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    BIOMARKER:

    MSH2 negative + MSH6 negative

    i
    Other names: MSH6, GTBP, MutS homolog 6, 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
    Entrez ID:
    2956; 4436
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    2ms
    A new subtype of Lynch syndrome associated with MSH2 c.354T>A (p. Y118*) identified in a Chinese family: case report and literature review. (PubMed, Front Genet)
    This study provides evidence that the MSH2 nonsense mutation c.354T>A is a highly likely pathogenic mutation and is responsible for typical LS-associated endometrial carcinoma. It emphasizes the importance of genetic counseling for proband family members to facilitate early diagnosis of LS-related carcinoma.
    Review • Journal • MSi-H Biomarker
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    MSI (Microsatellite instability) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2)
    |
    MSI-H/dMMR • MSH2 mutation • MSH2 negative + MSH6 negative • MSH6 expression
    over3years
    Clinicopathological features of tumor mutation burden, Epstein-Barr virus infection, microsatellite instability and PD-L1 status in Chinese patients with gastric cancer. (PubMed, Diagn Pathol)
    Using IHC and NGS, MSI status, protein expression, tumor mutation burden (TMB) and genetic alterations were identified in patients with GC, which provides a theoretical basis for the future clinical treatment of GC.
    Clinical • Journal • Tumor Mutational Burden • Microsatellite instability • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • ETV6 (ETS Variant Transcription Factor 6) • MLH1 (MutL homolog 1) • LRP1B (LDL Receptor Related Protein 1B) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • RNF43 (Ring Finger Protein 43) • PMS2 (PMS1 protein homolog 2) • BRCA (Breast cancer early onset) • ZFHX3 (Zinc Finger Homeobox 3)
    |
    PD-L1 expression • TP53 mutation • TMB-H • MSI-H/dMMR • ARID1A mutation • RNF43 mutation • BRCA mutation • ATM expression • MSH2 negative + MSH6 negative • PMS2 negative