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. 2020 Jun 15;9(6):1861. doi: 10.3390/jcm9061861
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