Cancer of Unknown Primary Genomic Profiles from Cell-Free DNA in 39 Patients

39 patients with cancer of unknown primary (CUP) were profiled using a 92-gene targeted sequencing panel on circulating cell-free DNA. The dataset, authored by Roberta Roncarati and last updated in 2026, reports somatic mutations in 78 genes, 44 clinically relevant variants, and actionable mutations in 13 genes. It also includes data on likely clonal hematopoiesis of indeterminate potential (CHIP) variants and pathogenic germline variants.

Use Cases

• Identifying recurrent somatic mutations in CUP based on the 92-gene panel results.
• Assessing the potential for molecularly guided therapies based on the 13 genes with actionable mutations.
• Distinguishing somatic, germline, and CHIP-related variants based on paired ccfDNA/gDNA analysis.
• Analyzing pathway involvement in CUP based on mutated genes in cell-cycle regulation, receptor tyrosine kinase signaling, and NOTCH pathways.

Strengths

• Data is derived from a specific 92-gene CUP-targeted sequencing panel applied to 39 patients.
• Includes paired analysis of circulating cell-free DNA and germline DNA for variant classification.
• Reports specific findings: 78 genes with somatic mutations and 44 clinically relevant variants.

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 at 17.4 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 04:52:47; freshness should be verified.