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

2022-11-14

Abstract excerpt

<h4>Background: </h4> 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 infil...

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Literature Corpus work
a515232c-be9d-5de9-af59-e00338d56695
DOI
10.21203/rs.3.rs-2244949/v1
Open publication

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A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case reportDOI 10.21203/rs.3.rs-2244949/v1
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