The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma
Nature Medicine2014Vol. 20(6), pp. 596–598
Citations Over TimeTop 10% of 2014 papers
Chen Liu, Rachid Karam, Yingqi Zhou, Fang Su, Yuan Ji, Gang Li, Guo‐Tong Xu, Lixia Lü, Chongren Wang, Meiyi Song, Jingping Zhu, Yiran Wang, Yifan Zhao, Wai Chin Foo, Mingxin Zuo, Mark A. Valasek, Milind Javle, Miles Wilkinson, Yanjun Lu
Abstract
Pancreatic adenosquamous carcinoma (ASC) is an enigmatic and aggressive tumor that has a worse prognosis and higher metastatic potential than its adenocarcinoma counterpart. Here we report that ASC tumors frequently harbor somatically acquired mutations in the UPF1 gene, which encodes the core component of the nonsense-mediated RNA decay (NMD) pathway. These tumor-specific mutations alter UPF1 RNA splicing and perturb NMD, leading to upregulated levels of NMD substrate mRNAs. UPF1 mutations are, to our knowledge, the first known unique molecular signatures of pancreatic ASC.
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