Literature DB >> 25344691

RNF43 is frequently mutated in colorectal and endometrial cancers.

Marios Giannakis1, Eran Hodis2, Xinmeng Jasmine Mu3, Mai Yamauchi4, Joseph Rosenbluh3, Kristian Cibulskis5, Gordon Saksena5, Michael S Lawrence5, Zhi Rong Qian4, Reiko Nishihara6, Eliezer M Van Allen1, William C Hahn1, Stacey B Gabriel5, Eric S Lander7, Gad Getz8, Shuji Ogino9, Charles S Fuchs10, Levi A Garraway1.   

Abstract

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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Year:  2014        PMID： 25344691      PMCID： PMC4283570          DOI： 10.1038/ng.3127

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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