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Whole Genome Sequencing Improves Tissue-of-Origin Diagnosis and Treatment Options for Cancer of Unknown Primary

Summary by Nature
Genomics can inform both tissue-of-origin (TOO) and precision treatments for patients with cancer of unknown primary (CUP). Here, we use whole genome and transcriptome sequencing (WGTS) for 72 patients and show diagnostic superiority of WGTS over panel testing (386–523 genes) in 71 paired cases. WGTS detects all reportable DNA features found by panel as well as additional mutations of diagnostic or therapeutic relevance in 76% of cases. Curated …

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scimex.org broke the news in on Tuesday, May 20, 2025.
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