A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report

A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report

Abstract Background Defect in proofreading exonuclease activity of polymerases epsilon and delta (Pols ε and δ) leads to mutagenesis and genomic instability and has been described in several cancer types. Somatic POLE exonuclease domain mutations (EDMs) have been reported in 7–12% endometrial cancer...

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Bibliographic Details
Main Authors: Jiantao Cui, Xiuying Chen, Qian Zhai, Na Chen, Xiaodan Li, Yuli Zhang, Hui Wang, Xin Bian, Na Gao, Deyi Chen, Zhihong Chen, Shibiao Zhang, Yan Chen
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Diagnostic Pathology
Subjects:
Endometrial cancer
POLE EDM
Hypermutated
TMB
Online Access:https://doi.org/10.1186/s13000-023-01287-y

Internet

https://doi.org/10.1186/s13000-023-01287-y

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