Mismatch repair cancer syndrome

Mismatch repair cancer syndrome
Classification and external resources
Specialty
OMIM	276300
DiseasesDB	29793
eMedicine	ped/828
Patient UK	Mismatch repair cancer syndrome

Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch repair 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, MSH2, MSH6 or PMS2. Although these are the same genes mutated in the condition known as Lynch syndrome or hereditary nonpolyposis colorectal cancer, 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 tumors like medulloblastoma, malignant glioma. It was first reported by Canadian surgeon Jacques Turcot (1914- ) et al. in 1959 and hence carries the first author's name.

See also

• Gardner syndrome is an association of hereditary intestinal polyps, osteomas (typically of the skull), papillary thyroid cancer, and desmoid tumors.

External links

• synd/3528 at Who Named It?
• Turcot syndrome; CNS tumors with Familial polyposis of the colon at NIH's Office of Rare Diseases
• Cancer.Net: Turcot Syndrome