Cell-free DNA test (by Köhnke et al via Cancer Discovery)

Bruhm et al. conducted a genome-wide somatic mutation analysis of cancer tissues to identify tumor-specific somatic mutations in cell-free DNA fragments for early cancer detection. The authors analyzed genome sequencing data from 2,511 individuals across 25 cancers in the Pan-Cancer Analysis of Whole Genomes study and developed the GEnome-wide Mutational Incidence for Non-Invasive detection of Cancer (GEMINI) approach. GEMINI was then applied to 489 individuals from four prospective patient cohorts. When combined with DELFI fragmentation analyses and low-dose CT imaging, GEMINI detected >90% of patients with lung cancer, including those with stage I and II disease. The GEMINI scores in patients with liver cancer were also higher than those in patients with cirrhosis. The results suggest that cancer can be detected non-invasively through single-molecule mutation profiles to facilitate cancer screening and monitoring.

Bruhm DC… Velculescu VE. Nat Genet....

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