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    BIOMARKER:

    MLH1 V384D

    i
    Other names: MLH1, COCA2, FCC2, HNPCC, HNPCC2, MutL homolog 1
    Entrez ID:
    4292
    Related biomarkers:
    Mutation
    CNA
    Others
    over2years
    Isolated MLH1 Loss by Immunohistochemistry Because of Benign Germline MLH1 Polymorphisms. (PubMed, JCO Precis Oncol)
    This study confirms that rare germline polymorphisms can result in incorrect IHC results, potentially affecting selection of optimal therapy and the decision to pursue germline testing. This case further highlights the need for expert molecular pathologic review and communication between clinical and molecular oncology teams.
    Retrospective data • Journal • Tumor Mutational Burden • IO biomarker
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • MLH1 (MutL homolog 1)
    |
    TMB-L • MLH1 V384D