lynch syndrome Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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)
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Genes

8 genes involed in the disease lynch syndrome from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
EPCAM epithelial cell adhesion molecule
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MSH2 mutS homolog 2
MSH6 mutS homolog 6
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)