Mismatch repair cancer syndrome (MMRCS) is a condition associated with biallelic DNA mismatch repair

DNA mismatch repair

DNA mismatch repair is a system for recognizing and repairing erroneous insertion, deletion and mis-incorporation of bases that can arise during DNA replication and recombination, as well as repairing some forms of DNA damage....

 mutations. It is also known as Turcot syndrome after Jacques Turcot who described the condition in 1959.

Genetics

Under the name "constitutional mismatch repair-deficiency" (CMMR-D), it has been mapped to MLH1

MLH1

MutL homolog 1, colon cancer, nonpolyposis type 2 , also known as MLH1, is a human gene located on Chromosome 3. It is a gene commonly associated with hereditary nonpolyposis colorectal cancer.It can also be associated with Turcot syndrome....

, MSH2

MSH2

MSH2 is a gene commonly associated with Hereditary nonpolyposis colorectal cancer.-Interactions:MSH2 has been shown to interact with Exonuclease 1, MSH3, MSH6, CHEK2, MAX, Ataxia telangiectasia and Rad3 related and BRCA1.-Further reading:...

, MSH6

MSH6

MSH6 is a gene commonly associated with hereditary nonpolyposis colorectal cancer.-Function:MSH6 contributes to ADP and ATP binding. It also contributes to ATPase activity...

 or PMS2

PMS2

Mismatch repair endonuclease PMS2 is an enzyme that in humans is encoded by the PMS2 gene.-Further reading:-External links:* from the National Institute of Health*...

. Although these are the same genes mutated in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer

Lynch syndrome is an autosomal dominant genetic condition which has a high risk of colon cancer as well as other cancers including endometrium, ovary, stomach, small intestine, hepatobiliary tract, upper urinary tract, brain, and skin...

, the mutations are biallelic in CMMR-D.

The term "childhood cancer syndrome" has also been proposed.

Café-au-lait macules have been observed.

Synonyms

• Brain tumor-polyposis syndrome
• Glioma-polyposis syndrome
• OMIM currently includes "Turcot syndrome" under Mismatch repair cancer syndrome. Turcot syndrome is the association between familial polyposis of the colon and brain tumor
  Brain tumor
  A brain tumor is an intracranial solid neoplasm, a tumor within the brain or the central spinal canal.Brain tumors include all tumors inside the cranium or in the central spinal canal...
  
  s like medulloblastoma
  Medulloblastoma
  Medulloblastoma is a highly malignant primary brain tumor that originates in the cerebellum or posterior fossa.Previously, medulloblastomas were thought to represent a subset of primitive neuroectodermal tumor of the posterior fossa...
  
  , malignant
  Malignant
  Malignancy is the tendency of a medical condition, especially tumors, to become progressively worse and to potentially result in death. Malignancy in cancers is characterized by anaplasia, invasiveness, and metastasis...
  
   glioma
  Glioma
  A glioma is a type of tumor that starts in the brain or spine. It is called a glioma because it arises from glial cells. The most common site of gliomas is the brain.-By type of cell:...
  
  . It was first reported by Canadian
  Canada
  Canada is a North American country consisting of ten provinces and three territories. Located in the northern part of the continent, it extends from the Atlantic Ocean in the east to the Pacific Ocean in the west, and northward into the Arctic Ocean...
  
   surgeon
  Surgeon
  In medicine, a surgeon is a specialist in surgery. Surgery is a broad category of invasive medical treatment that involves the cutting of a body, whether human or animal, for a specific reason such as the removal of diseased tissue or to repair a tear or breakage...
  
   Jacques Turcot (1914- ) et al. in 1959 and hence carries the first author's name.