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • CDH1 (Cadherin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • POLD1 (DNA Polymerase Delta 1) • RAD51C (RAD51 paralog C) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • RAD51D (RAD51 paralog D) • DDX41 (DEAD-Box Helicase 41) • GATA2 (GATA Binding Protein 2) • DICER1 (Dicer 1 Ribonuclease III) • FLCN (Folliculin) • PRSS1 (Serine Protease 1) • SDHD (Succinate Dehydrogenase Complex Subunit D) • TXNIP (Thioredoxin Interacting Protein) • ANKRD26 (Ankyrin Repeat Domain Containing 26) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • HOXB13 (Homeobox B13)
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    TP53 mutation • PTEN deletion
    13d
    Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation. (PubMed, Cancers (Basel))
    Identifying high-risk individuals is crucial for effective genetic counseling, testing, and potential screening programs to facilitate early diagnosis and improve outcomes. Future research should prioritize large prospective cohorts, screening programs, and the integration of emerging technologies, such as AI-assisted imaging.
    Review • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    BRCA2 mutation • BRCA1 mutation • ATM mutation • STK11 mutation
    14d
    Synchronous triple cancers of synchronous endometrial and ovarian carcinoma complicated by renal cancer: a case report. (PubMed, Front Oncol)
    Notably, the presence of MMRd subtype in such synchronous tumors does not inherently indicate Lynch syndrome. This case underscores the importance of integrating molecular testing and clinical manifestations to accurately diagnose multiple primary malignancies and formulate tailored treatment plans.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    15d
    An intriguing journey into the hereditary syndromes predisposing to endometrial cancer: more than believed. (PubMed, Ther Adv Med Oncol)
    Genetics has been shown to affect several aspects of disease, including carcinogenesis, onset age, clinicopathological features, prognosis, and therapy response. In this review, we will investigate the impact of germline PVs in different genes on genetic susceptibility to the development of inherited EC, discussing the potential cancer risk in mutation carriers as well as prognostic implications and current therapeutic approaches, also evaluating the possibility of carrying out a more extensive routine genetic analysis for EC women, in order to increase the diagnostic power, improve prevention and surveillance strategies in genetically predisposed subjects, and implement tailored therapies.
    Review • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • POLD1 (DNA Polymerase Delta 1) • MUTYH (MutY homolog)
    15d
    SCRT-CAPEOX-Serplulimab for MSS/pMMR Rectal Cancer With Oligometastases (clinicaltrials.gov)
    P2, N=51, Recruiting, First Affiliated Hospital of Zhejiang University | N=102 --> 51
    Enrollment change • Mismatch repair • pMMR
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    capecitabine • oxaliplatin • Hetronifly (serplulimab)
    16d
    Treating microsatellite unstable metastatic parathyroid carcinoma with anti-PD1 therapy. (PubMed, JCEM Case Rep)
    The patient started pembrolizumab immunotherapy, resulting in normalization of laboratory values and partial regression of metastases. This case highlights the diagnostic challenges of PC and underscores the potential role of immunotherapy in selected patients, particularly those with microsatellite instability, given the absence of established systemic treatment options.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    MSI (Microsatellite instability) • MSH2 (MutS Homolog 2)
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    Keytruda (pembrolizumab)
    16d
    Appendiceal Goblet Cell Adenocarcinoma With Mismatch Repair Deficiency and Microsatellite Instability-High Status: A Novel Molecular Signature Guiding Immuno-Oncology Strategy. (PubMed, Pathol Int)
    To our knowledge, this is the first report of appendiceal GCA with dMMR and MSI-high status. Our findings underscore the necessity of incorporating MMR/MSI testing into the diagnostic workup of rare tumors such as GCA, particularly in young patients or those with a family history suggestive of Lynch syndrome, to optimize personalized treatment strategies.
    Journal • Mismatch repair • Microsatellite instability • MSi-H Biomarker • IO biomarker • MSI-H
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    MSI-H/dMMR
    16d
    Deficient Mismatch Repair Subtypes in Vietnamese Colorectal Cancer: Clinicopathologic Associations, Predictive Modeling, and IHC-PCR Concordance. (PubMed, Cancer Manag Res)
    dMMR status, especially dMutL, might be associated with clinicopathologic characteristics, which might support decision-making in clinical practice. These findings require validation in larger cohorts but may inform clinical screening practices in resource-limited settings.
    Journal • Mismatch repair • dMMR
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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
    16d
    S2107: Testing the Addition of Nivolumab to Standard Treatment for Patients With Metastatic or Unresectable Colorectal Cancer That Have a BRAF Mutation (clinicaltrials.gov)
    P2, N=84, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Feb 2026 --> Sep 2026 | Trial primary completion date: Feb 2026 --> Sep 2026
    Trial completion date • Trial primary completion date
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    BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    BRAF V600E • BRAF V600
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    Opdivo (nivolumab) • Erbitux (cetuximab) • Braftovi (encorafenib) • ABP 206 (nivolumab biosimilar)