Turcot syndrome [Supplementary Concept]
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 introduced: August 25, 2010
MeSH Unique ID: C536928
Heading Mapped to:
Entry Terms:
- CNS tumors with Familial polyposis of the colon
- Mismatch Repair Cancer Syndrome
- Mismatch Repair Deficiency
- MMR Deficiency
- mismatch repair cancer syndrome 1
- MMRCS1
- Brain Tumor-Polyposis Syndrome 1
- mismatch repair cancer syndrome 2
- MMRCS2
- mismatch repair cancer syndrome 3
- MMRCS3
- mismatch repair cancer syndrome 4
- MMRCS4