Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours

The HUGO Journal

Official Journal of the Human Genome Organisation

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)	12^a	Scorpion-ARMS	Plasma	N/A	N/A	33
		Rosell et al. (2009)	164^a	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
Breast cancer	PIK3CA	Angenendt et al. (2010)	50	BEAMing	Plasma	30%	30%	100
Cutaneous melanoma	BRAF	Board et al. (2009)	96	ARMS	Serum	26.6%	47%	76
Cutaneous melanoma	BRAF	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