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Association details:
Evidence:
Evidence Level:
Sensitive: C2 – Inclusion Criteria
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:
Evidence Level:
Sensitive: C4 – Case Studies
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