Lynch syndrome

Summary
Synonym
  • COCA 1
  • HNPCC - hereditary nonpolyposis colon cancer
  • Hereditary Defective Mismatch Repair syndrome
  • Hereditary non-polyposis colon cancer
  • Hereditary non-polyposis colon cancer syndrome
  • Hereditary non-polyposis colorectal cancer
  • Hereditary non-polyposis colorectal cancer syndrome
  • Hereditary nonpolyposis colon cancer
  • Hereditary nonpolyposis colon cancer syndrome
  • Hereditary nonpolyposis colorectal cancer syndrome
  • hereditary nonpolyposis colorectal cancer
  • hereditary nonpolyposis colorectal neoplasm
Definition
A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
Super Class
autosomal dominant disease syndrome
External Links
Disease Ontology
DOID:3883
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 11 - 20 of 21 in total
Gene ID Gene Symbol Description Source
3482 IGF2R insulin like growth factor 2 receptor
4360 MRC1 mannose receptor C-type 1
4595 MUTYH mutY DNA glycosylase
4706 NDUFAB1 NADH:ubiquinone oxidoreductase subunit AB1
5290 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
5291 PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5294 PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
5728 PTEN phosphatase and tensin homolog
5743 PTGS2 prostaglandin-endoperoxide synthase 2

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Acknowledgements

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024