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

RNF43 is frequently mutated in colorectal and endometrial cancers

Marios Giannakis  1 , Eran Hodis  2 , Xinmeng Jasmine Mu  3 , Mai Yamauchi  4 , Joseph Rosenbluh  3 , Kristian Cibulskis  5 , Gordon Saksena  5 , Michael S Lawrence  5 , Zhi Rong Qian  4 , Reiko Nishihara  6 , Eliezer M Van Allen  1 , William C Hahn  1 , Stacey B Gabriel  5 , Eric S Lander  7 , Gad Getz  8 , Shuji Ogino  9 , Charles S Fuchs  10 , Levi A Garraway  1
Affiliations

RNF43 is frequently mutated in colorectal and endometrial cancers

Marios Giannakis et al. Nat Genet. 2014 Dec.

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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Figures

Figure 1
Figure 1
RNF43 mutations in colorectal and endometrial cancers. (a–c) Distribution and type of RNF43 mutations in colorectal cancer, NHS and HPFS set (a); colorectal cancer, TCGA set (b); and endometrial cancer, TCGA set (c). The domains of RNF43 are depicted schematically at the bottom.
Figure 2
Figure 2
Association of RNF43 mutations with MSI status and APC mutations. (a) Matrix displaying MSI status, APC truncating events and RNF43 truncating events for each of 407 colorectal tumor samples (NHS set and HPFS set and TCGA set). Each vertical line represents one colorectal cancer. Top, MSI status. MSI-H, microsatellite instability high; MSI-L, microsatellite instability low; MSI-NA, MSI status not available; MSS, microsatellite stable. Middle, a filled box shows that an APC truncating mutation is present in that tumor. Bottom, a filled box shows that an RNF43 truncating mutation is present in that tumor. (b) Matrix displaying MSI status and RNF43 truncation status for each of 248 endometrial tumor samples (TCGA set). Each vertical line represents one endometrial cancer. Top, MSI status. Bottom, a filled box shows that an RNF43 truncating mutation is present in that tumor. Mutations in APC and RNF43 are colored by type. In cases where multiple mutations were present in the same cancer sample, the presence of a frameshift mutation took priority in determining the displayed color, followed by the presence of a nonsense mutation.
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