| AMS | Amsterdam |
| CRC | colorectal cancer |
| HGMD | Human Gene Mutation Database |
| HGVS | Human Genome Variation Society |
| InSIGHT | International Society of Gastrointestinal Hereditary Tumors |
| LS | Lynch syndrome |
| LOVD | Leiden Open Variation Database |
| MLPA | Multiplex ligation dependent-probes amplification |
| MMR | mismatch-repair gene |
| MSI | microsatellite instability |
| NGS | Next generation sequencing |
| Path_MMR | Pathogenic (disease-causing) variant of an MMR gene. |
| path_MLH1 | Pathogenic (disease-causing) variant of the MLH1 gene |
| path_MSH2 | Pathogenic (disease-causing) variant of the MSH2 gene |
| path_MSH6 | Pathogenic (disease-causing) variant of the MSH6 gene |
| path_PMS2 | Pathogenic (disease-causing) variant of the PMS2 gene |
| path_EPCAM | Pathogenic (disease-causing) variant of the EPCAM gene |
| UMD | Universal Mutation Database |