A novel missense mutation c.1381T>C: p.(S461P) in POLE causes multiple molecular features of endometrial carcinoma in China: a case report
This is the first report of the POLE (c.1381T>C: p.(S461P)) variant in endometrial carcinoma. We analyzed its potential pathogenic mechanism, which may contribute to the complex molecular phenotype of POLEmut + MMRd + p53abn tumors, and expanded the <i>POLE</i> mutation spectrum by adding a new likely pathogenic site.
Authors
- Jinqiang Yan
- Lin Han (ORCID: https://orcid.org/0000-0002-7398-0199)
- Zheng Zheng (ORCID: https://orcid.org/0000-0003-3667-8959)
- Yingxue Li (ORCID: https://orcid.org/0000-0002-1709-810X)
- Li Wang (ORCID: https://orcid.org/0000-0003-2068-7535)
Institutions
- Liaocheng People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2025-09-23
- DOI
- https://doi.org/10.3389/fonc.2025.1652864
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00