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

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)...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9912575/
https://www.ncbi.nlm.nih.gov/pubmed/36765365
http://dx.doi.org/10.1186/s13000-023-01287-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9912575/
https://www.ncbi.nlm.nih.gov/pubmed/36765365
http://dx.doi.org/10.1186/s13000-023-01287-y

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