Zhe Hu, Zimeng Wu, Wei Liu, Yan Ning, Jingbo Liu, Wencheng Ding, Junpeng Fan, Shuyan Cai, Qinlan Li, Wenting Li, Xiaohang Yang, Yingyu Dou, Wei Wang, Wenju Peng, Funian Lu, Xucui Zhuang, Tianyu Qin, Xiaoyan Kang, Chenzhao Feng, Zhiying Xu, Qiaoying Lv, Qian Wang, Chao Wang, Xinyu Wang, Zhiqi Wang, Jianliu Wang, Jie Jiang, Beibei Wang, Gordon B Mills, Ding Ma, Qinglei Gao, Kezhen Li, Gang Chen, Xiaojun Chen, Chaoyang Sun
Endometrial carcinoma remains a public health concern with a growing incidence, particularly in younger women. Preserving fertility is a crucial consideration in the management of early-onset endometrioid endometrial carcinoma (EEEC), particularly in patients under 40 who maintain both reproductive desire and capacity. To illuminate the molecular characteristics of EEEC, we undertook a large-scale multi-omics study of 215 patients with endometrial carcinoma, including 81 with EEEC. We reveal an unexpected association between exposome-related mutational signature and EEEC, characterized by specific CTNNB1 and SIGLEC10 hotspot mutations and disruption of downstream pathways...
April 2, 2024: Nature Genetics