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In a targeted exome sequencing study of a liver metastatic pancreatic ductal adenocarcinoma (PDAC) case, NOP14 was identified as one of 12 candidate genes exhibiting higher allele frequencies of functional mutations (PMID:22797009). This observation was made through intensive exome capture‐sequencing analysis, which provided an initial signal for its potential involvement in PDAC metastasis.
Follow‑up multi‑patient studies further supported this association. In these investigations, NOP14, together with recognized PDAC drivers such as KRAS and TP53, was found to cluster in a single network with a highly significant p‑value (p = 1 × 10^(-22)) (PMID:22797009). The network analysis underscores the biological relevance of NOP14 in the context of PDAC.
Although a specific HGVS variant for NOP14 was not delineated in the reported data, genetic evidence was derived from somatic mutation analysis using both exome sequencing and digital PCR. These methods confirmed the presence of aberrant alterations in the tumor tissue, which supports the candidacy of NOP14 in PDAC metastasis (PMID:22797009).
Functional experiments demonstrated that the candidate genes, including NOP14, display abnormal expression in PDAC tissues. Moreover, in vitro assays revealed significant impacts on key cellular processes such as migration, proliferation, and colony formation in pancreatic cancer cell lines, providing experimental concordance with the genetic findings (PMID:22797009).
Integration of these genetic and functional data forms a coherent narrative that implicates NOP14 in promoting the metastatic behavior of PDAC. While additional recurrent mutational events and larger cohort studies could further solidify this association, the current evidence supports a moderate level of clinical validity for NOP14 in this context.
Key take‑home: NOP14 emerges as a promising biomarker and potential therapeutic target in metastatic pancreatic ductal adenocarcinoma, offering useful insights for diagnostic decision‑making, commercial applications, and future publications.
Gene–Disease AssociationModerateNOP14 was identified in exome sequencing of a metastatic PDAC case with supporting network analysis and functional studies demonstrating its role in tumor cell behavior (PMID:22797009). Genetic EvidenceLimitedSomatic mutation evidence was obtained from a single PDAC case and validated by digital PCR; however, no distinct recurrent HGVS variant for NOP14 was provided (PMID:22797009). Functional EvidenceModerateFunctional assays in pancreatic cancer cell lines revealed abnormal expression of NOP14 with effects on migration, proliferation, and colony formation, supporting its pathogenic role in PDAC metastasis (PMID:22797009). |