Table 2.
Methodologies for detecting mutations [modified according to Diaz and Bardelli (32)].
| Technique | Sensitivity | Optimal application | Detection of known hot spot/other mutations |
|---|---|---|---|
| Sanger sequencing | >10% | Tumor tissue | Yes/Yes |
| Pyrosequencing | 5–10% | Tumor tissue | Yes/No |
| Next-generation sequencing | 2% | Tumor tissue | Yes/Yes |
| Quantitative PCR | 1% | Tumor tissue | Yes/No |
| ARMS | 0.1% | Tumor tissue, ctDNA | Yes/No |
| BEAMing, Digital PCR | 0.01% | ctDNA, rare variants in tumor tissue | Yes/No |
| TAM-Seq | 0.01% | ctDNA, rare variants in tumor tissue | Yes/Yes |
ARMS, amplification refractory mutation system; ctDNA, circulating tumor DNA; BEAMing, beads, emulsification, amplification and magnetics binding; TAM-seq, tagged-amplicon deed sequencing; PCR, polymerase chain reaction.