Inherited KDM6AA649T facilitates tumor-immune escape and exacerbates colorectal signet-ring cell carcinoma outcomes

• Published in: Oncogene Vol. 43; no. 23; pp. 1757 - 1768
• Main Authors: Feng, Maoxiao, Chai, Chengwei, Hao, Xiaodong, Lai, Xiaojiang, Luo, Yuanyuan, Zhang, Hong, Tang, Wenzhu, Gao, Ningxin, Pan, Guihong, Liu, Xiaojie, Wang, Yunshan, Xiong, Wenjing, Wu, Qiang, Wang, Jun
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 07.06.2024; Nature Publishing Group
• Subjects: 13/21; 13/31; 14/1; 38/23; 38/91; 631/250/580; 631/67/327; Abdomen; Apoptosis; Birth defects; Cancer; Cell Biology; Cell growth; Cell proliferation; Children; Colorectal carcinoma; Demethylation; Disease; Hospitals; Human Genetics; Inflammation; Internal Medicine; Leukocyte migration; Lung cancer; Lymphocytes; Lymphocytes T; Macrophages; Malignancy; Medical laboratories; Medical prognosis; Medicine; Medicine & Public Health; Metastases; Metastasis; Mutants; Mutation; Oncology; Ostomy; Pathogenesis; Pediatrics; Proteins; Tumor suppressor genes; Tumors; Womens health

Childhood onset of colorectal signet-ring cell carcinoma (CR-SRCC) is extremely rare and featured as highly malignant with poor prognosis. Here we reported a CR-SRCC case of 11-year-old boy with a novel inherited X-linked KDM6A A694T mutation. The H3K27me3 demethylase KDM6A was frequently mutated in...