A genomic dataset from a retrospective study of 39 Cancer of Unknown Primary (CUP) patients. It contains results from applying a 92-gene targeted sequencing panel to circulating cell-free DNA, identifying somatic, germline, and CHIP-related variants. The dataset was authored by Roberta Roncarati and last updated in June 2026.
Use Cases
- Identify potential therapeutic targets based on actionable mutations in genes like NF1, KRAS, ARID1A, and PIK3CA.
- Study clonal hematopoiesis of indeterminate potential (CHIP) in cancer patients using paired ccfDNA and germline DNA analysis.
- Analyze pathway dysregulation in CUP, focusing on cell-cycle regulation, receptor tyrosine kinase signaling, and NOTCH pathways.
- Investigate the co-occurrence of germline and somatic variants, as observed in the NTRK1 gene.
Strengths
- Dataset is derived from a 92-gene targeted sequencing panel applied to samples from 39 patients.
- Analysis distinguishes between somatic, germline, and CHIP-associated variants using paired ccfDNA and germline DNA.
- Identifies 44 clinically relevant variants and actionable mutations in 13 genes, supporting clinical annotation.
Limitations
- Row count is unknown, which may limit suitability assessment.
- Column-level documentation is absent; field semantics must be inferred after download.
- The dataset is small in size (22.8 KB), indicating limited scope.
Provenance
- Source
- figshare
- Collection Method
- Retrospective observational study applying targeted sequencing to liquid biopsy samples.
- Freshness
- Last updated 2026-06-03 04:52:48; freshness should be verified.