Lynch 2 Syndrome

Preferred Label : Lynch 2 Syndrome;

NCIt synonyms : Hereditary Nonpolyposis Colorectal Cancer Type 2; Familial Non-Polyposis Colon Cancer Type 2; HNPCC2; Hereditary Non-Polyposis Colon Cancer Type 2; Lynch Syndrome II; Lynch Syndrome 2;

NCIt definition : A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage.;

Details

Origin ID

C6726;

UMLS CUI

C1333991;

Currated CISMeF NLP mapping
- Lynch syndrome 2 [OMIM Phenotype]
- hereditary nonpolyposis colorectal cancer type 2 [Disease (Nov.)]
- hereditary nonpolyposis colorectal cancer type 2 [DO Concept]
- lynch syndrome II [MeSH Descriptor]
- lynch syndrome II [MeSH concept]
Disease may have findings
- Lower Gastrointestinal Hemorrhage [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lynch syndrome 2 [OMIM Phenotype]
- hereditary nonpolyposis colorectal cancer type 2 [Disease (Nov.)]
- lynch syndrome II [MeSH concept]
- lynch syndrome II [MeSH Descriptor]
disease_has_associated_disease
- Colorectal Carcinoma [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- Inactivating MLH1 Gene Mutation [NCIt concept]
disease_mapped_to_gene
- MLH1 Gene [NCIt concept]
- MSH6 Gene [NCIt concept]
- PMS1 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]
disease_may_have_associated_disease
- Endometrial Carcinoma [NCIt concept]
- Gastric Intestinal-Type Adenocarcinoma [NCIt concept]
- Ovarian Carcinoma [NCIt concept]
- Renal Pelvis Carcinoma [NCIt concept]
- Small Intestinal Carcinoma [NCIt concept]
- Ureter Carcinoma [NCIt concept]
disease_may_have_molecular_abnormality
- High-Frequency Microsatellite Instability [NCIt concept]
- Inactivating MSH6 Gene Mutation [NCIt concept]
- Inactivating PMS2 Gene Mutation [NCIt concept]
- PMS1 Gene Inactivation [NCIt concept]
pathogenesis_of_disease_involves_gene
- MLH1 Gene [NCIt concept]
- MLH1 wt Allele [NCIt concept]
related_to_genetic_biomarker
- MLH1 Gene [NCIt concept]
- MSH2 Gene [NCIt concept]
- MSH6 Gene [NCIt concept]
- PMS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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