RNF43 is frequently mutated in colorectal and endometrial cancers

• Main Authors: Giannakis, Marios (Author), Hodis, Eran (Author), Jasmine Mu, Xinmeng (Author), Yamauchi, Mai (Author), Rosenbluh, Joseph (Author), Cibulskis, Kristian (Author), Saksena, Gordon (Author), Lawrence, Michael S (Author), Qian, Zhi Rong (Author), Nishihara, Reiko (Author), Van Allen, Eliezer M (Author), Hahn, William C (Author), Gabriel, Stacey B (Author), Getz, Gad (Author), Ogino, Shuji (Author), Fuchs, Charles S (Author), Garraway, Levi A (Author), Lander, Eric Steven (Contributor)
• Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor)
• Format: Article
• Language: English
• Published: Nature Publishing Group, 2018-06-28T19:52:10Z.
• Subjects: Article
• Online Access: Get fulltext

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.
National Human Genome Research Institute (U.S.) (Grant U54HG003067)