Article
High mutational burden in colorectal carcinomas with monoallelic POLE mutations: absence of allelic loss and gene promoter methylation.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Jun 2020
Hühns Maja, Nürnberg Sylvia, Kandashwamy Krishna Kumar, Maletzki Claudia, Bauer Peter, Prall Friedrich
Abstract excerpt
Hypermutator-type colorectal carcinomas are microsatellite-stable and have point mutations of the exonuclease domain of the DNA polymerase ε or δ genes (POLE and POLD1, respectively), and an ultrahigh tumor mutational burden (TMB). These tumors may be associated with enhanced antitumor immunity and preferentially afflict younger patients, but this notion awaits validation by accrual of further cases for detailed...
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