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

• Main Authors: Jiantao Cui (Author), Xiuying Chen (Author), Qian Zhai (Author), Na Chen (Author), Xiaodan Li (Author), Yuli Zhang (Author), Hui Wang (Author), Xin Bian (Author), Na Gao (Author), Deyi Chen (Author), Zhihong Chen (Author), Shibiao Zhang (Author), Yan Chen (Author)
• Format: Book
• Published: BMC, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...