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This summary evaluates the association between ZC3H7A and pancreatic ductal adenocarcinoma. In a recent study, exome sequencing and digital PCR analyses of a metastatic pancreatic ductal adenocarcinoma tumor revealed 12 candidate genes with higher allele frequencies, including ZC3H7A (PMID:22797009). Although the evidence stems from a single case analysis without familial segregation, the study identified somatic mutations in the tumor sample that suggest a contributory role during metastasis. The genetic findings are based on candidate somatic events detected exclusively in the tumor tissue, where no germline inheritance pattern was observed. As such, the mode of alteration is best described as somatic. There is no additional case-level segregation data available since the analysis was limited to the tumor sample of one patient (PMID:22797009).
Functional assays further support the role of ZC3H7A in pancreatic tumor progression. In vitro experiments demonstrated that altered expression of candidate genes, including ZC3H7A, had significant effects on migration, proliferation, and colony formation in pancreatic cancer cell lines (PMID:22797009). Although no specific variant with a complete HGVS string for ZC3H7A was provided in the study, the functional impact in the context of metastasis underscores the gene’s potential role in disease progression. No conflicting evidence has been reported at this time. Taken together, while the genetic evidence supporting ZC3H7A’s involvement in pancreatic ductal adenocarcinoma is limited by the scope of a single study, the functional data adds moderate support to its pathogenic role. Key take‑home sentence: Integration of genetic and functional evidence, despite being preliminary, highlights ZC3H7A as a promising candidate for further research and potential inclusion in personalized genomic profiling for pancreatic ductal adenocarcinoma.
Gene–Disease AssociationLimitedDerived from a single study analyzing one metastatic PDAC case using exome sequencing and digital PCR, providing preliminary genetic evidence (PMID:22797009). Genetic EvidenceLimitedThe candidate somatic mutation in ZC3H7A was identified in a metastatic tumor without further replication or segregation data (PMID:22797009). Functional EvidenceModerateFunctional assays in pancreatic cancer cell lines revealed that altered expression of ZC3H7A impacted migration, proliferation, and colony formation, supporting its involvement in tumor progression (PMID:22797009). |