MeSH Browser

MeSH Supplementary: Turcot syndrome
Unique ID: C536928
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536928
Entry Term(s): Brain Tumor-Polyposis Syndrome 1; CNS tumors with Familial polyposis of the colon; MMR Deficiency; MMRCS1; MMRCS2; MMRCS3; MMRCS4; Mismatch Repair Cancer Syndrome; Mismatch Repair Deficiency; mismatch repair cancer syndrome 1; mismatch repair cancer syndrome 2; mismatch repair cancer syndrome 3; mismatch repair cancer syndrome 4
Heading Mapped to: *Brain Neoplasms; *Neoplastic Syndromes, Hereditary; *Colorectal Neoplasms
Frequency: 344
Note: Constitutional mismatch repair deficiency is a rare hereditary, autosomal recessive childhood cancer predisposition syndrome with four main tumor types: HEMATOLOGIC NEOPLASMS; BRAIN NEOPLASMS and CENTRAL NERVOUS SYSTEM NEOPLASMS; COLORECTAL NEOPLASMS and multiple INTESTINAL POLYPS, and other malignancies including embryonic tumors and RHABDOMYOSARCOMA. Many patients show signs reminiscent of NEUROFIBROMATOSIS TYPE I (OMIM: 162200). 'Turcot syndrome' classically refers to the combination of colorectal polyposis and primary tumors of the central nervous system. Mutations in the MLH1, MSH2, MSH6, and PMS2 genes have been identified. OMIM: 276300
Date of Entry: 2010/08/25
Revision Date: 2021/05/20

Concept UI: M0531389
Terms: Turcot syndrome Preferred Term
Term UI T740900
Date02/24/2009
LexicalTag NON
ThesaurusID; CNS tumors with Familial polyposis of the colon
Term UI T740902
Date02/24/2009
LexicalTag NON
ThesaurusID ORD (2010); Mismatch Repair Cancer Syndrome
Term UI T800887
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Mismatch Repair Deficiency
Term UI T800893
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); MMR Deficiency
Term UI T824908
Date06/25/2012
LexicalTag NON
ThesaurusID OMIM (2013)

Turcot syndrome MeSH Supplementary Concept Data 2024