RNF43 is frequently mutated in colorectal and endometrial cancers

Nat Genet. 2014 Dec;46(12):1264-6. doi: 10.1038/ng.3127. Epub 2014 Oct 26.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenocarcinoma / genetics*
  • Adenomatous Polyposis Coli Protein / genetics
  • Colorectal Neoplasms / genetics*
  • DNA-Binding Proteins / genetics*
  • Endometrial Neoplasms / genetics*
  • Exome
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Microsatellite Repeats / genetics
  • Mutation*
  • Oncogene Proteins / genetics*
  • Phenotype
  • Sequence Analysis, DNA
  • Signal Transduction
  • Ubiquitin-Protein Ligases


  • APC protein, human
  • Adenomatous Polyposis Coli Protein
  • DNA-Binding Proteins
  • Oncogene Proteins
  • RNF43 protein, human
  • Ubiquitin-Protein Ligases