Giannakis Marios, Hodis Eran, Jasmine Mu Xinmeng, Yamauchi Mai, Rosenbluh Joseph, Cibulskis Kristian, Saksena Gordon, Lawrence Michael S, Qian Zhi Rong, Nishihara Reiko, Van Allen Eliezer M, Hahn William C, Gabriel Stacey B, Lander Eric S, Getz Gad, Ogino Shuji, Fuchs Charles S, Garraway Levi A
1] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA. [2] Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, USA. [3] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
1] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts, USA. [2] Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA. [3] Harvard-MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA. [4] Biophysics Program, Harvard University, Cambridge, Massachusetts, USA.
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.
我们报告了超过18%的结直肠癌和子宫内膜癌中存在RNF43的体细胞突变。RNF43编码一种负向调节Wnt信号的E3泛素连接酶。RNF43的截短突变在微卫星不稳定肿瘤中更为普遍，并且在结直肠癌中与失活的APC突变相互排斥。这些结果表明，RNF43是结直肠癌和子宫内膜癌中最常发生突变的基因之一。
