Table 1.
Main characteristics of the included studies
| Study | Country | Population | Type of test |
|---|---|---|---|
| Alberts et al. [36] | USA | CRC patients with stage II, T3, MMR-P | Oncotype DX (12-gene assay) |
| Barone et al. [34] | IT | High-risk non-mCRC patients | KRAS mutation testing |
| Barzi et al. [17] | USA | Healthy individuals | IHC, Amsterdam criteria, MMR, PREMM, germline, BRAF, MSI, RBG |
| Behl et al. [33] | USA | Patients with mCRC | KRAS and BRAF mutation testing |
| Blank et al. [31] | CH | Patients with mCRC who are chemorefractory | KRAS and BRAF mutation testing |
| Dinh et al. [27] | USA | Population aged 20 years or over | Genetic sequencing and rearrangement; single-site testing; IHC; MSI |
| Gallego et al. [18] | USA | CRC patients with genetic mutations | NGS; IHC; BRAF V600E |
| Gausachs et al. [19] | NR (Probably ES) | CRC patients with genetic mutations | BRAF V600E, MLH1 promoter hypermethylation |
| Gould-Suarez et al. [20] | USA | CRC patients | RBG, BRAF targeted mutation analysis, IHC; MSI, MMR gene sequencing |
| Gudgeon et al. [21] | USA | CRC patients | IHC staining for the 4 MMR proteins, MSI, BRAF mutation, MMR gene sequencing/rearrangement analyses (Seq-Rearr), and methylation of the MLH1 promoter. (tumor testing and genetic testing) |
| Ladabaum et al. [28] | USA | CRC patients and their relatives | Amsterdam, IHC, BRAF, MSI, MMR, PREMM, RBG |
| Leenen et al. [22] | DE | CRC patients | MSI, IHC, MMR gene sequencing, RBG |
| Severin et al. [23] | DE | CRC patients and their relatives | IHC, MSI, BRAF V600 mutation, genetic sequencing, MMR, Amsterdam criteria, RBG |
| Sie et al. [24] | DE | CRC patients and their relatives | IHC, MSI, MLH1, germline |
| Snowsill et al. [26] | UK, Wal | CRC patients aged under 50 years and their FDRs | MSI, IHC, BRAF V600E, Amsterdam criteria |
| Snowsill et al. [25] | UK | CRC patients aged under 50 years | IHC, MSI, BRAF |
| Vijayaraghavan et al. [32] | USA, DE | Patients with mCRC in 2nd-line treatment | KRAS mutation testing |
| Wang et al. [29] | USA | CRC patients (at a mean age of 48 years in the base case) and their relatives (at a mean age of 25 years) | IHC, BRAF, MSI, RBG, Amsterdam criteria, MMRpredict, MMRpro, PREMM, germline |
| Wang et al. [30] | SG | 21-year-old FDRs of mutation-confirmed LS cases | NR |
| Westwood et al. [35] | UK, Wal | Adult mCRC whose metastases are confined to liver and are unresectable | KRAS mutation testing |
USA United States, IT Italy, CH Switzerland, ES Spain, DE Germany, UK United Kingdom, Wal Wales, SG Singapore, CRC Colorectal cancer, mCRC metastatic Colorectal cancer, MMR-P mismatch-repair-proficient, LS Lynch syndrome, FDRs first-degree relatives, NR not reported, NGS next-generation-sequencing, RBG Revised Bethesda Guidelines