Mismatch repair cancer syndrome (MMRCS) is a
cancer syndrome associated with biallelic
DNA mismatch repair
DNA mismatch repair (MMR) 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.
Mismatch ...
mutations.
It is also known as Turcot syndrome (after Jacques Turcot, who described the condition in 1959) and by several other names.
In MMRCS,
neoplasia
A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...
typically occurs in both the
gut
Gut or guts may refer to:
Anatomy
* Abdomen or belly, the region of a vertebrate between the chest and pelvis
* Abdominal obesity or "a gut", a large deposit of belly fat
* Gastrointestinal tract or gut, the system of digestive organs
* Ins ...
and the
central nervous system
The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain and spinal cord. The CNS is so named because the brain integrates the received information and coordinates and influences the activity of all p ...
(CNS).
In the
large intestine
The large intestine, also known as the large bowel, is the last part of the gastrointestinal tract and of the digestive system in tetrapods. Water is absorbed here and the remaining waste material is stored in the rectum as feces before being r ...
, multiple colonic polyps develop; in the CNS,
brain tumor
A brain tumor occurs when abnormal cells form within the brain. There are two main types of tumors: malignant tumors and benign (non-cancerous) tumors. These can be further classified as primary tumors, which start within the brain, and secon ...
s.
Genetics
Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to
MLH1
DNA mismatch repair protein Mlh1 or MutL protein homolog 1 is a protein that in humans is encoded by the MLH1 gene located on chromosome 3. It is a