Turcot syndrome

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

Also Known As:

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

Neoplasms: 1361496
- Hereditary Neoplastic Syndromes: 115
  - Turcot syndrome: 694
- Neoplasms by Site: 4
  - Digestive System Neoplasms: 251
    - Gastrointestinal Neoplasms: 4515
      - Intestinal Neoplasms: 529
        Colorectal Neoplasms: 76245
        Turcot syndrome: 694
  - Nervous System Neoplasms: 237
    - Central Nervous System Neoplasms: 855
      - Brain Neoplasms: 25758
        Turcot syndrome: 694
Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Brain Neoplasms: 25758
      - Turcot syndrome: 694
- Nervous System Neoplasms: 237
  - Central Nervous System Neoplasms: 855
    - Brain Neoplasms: 25758
      - Turcot syndrome: 694
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Hereditary Neoplastic Syndromes: 115
    - Turcot syndrome: 694
Digestive System Diseases: 1068
- Gastrointestinal Diseases: 6062
  - Gastrointestinal Neoplasms: 4515
    - Intestinal Neoplasms: 529
      - Colorectal Neoplasms: 76245
        Turcot syndrome: 694
  - Intestinal Diseases: 1640
    - Intestinal Neoplasms: 529
      - Colorectal Neoplasms: 76245
        Turcot syndrome: 694
    - Colonic Diseases: 360
      - Colorectal Neoplasms: 76245
        Turcot syndrome: 694
    - Rectal Diseases: 194
      - Colorectal Neoplasms: 76245
        Turcot syndrome: 694
- Digestive System Neoplasms: 251
  - Gastrointestinal Neoplasms: 4515
    - Intestinal Neoplasms: 529
      - Colorectal Neoplasms: 76245
        Turcot syndrome: 694

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