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- Title
POLE/POLD1 mutation and tumor immunotherapy.
- Authors
Ma, Xiaoting; Dong, Lin; Liu, Xiu; Ou, Kai; Yang, Lin
- Abstract
POLE and POLD1 encode the catalytic and proofreading subunits of DNA polymerase ε and polymerase δ, and play important roles in DNA replication and proofreading. POLE/POLD1 exonuclease domain mutations lead to loss of proofreading function, which causes the accumulation of mutant genes in cells. POLE/POLD1 mutations are not only closely related to tumor formation, but are also a potential molecular marker for predicting the efficacy of immunotherapy in pan-carcinomatous species. The association of POLE/POLD1 mutation, ultra-high mutation load, and good prognosis have recently become the focus of clinical research. This article reviews the function of POLE/POLD1, its relationship with deficient mismatch repair/high microsatellite instability, and the role of POLE/POLD1 mutation in the occurrence and development of various tumors.
- Subjects
DNA mismatch repair; HEREDITARY nonpolyposis colorectal cancer; DNA replication; GENETIC mutation; DNA polymerases; IMMUNOTHERAPY
- Publication
Journal of Experimental & Clinical Cancer Research (17569966), 2022, Vol 41, Issue 1, p1
- ISSN
1756-9966
- Publication type
Article
- DOI
10.1186/s13046-022-02422-1