title: Mutational analysis of WTX gene in Wnt/ beta-catenin pathway in gastric, colorectal, and hepatocellular carcinomas.
abstract: A recent study of Wilms' tumors discovered a new X chromosome gene, Wilms' tumor gene on the X chromosome (WTX), which was found to harbor small deletions and point mutations. WTX protein negatively regulates Wnt/ beta-catenin signaling, and is considered a tumor-suppressor gene. One of the questions about the WTX gene is whether the genetic alterations of the WTX gene are specific to only Wilms' tumors. To see whether somatic point mutations of WTX occur in other malignancies, we analyzed the WTX gene for the detection of mutations in 141 cancer tissues by a single-strand conformation polymorphism assay. The cancer tissues consisted of 47 gastric adenocarcinomas, 47 colorectal adenocarcinomas, and 47 hepatocellular carcinomas. Overall, we detected one WTX mutation in the colorectal carcinomas (1/47; 2.1%), but there was no WTX mutation in other cancers analyzed. The detected mutation was a missense mutation (c. 1117G > A (p.Ala373Thr)). Although the WTX mutation is common in Wilms' tumors, our data indicate that it is rare in colorectal, gastric, and hepatocellular carcinomas. The data also suggest that deregulation of Wnt/ beta-catenin signaling by WTX gene mutation may be a rare event in the pathogenesis of colorectal, gastric, and hepatocellular carcinomas.
authors: Department of Pathology, College of Medicine, The Catholic University of Korea, 505 Banpo-dong, Socho-gu, Seoul 137-701, Korea.
authors: Nam J
authors: NJ
authors: Yoo
authors: S
authors: S
authors: Kim
authors: Sug H
authors: SH
authors: Lee
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000230:Adenocarcinoma / Q000235:genetics* / Q000378:metabolism; D006528:Carcinoma, Hepatocellular / Q000235:genetics* / Q000378:metabolism; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D015398:Signal Transduction / Q000235:genetics; D013274:Stomach Neoplasms / Q000235:genetics* / Q000378:metabolism; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D051153:Wnt Proteins / Q000378:metabolism*; D051176:beta Catenin / Q000378:metabolism*
chemical_list: C517118:AMER1 protein, human; D048868:Adaptor Proteins, Signal Transducing; C495270:CTNNB1 protein, human; D025521:Tumor Suppressor Proteins; D051153:Wnt Proteins; D051176:beta Catenin