RNF43 is frequently mutated in colorectal and endometrial cancers

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 B Gabriel, Eric S Lander, Gad Getz, Shuji Ogino, Charles S Fuchs, Levi A Garraway

Research output: Contribution to journalArticleResearchpeer-review

251 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1264-1266
Number of pages3
JournalNature Genetics
Issue number12
Publication statusPublished - 26 Oct 2014
Externally publishedYes


  • RNF43 protein
  • ubiquitin proten ligase E3
  • unclassified drug
  • APC protein
  • APC protein, human
  • DNA binding protein
  • microsatellite DNA
  • oncoprotein
  • RNF43 protein,human
  • article
  • Colorectal cancer
  • endometrium cancer
  • exon
  • frameshift mutation
  • gene mutation
  • human
  • indel mutation
  • intron
  • microsatellite instability
  • missense mutation
  • nonsense mutation
  • priority journal
  • somatic mutation
  • adenocarcinoma
  • Colorectal tumors
  • DNA sequence
  • endometrium tumour
  • Exome
  • Female
  • gene expression regulation
  • Genetics
  • Mutation
  • phenotype
  • Signal transduction
  • Adenomatous Polyposis Coli Protein
  • Colorectal neoplasms
  • DNA-binding proteins
  • Endometrial Neoplasms
  • Gene Expression Regulation, Neoplastic
  • Microsatellite repeats
  • Oncogene proteins
  • Phenotype
  • Sequence analysis, DNA

Cite this