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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
    1d
    Relationship between MLH1, MSH2, MSH6, and PMS2 protein expression status and clinicopathological characteristics in colorectal cancer tissues. (PubMed, Front Med (Lausanne))
    These findings support the value of routine IHC-based MMR testing in CRC patients. However, confirmatory molecular testing (e.g., MSI analysis, BRAF V600E mutation, MLH1 promoter methylation, or germline sequencing) is necessary to differentiate sporadic from Lynch syndrome-associated dMMR cases and to fully guide Lynch syndrome screening and immunotherapy decisions.
    Journal • IO biomarker
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    BRAF (B-raf proto-oncogene) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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    BRAF V600E • MSI-H/dMMR • BRAF V600
    1d
    Cholangiocarcinoma with metachronous urothelial malignancy as a rare manifestation of Lynch syndrome with no gastrointestinal tumour. (PubMed, BMJ Case Rep)
    This enabled the decision to treat with immunotherapy for recurrence and also conduct family screening. In spite of the absence of colonic tumours, Lynch syndrome should be suspected in young patients with multiple tumours, particularly when supported by a relevant family history.
    Journal • IO biomarker
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    1d
    SPARK II: Nodal-Region Sparing Short-Course RT With Chemo-PD-1/Bevacizumab vs. Short-Course RT With Chemotherapy as TNT in pMMR/MSS Locally Advanced Rectal Cancer (clinicaltrials.gov)
    P2, N=76, Recruiting, Dechang Diao
    New P2 trial • pMMR
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    MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    Avastin (bevacizumab)
    4d
    Lynch Syndrome: An Update of Underlying Molecular Mechanisms, Phenotypes and Methods to Classify Variants of Uncertain Significance. (PubMed, Biomedicines)
    Here we review and update on multiple aspects of LS in the context of CRC, including its genetic and molecular basis, current guidelines for molecular screening and variant classification. Furthermore, we review functional assays that have been used to determine the biological impact of genetic variants of uncertain significance (VUS) and discuss future perspectives in the field.
    Review • Journal
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    MSH2 (MutS Homolog 2)
    4d
    Cytological Diagnosis of Primary Cardiac Angiosarcoma Presenting With Multiple Serous Effusions: A Case Report With Cell Block. (PubMed, Diagn Cytopathol)
    The patient received chemotherapy combined with radiotherapy and remained in stable clinical condition. Cytopathology offers a valuable diagnostic approach for patients with primary cardiac tumors in whom histological sampling cannot be obtained, and molecular testing using CB specimens can provide additional insights into the genetic profile of such rare tumors.
    Journal
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    MSH2 (MutS Homolog 2)
    4d
    Case of complete response to immunotherapy in MMR-deficient prostate cancer associated with NK-like and CD4+CD8+ T cells. (PubMed, Cell Rep Med)
    Here, we report a patient with locally advanced Gleason 5 + 5 = 10 prostatic adenocarcinoma harboring MSH2 and MSH6 genomic deletions with ultrahigh TMB (>250 mutations/megabase) in whom pembrolizumab resulted in a striking complete radiographic, pathologic, and molecular response...Similar T cells are also present in diverse cancers and expand exclusively in ICI-responsive patients. These findings inform on the cellular mechanisms by which immunotherapies may mediate profound responses in patients with dMMR solid tumors.
    Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker • dMMR
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • CD4 (CD4 Molecule)
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    TMB-H • MSI-H/dMMR
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    Keytruda (pembrolizumab)
    7d
    mRCAT-III: Node-sparing Short-Course Radiation Combined With CAPOX and Tislelizumab for MSS Rectal Cancer (clinicaltrials.gov)
    P3, N=170, Active, not recruiting, Sir Run Run Shaw Hospital | Recruiting --> Active, not recruiting | Trial completion date: Aug 2026 --> Dec 2028
    Enrollment closed • Trial completion date
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
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    Tevimbra (tislelizumab-jsgr) • capecitabine • oxaliplatin
    8d
    Frequency of germline pathogenic variants in breast cancer predisposing genes in a national cohort of young women with breast cancer. (PubMed, Br J Cancer)
    Overall, 18.6% of women with young breast cancer had PVs in 18 genes tested, including 6.8% in a gene other than BRCA1 or BRCA2. Study results suggest that genetic testing should be offered to all women diagnosed breast cancer at the age of 40 or younger.
    Journal • BRCA Biomarker
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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) • ATM (ATM serine/threonine kinase) • STK11 (Serine/threonine kinase 11) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 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)
    8d
    SMT-SL: Determining the Prevalence of Muir-Torre Syndrome in Patients With Lynch Syndrome (clinicaltrials.gov)
    P=N/A, N=150, Recruiting, Centre Hospitalier Universitaire de Nīmes | Not yet recruiting --> Recruiting | Initiation date: Dec 2025 --> Mar 2026
    Enrollment open • Trial initiation date
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    9d
    A Rare Case of Seminoma in an Elderly Patient With Suspected Lynch Syndrome. (PubMed, Clin Case Rep)
    These findings raise suspicion for Lynch syndrome. This case is interesting because seminoma and colorectal cancer were both identified in a patient with features suggestive of a hereditary cancer syndrome.
    Journal
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    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    12d
    Lynch Syndrome and Ethnicity: Disparities in Prevalence, Affected Genes, Cancer Spectrum and Screening. (PubMed, Int J Cancer)
    In contrast, studies from other regions primarily included selected high-risk patients. In conclusion, the geographic and ethnic variations underscore the need for population-specific data and tailored screening strategies, with individualized genetic analysis and surveillance protocols.
    Review • Journal
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    MSH2 (MutS Homolog 2)
    12d
    Hereditary Cancer Genetic Testing for All? A Retrospective Analysis on Genetic Mutations Found in Individuals Not Meeting NCCN® Guidelines. (PubMed, Eur J Breast Health)
    These findings support the potential value of expanded or universal genetic testing strategies, particularly in populations with limited family history or those outside current clinical criteria.
    Retrospective data • Journal • BRCA Biomarker
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • BAP1 (BRCA1 Associated Protein 1) • PALB2 (Partner and localizer of BRCA2) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • APC (APC Regulator Of WNT Signaling Pathway) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MBD4 (Methyl-CpG Binding Domain 4, DNA Glycosylase) • MSH3 (MutS Homolog 3) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • FLCN (Folliculin) • POT1 (Protection of telomeres 1) • MITF (Melanocyte Inducing Transcription Factor) • SDHD (Succinate Dehydrogenase Complex Subunit D) • HOXB13 (Homeobox B13) • LZTR1 (Leucine Zipper Like Transcription Regulator 1) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
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    ATM mutation • CHEK2 mutation • BRIP1 mutation • BARD1 mutation
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