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    BIOMARKER:

    PMS2 mutation

    i
    Other names: PMS2, PMS1 Homolog 2, Mismatch Repair System Component, PMS1 Homolog 2, Mismatch Repair Protein, Mismatch Repair Endonuclease PMS2, DNA Mismatch Repair Protein PMS2, PMS1 Protein Homolog 2, PMSL2, PMS2 Postmeiotic Segregation Increased 2, Postmeiotic Segregation Increased 2 Nirs Variant 6, PMS2 Postmeiotic Segregation Increased 2, HNPCC4, PMS2CL, MLH4
    Entrez ID:
    5395
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    2years
    Lynch syndrome is caused by inherited mutations (pathogenic variants) in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2. It can also be caused by large deletions of the 3’ end of EPCAM which lead to inactivation of MSH2. #ColorectalCancerAwarenessMonth (@HHampel1)
    Mismatch repair
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • EPCAM (Epithelial cell adhesion molecule)
    |
    MSH2 mutation • PMS2 mutation
    almost3years
    Thank you! nice discussion - would like input in an interesting case. Pleomorphic sarcoma, TMB 13, mutation MSH6 G1105fs. Microsatelite stable by NGS and by PCR. IHC = intact MSH6 and MSH2, loss of expression MLH1 and PMS2 🤯 Responding to Pembrolizumab. thoughts? @MPishvaian (@PestanaRC)
    Next-generation sequencing
    |
    MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
    |
    MSH6 mutation • MSH2 mutation • PMS2 mutation
    |
    Keytruda (pembrolizumab)