生物
泛素连接酶
癌症研究
结直肠癌
Wnt信号通路
突变
内科学
遗传学
肿瘤科
癌症
基因
泛素
医学
作者
Marios Giannakis,Eran Hodis,Xinmeng Jasmine Mu,Mai Yamauchi,Joseph Rosenbluh,Kristian Cibulskis,Gordon Saksena,Michael S. Lawrence,Zhi Rong Qian,Reiko Nishihara,Eliezer M. Van Allen,William C. Hahn,Stacey Gabriel,Eric S. Lander,Gad Getz,Shuji Ogino,Charles S. Fuchs,Levi A. Garraway
出处
期刊:Nature Genetics
[Nature Portfolio]
日期:2014-10-26
卷期号:46 (12): 1264-1266
被引量:446
摘要
We report somatic mutations of RNF43 in over 18% of colorectal adenocarcinomas and endometrial carcinomas. RNF43 encodes an E3 ubiquitin ligase that negatively regulates Wnt signaling. Truncating mutations of RNF43 are more prevalent in microsatellite-unstable tumors and show mutual exclusivity with inactivating APC mutations in colorectal adenocarcinomas. These results indicate that RNF43 is one of the most commonly mutated genes in colorectal and endometrial cancers.
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