Cancer of Unknown Primary Genomic Profiling from Cell-Free DNA

Genomic profiling data from a retrospective observational study of 39 Cancer of Unknown Primary (CUP) patients. The dataset likely contains results from applying a 92-gene targeted sequencing panel to circulating cell-free DNA, including somatic, germline, and CHIP-related variant classifications. It was authored by Roberta Roncarati and last updated on figshare in June 2026.

Use Cases

• Identify recurrent somatic mutations in CUP based on the 78 genes reported with variants.
• Assess the actionability of detected variants for molecularly guided therapies based on the 13 actionable genes mentioned.
• Study clonal hematopoiesis of indeterminate potential (CHIP) in cancer patients based on the CHIP-associated variants detected in 17 patients.
• Analyze co-occurrence of germline and somatic variants based on the reported cases of pathogenic germline variants.

Strengths

• Data is derived from a specific 92-gene CUP-targeted sequencing panel.
• Analysis includes paired germline DNA for accurate variant classification.
• Results identify 44 clinically relevant variants (Tier I-III) and actionable mutations in 13 genes.

Limitations

• Dataset is small, containing data from only 39 patients.
• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.

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.