Ontology highlight
ABSTRACT:
SUBMITTER: Giannakis M
PROVIDER: S-EPMC4283570 | biostudies-literature | 2014 Dec
REPOSITORIES: biostudies-literature
Giannakis Marios M Hodis Eran E Jasmine Mu Xinmeng X Yamauchi Mai M Rosenbluh Joseph J Cibulskis Kristian K Saksena Gordon G Lawrence Michael S MS Qian Zhi Rong ZR Nishihara Reiko R Van Allen Eliezer M EM Hahn William C WC Gabriel Stacey B SB Lander Eric S ES Getz Gad G Ogino Shuji S Fuchs Charles S CS Garraway Levi A LA
Nature genetics 20141026 12
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. ...[more]