V411L : Tumor susceptibility and immune response in mouse models

The POLE^V411L variant causes cancers with high mutational burden and improved response to immune checkpoint blockade in mouse models.

References

Ma, X. et al. Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity. Nat. Genet. 54, 996-1012 (2022). https://pubmed.ncbi.nlm.nih.gov/35817971/
Sawant, A., et al. Immune checkpoint blockade delays cancer development and extends survival in DNA polymerase mutator syndromes. Cancer Res 85, 1130-1144 (2025). https://pubmed.ncbi.nlm.nih.gov/39786467/