Article
Interpretation of somatic POLE mutations in endometrial carcinoma.
The Journal of pathology - 1 Mar 2020
León-Castillo Alicia, Britton Heidi, McConechy Melissa K, McAlpine Jessica N, Nout Remi, Kommoss Stefan, Brucker Sara Y, Carlson Joseph W, Epstein Elisabeth, Rau Tilman T, Bosse Tjalling, Church David N, Gilks C Blake
Abstract excerpt
Pathogenic somatic missense mutations within the DNA polymerase epsilon (POLE) exonuclease domain define the important subtype of ultramutated tumours ('POLE-ultramutated') within the novel molecular classification of endometrial carcinoma (EC). However, clinical implementation of this classifier requires systematic evaluation of the pathogenicity of POLE mutations. To address this, we examined base changes,...
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