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    BIOMARKER:

    MSH2 mutation

    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
    Entrez ID:
    4436
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    almost2years
    Agree, in #BladderCancer #patients w/validated #germline #genetictesting pathogenic mutation rate can be as high 26% w/ enrichment for DNA damage repair genes MLH1, MSH2, ATM, BRCA2. @AminNassarMD et al. @GIMJournal #access #precisiontherapy https://t.co/Ey3nco3nAm (@EdEsplin)
    Clinical
    |
    BRCA2 (Breast cancer 2, early onset) • ATM (ATM serine/threonine kinase) • MLH1 (MutL homolog 1) • MSH2 (MutS Homolog 2)
    |
    MSH2 mutation
    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
    over2years
    Results from initial PSA screening round of patients with mutations in mismatch repair genes via IMPACT trial. Increased detection of prostate cancer among MSH2 and MSH2 mutation carriers. https://t.co/07uBCTtQYq (@wandering_gu)
    Clinical • Mismatch repair
    |
    MSH2 (MutS Homolog 2)
    |
    MSH2 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)
    over3years
    M/62y ,PS 0 Partial hepatectomy HPR: Intrahep. Cholangioca pT -8 x 7.5 cm ,all margins-ve , LN -ve ,LVE + ,PNI + NGS - MSH2 mutation(AF -12%) Adjuvant Rx ? @pashtoonkasi @GABOUALFA @agrothey @SirohiBhawna @indranilsays @GIcancerDoc @rcarvalhoonco @CathyEngMD (@oncologician)
    Clinical
    |
    MSH2 (MutS Homolog 2)
    |
    MSH2 mutation
    4years
    2/ So many VUS that may be pathological, with no data. Many with LS respond well to chemo & biologics because of germline mutations. Pretty sure my mom’s 💯 response to stage 3 NSC lung cancer was due to MSH2 mutation. Docs were surprised how well treatment worked. (@Ilovepigenetics)
    MSH2 (MutS Homolog 2)
    |
    MSH2 mutation