Lynch syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Hereditary nonpolyposis colon cancer (HNPCC) is a cancer-predisposing condition characterized by the development of colorectal cancer (CRC), endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinay tract cancer) that are frequently diagnosed at an early age. Two types of HNPCC have been reported: Muir-Torre syndrome and non-polyposis Turcot syndrome (see these terms). (Orphanet Rare Disease Ontology, Orphanet_144)
External Link http://purl.bioontology.org/ontology/SNOMEDCT/315058005
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Genes

4 genes associated with the Lynch syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)