Article
A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report.
Diagnostic pathology - 10 Feb 2023
Cui Jiantao, Chen Xiuying, Zhai Qian, Chen Na, Li Xiaodan, Zhang Yuli, Wang Hui, Bian Xin, Gao Na, Chen Deyi, Chen Zhihong, Zhang Shibiao, Chen Yan
Abstract excerpt
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 cancers (ECs) and defined a subgroup of endometrial cancers with ultrahigh somatic mutation frequencies, high tumor infiltrated...
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