Table 1.
Summary of cfDNA studies that investigated the concordance between mutations detected in cfDNA and matched tumour
| Tumour | Mutation | Study | Number of matched samples | Technique used | Medium | Mutation rate in plasma/serum | Mutation rate in tumour | Concordance between plasma/serum and tumour (%) |
|---|---|---|---|---|---|---|---|---|
| Non-small cell lung cancer | EGFR (Exon 19 deletions and p.L858R) | Kimura et al. (2007) | 42 | Scorpion-ARMS | Serum | 19% | 21.4% | 92.9 |
| Maheswaran et al. (2008) | 12a | Scorpion-ARMS | Plasma | N/A | N/A | 33 | ||
| Rosell et al. (2009) | 164a | PNA mediated PCR | Serum | N/A | N/A | 59 | ||
| KRAS | Wang et al. (2010) | 273 | PCR–RFLP | Plasma | 12.8% | 11% | 76.7 | |
| Pancreatic cancer | KRAS | Castells et al. (1999) | 39 | PCR–RFLP | Plasma | 23% | 72% | 32 |
| Breast cancer | PIK3CA | Board et al. (2010) | 41 | Scorpion-ARMS | Plasma | 19.5% | 24% | 95 |
| Angenendt et al. (2010) | 50 | BEAMing | Plasma | 30% | 30% | 100 | ||
| Cutaneous melanoma | BRAF | Board et al. (2009) | 96 | ARMS | Serum | 26.6% | 47% | 76 |
| Pinzani et al. (2010) | 56 | Allele specific real time PCR | Plasma | 42% | 51% | 80 |
ARMS amplification refractory mutation testing system, EGFR epidermal growth factor receptor, PNA protein nucleic acid, RFLP restriction fragment length polymorphism, BEAMing beads, emulsions, amplification and magnetics, NA not applicable
aAll patients had EGFR mutations in tumour