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

doi:10.1038/ng.3127

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 journal › Article › Research › peer-review

370 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1264-1266
Number of pages	3
Journal	Nature Genetics
Volume	46
Issue number	12
DOIs	https://doi.org/10.1038/ng.3127
Publication status	Published - 26 Oct 2014
Externally published	Yes

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/ng.3127

Cite this

Giannakis, M., Hodis, E., Mu, X. J., Yamauchi, M., Rosenbluh, J., Cibulskis, K., Saksena, G., Lawrence, M. S., Qian, Z. R., Nishihara, R., Van Allen, E. M., Hahn, W. C., Gabriel, S. B., Lander, E. S., Getz, G., Ogino, S., Fuchs, C. S., & Garraway, L. A. (2014). RNF43 is frequently mutated in colorectal and endometrial cancers. Nature Genetics, 46(12), 1264-1266. https://doi.org/10.1038/ng.3127

@article{e006292582044dcd81649945c7844d8b,

title = "RNF43 is frequently mutated in colorectal and endometrial cancers",

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.",

keywords = "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",

author = "Marios Giannakis and Eran Hodis and Mu, {Xinmeng Jasmine} and Mai Yamauchi and Joseph Rosenbluh and Kristian Cibulskis and Gordon Saksena and Lawrence, {Michael S} and Qian, {Zhi Rong} and Reiko Nishihara and {Van Allen}, {Eliezer M} and Hahn, {William C.} and Gabriel, {Stacey B} and Lander, {Eric S} and Gad Getz and Shuji Ogino and Fuchs, {Charles S} and Garraway, {Levi A}",

year = "2014",

month = oct,

day = "26",

doi = "10.1038/ng.3127",

language = "English",

volume = "46",

pages = "1264--1266",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "12",

}

Giannakis, M, Hodis, E, Mu, XJ, Yamauchi, M, Rosenbluh, J, Cibulskis, K, Saksena, G, Lawrence, MS, Qian, ZR, Nishihara, R, Van Allen, EM, Hahn, WC, Gabriel, SB, Lander, ES, Getz, G, Ogino, S, Fuchs, CS & Garraway, LA 2014, 'RNF43 is frequently mutated in colorectal and endometrial cancers', Nature Genetics, vol. 46, no. 12, pp. 1264-1266. https://doi.org/10.1038/ng.3127

TY - JOUR

T1 - RNF43 is frequently mutated in colorectal and endometrial cancers

AU - Giannakis, Marios

AU - Hodis, Eran

AU - Mu, Xinmeng Jasmine

AU - Yamauchi, Mai

AU - Rosenbluh, Joseph

AU - Cibulskis, Kristian

AU - Saksena, Gordon

AU - Lawrence, Michael S

AU - Qian, Zhi Rong

AU - Nishihara, Reiko

AU - Van Allen, Eliezer M

AU - Hahn, William C.

AU - Gabriel, Stacey B

AU - Lander, Eric S

AU - Getz, Gad

AU - Ogino, Shuji

AU - Fuchs, Charles S

AU - Garraway, Levi A

PY - 2014/10/26

Y1 - 2014/10/26

N2 - 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.

AB - 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.

KW - RNF43 protein

KW - ubiquitin proten ligase E3

KW - unclassified drug

KW - APC protein

KW - APC protein, human

KW - DNA binding protein

KW - microsatellite DNA

KW - oncoprotein

KW - RNF43 protein,human

KW - article

KW - Colorectal cancer

KW - endometrium cancer

KW - exon

KW - frameshift mutation

KW - gene mutation

KW - human

KW - indel mutation

KW - intron

KW - microsatellite instability

KW - missense mutation

KW - nonsense mutation

KW - priority journal

KW - somatic mutation

KW - adenocarcinoma

KW - Colorectal tumors

KW - DNA sequence

KW - endometrium tumour

KW - Exome

KW - Female

KW - gene expression regulation

KW - Genetics

KW - Mutation

KW - phenotype

KW - Signal transduction

KW - Adenomatous Polyposis Coli Protein

KW - Colorectal neoplasms

KW - DNA-binding proteins

KW - Endometrial Neoplasms

KW - Gene Expression Regulation, Neoplastic

KW - Microsatellite repeats

KW - Oncogene proteins

KW - Phenotype

KW - Sequence analysis, DNA

UR - http://www.scopus.com/inward/record.url?scp=84927577882&partnerID=8YFLogxK

U2 - 10.1038/ng.3127

DO - 10.1038/ng.3127

M3 - Article

C2 - 25344691

AN - SCOPUS:84927577882

SN - 1061-4036

VL - 46

SP - 1264

EP - 1266

JO - Nature Genetics

JF - Nature Genetics

IS - 12

ER -

RNF43 is frequently mutated in colorectal and endometrial cancers

Abstract

Keywords

UN SDGs

Access to Document

Other files and links

Cite this