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Turcot syndrome MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Brain Neoplasms
*Neoplastic Syndromes, Hereditary
*Colorectal Neoplasms
Frequency
274
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
Turcot syndrome Preferred
mismatch repair cancer syndrome 1 Narrower
mismatch repair cancer syndrome 4 Narrower
mismatch repair cancer syndrome 2 Narrower
mismatch repair cancer syndrome 3 Narrower
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