The UPF1 RNA surveillance gene is commonly mutated in pancreatic adenosquamous carcinoma.
basic_science · Level V
Where this comes from
- Record sourced from PubMed, PMID 24859531.
- Also identified by DOI 10.1038/nm.3548 and PMC identifier 4048332.
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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.
Medical subject headings
- Alternative Splicing
- Carcinoma, Adenosquamous
- Nonsense Mediated mRNA Decay
- Pancreatic Neoplasms
- Trans-Activators