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    Association details:
    Biomarker:POLE mutation
    Cancer:Endometrial Cancer
    Drug:Keytruda (pembrolizumab) (PD1 inhibitor)
    Direction:Sensitive
    Evidence:
    Evidence Level:
    Sensitive: C2 – Inclusion Criteria
    Source:
    clinicaltrials.gov
    Title:

    Pembrolizumab in Ultramutated and Hypermutated Endometrial Cancer

    Excerpt:
    ...Tumors must demonstrate ultramutation (POLE/POLD1-mutation) and/or hyper-mutation (due to MMR gene defect) in a representative primary or metastatic tumor site by next generation sequencing (NGS) and Comprehensive Genomic Profiling (CGP) testing, and/or standard PCR-based DNA microsatellite instability (MSI) and immunohistochemistry (IHC)....
    Trial ID:
    NCT02899793
    Evidence Level:
    Sensitive: C4 – Case Studies
    Source:
    J Clin Invest
    Title:

    Immune activation and response to pembrolizumab in POLE-mutant endometrial cancer

    Excerpt:
    Analysis of The Cancer Genome Atlas (TCGA) revealed that the presence of POLE mutation associates with high mutational burden and elevated expression of several immune checkpoint genes. Together, these data suggest that cancers harboring POLE mutations are good candidates for immune checkpoint inhibitor therapy.
    DOI:
    10.1172/JCI84940